@prefix rdf: . @prefix : . @prefix dc: . @prefix obo: . @prefix owl: . @prefix xml: . @prefix xsd: . @prefix doid: . @prefix rdfs: . @prefix skos: . @prefix terms: . @prefix oboInOwl: . obo:DOID_0001816 obo:IAO_0000115 "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:267"^^xsd:string, "DOID:4508"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9120/3"^^xsd:string, "MESH:D006394"^^xsd:string, "NCI:C3088"^^xsd:string, "NCI:C9275"^^xsd:string, "SNOMEDCT_US_2021_03_01:39000009"^^xsd:string, "UMLS_CUI:C0018923"^^xsd:string, "UMLS_CUI:C0854893"^^xsd:string ; oboInOwl:hasExactSynonym "hemangiosarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0001816"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "angiosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_175 . obo:DOID_0002116 obo:IAO_0000115 "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation."^^xsd:string ; oboInOwl:created_by "laronhughes"^^xsd:string ; oboInOwl:creation_date "2010-06-30T02:44:30Z"^^xsd:string ; oboInOwl:hasDbXref "UMLS_CUI:C0033999"^^xsd:string ; oboInOwl:hasExactSynonym "surfer's eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0002116"^^xsd:string ; a owl:Class ; rdfs:label "pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0014667 obo:IAO_0000115 "A disease that involving errors in metabolic processes of building or degradation of molecules."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.9"^^xsd:string, "ICD9CM:277.9"^^xsd:string, "MESH:D008659"^^xsd:string, "NCI:C3235"^^xsd:string, "SNOMEDCT_US_2021_03_01:75934005"^^xsd:string, "UMLS_CUI:C0025517"^^xsd:string ; oboInOwl:hasExactSynonym "metabolic disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0014667"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "disease of metabolism"^^xsd:string ; rdfs:subClassOf obo:DOID_4 . obo:DOID_0040001 obo:IAO_0000115 "A crustacean allergy that has_allergic_trigger shrimp."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040001"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "shrimp allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060524, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002239 ] . obo:DOID_0040002 obo:IAO_0000115 "A drug allergy that has_allergic_trigger acetylsalicylic acid."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293586001"^^xsd:string, "UMLS_CUI:C0004058"^^xsd:string ; oboInOwl:hasExactSynonym "ASA allergy"@en, "acetylsalicylic acid allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040002"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "aspirin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_15365 ] . obo:DOID_0040003 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger benzylpenicillin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294499007"^^xsd:string, "UMLS_CUI:C0571411"^^xsd:string ; oboInOwl:hasExactSynonym "benzyl penicillin allergy"@en, "penicillin G allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040003"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "benzylpenicillin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_18208 ] . obo:DOID_0040004 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger amoxicillin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294505008"^^xsd:string, "UMLS_CUI:C0571417"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040004"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "amoxicillin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_2676 ] . obo:DOID_0040005 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger ceftriaxone."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294551009"^^xsd:string, "UMLS_CUI:C0571463"^^xsd:string ; oboInOwl:hasExactSynonym "rocephin allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040005"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ceftriaxone allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_29007 ] . obo:DOID_0040006 obo:IAO_0000115 "A drug allergy that has_allergic_trigger carbamazepine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293867002"^^xsd:string, "UMLS_CUI:C0570787"^^xsd:string ; oboInOwl:hasExactSynonym "Tegretol allergy"@en, "carbamazepen allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040006"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carbamazepine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3387 ] . obo:DOID_0040007 obo:IAO_0000115 "A drug allergy that has_allergic_trigger abacavir."^^xsd:string ; oboInOwl:hasExactSynonym "ABC allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040007"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "abacavir allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_421707 ] . obo:DOID_0040008 obo:IAO_0000115 "A drug allergy that has_allergic_trigger isoniazide."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Z88.1"^^xsd:string ; oboInOwl:hasExactSynonym "INH allergy"@en, "isonicotinylhydrazide allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040008"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "isoniazide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_6030 ] . obo:DOID_0040009 obo:IAO_0000115 "A drug allergy that has_allergic_trigger lidocaine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293722000"^^xsd:string, "UMLS_CUI:C0570646"^^xsd:string ; oboInOwl:hasExactSynonym "Lidoderm allergy"@en, "lignocaine allergy"@en, "xylocaine allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040009"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "lidocaine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_6456 ] . obo:DOID_0040010 obo:IAO_0000115 "A drug allergy that has_allergic_trigger mepivacaine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Z88.4"^^xsd:string ; oboInOwl:hasExactSynonym "Carbocaine allergy"@en, "Polocaine allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040010"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "mepivacaine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_6759 ] . obo:DOID_0040011 obo:IAO_0000115 "A drug allergy that has_allergic_trigger phenobarbital."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293865005"^^xsd:string, "UMLS_CUI:C0570785"^^xsd:string ; oboInOwl:hasExactSynonym "Luminal allergy"@en, "phenobarbitol allergy"@en, "phenobarbitone allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040011"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phenobarbital allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8069 ] . obo:DOID_0040012 obo:IAO_0000115 "A drug allergy that has_allergic_trigger phenytoin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293869004"^^xsd:string, "UMLS_CUI:C0570789"^^xsd:string ; oboInOwl:hasExactSynonym "Dilantin allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040012"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phenytoin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8107 ] . obo:DOID_0040013 obo:IAO_0000115 "A drug allergy that has_allergic_trigger ranitidine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293653009"^^xsd:string, "UMLS_CUI:C0570577"^^xsd:string ; oboInOwl:hasExactSynonym "Zantac allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040013"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ranitidine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8776 ] . obo:DOID_0040014 obo:IAO_0000115 "A drug allergy that has_allergic_trigger corticosteroid."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040014"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "corticosteroid allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_50858 ] . obo:DOID_0040015 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sulfonamide."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:91939003"^^xsd:string, "UMLS_CUI:C0038757"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040015"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sulfonamide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_35358 ] . obo:DOID_0040016 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sulfamethoxazole."^^xsd:string ; oboInOwl:hasExactSynonym "SMX allergy"@en, "SMZ allergy"@en, "sulphamethoxazole allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040016"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sulfamethoxazole allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9332 ] . obo:DOID_0040017 obo:IAO_0000115 "A drug allergy that has_allergic_trigger suprofen."^^xsd:string ; oboInOwl:hasExactSynonym "Profenal allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040017"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "suprofen allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9362 ] . obo:DOID_0040018 obo:IAO_0000115 "A drug allergy that has_allergic_trigger thiopental."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293709008"^^xsd:string, "UMLS_CUI:C0570633"^^xsd:string ; oboInOwl:hasExactSynonym "penthiobarbital allergy"@en, "pentothiobarbital allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040018"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "thiopental allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_102166 ] . obo:DOID_0040019 obo:IAO_0000115 "A drug allergy that has_allergic_trigger D-mannitol."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:295019008"^^xsd:string, "UMLS_CUI:C0571922"^^xsd:string ; oboInOwl:hasExactSynonym "mannitol allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040019"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "D-mannitol allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_16899 ] . obo:DOID_0040020 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefotaxime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294545004"^^xsd:string, "UMLS_CUI:C0571457"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040020"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefotaxime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_204928 ] . obo:DOID_0040021 obo:IAO_0000115 "A drug allergy that has_allergic_trigger cephalosporin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294532003"^^xsd:string, "UMLS_CUI:C0571444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040021"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cephalosporin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_23066 ] . obo:DOID_0040022 obo:IAO_0000115 "A drug allergy that has_allergic_trigger amodiaquine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294390007"^^xsd:string, "UMLS_CUI:C0571303"^^xsd:string ; oboInOwl:hasExactSynonym "Camoquin allergy"@en, "Flavoquine allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040022"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "amodiaquine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_2674 ] . obo:DOID_0040023 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefaclor."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294541008"^^xsd:string, "UMLS_CUI:C0571453"^^xsd:string ; oboInOwl:hasExactSynonym "Ceclor allergy"@en, "cephaclor allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040023"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefaclor allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3478 ] . obo:DOID_0040024 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger ceftazidime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294546003"^^xsd:string, "UMLS_CUI:C0571458"^^xsd:string ; oboInOwl:hasExactSynonym "Fortaz allergy"@en, "Tazicef allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040024"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ceftazidime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3508 ] . obo:DOID_0040025 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefuroxime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294542001"^^xsd:string, "UMLS_CUI:C0571454"^^xsd:string ; oboInOwl:hasExactSynonym "Zinacef allergy"@en, "cephuroxime allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040025"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefuroxime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3515 ] . obo:DOID_0040026 obo:IAO_0000115 "A drug allergy that has_allergic_trigger chlorhexidine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294431008"^^xsd:string, "UMLS_CUI:C0571344"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040026"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chlorhexidine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3614 ] . obo:DOID_0040027 obo:IAO_0000115 "A drug allergy that has_allergic_trigger cyclophosphamide."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293748008"^^xsd:string, "UMLS_CUI:C0570670"^^xsd:string ; oboInOwl:hasExactSynonym "cytophosphane allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040027"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cyclophosphamide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_4027 ] . obo:DOID_0040028 obo:IAO_0000115 "A drug allergy that has_allergic_trigger succinylcholine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294224007"^^xsd:string, "UMLS_CUI:C0571140"^^xsd:string ; oboInOwl:hasExactSynonym "dicholine succinate allergy"@en, "succinocholine allergy"@en, "sux allergy"@en, "suxamethonium allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040028"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "succinylcholine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_45652 ] . obo:DOID_0040029 obo:IAO_0000115 "A drug allergy that has_allergic_trigger trimethoprim."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294477004"^^xsd:string, "UMLS_CUI:C0571390"^^xsd:string ; oboInOwl:hasExactSynonym "Primsol allergy"@en, "TMP allergy"@en, "proloprim allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040029"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "trimethoprim allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_45924 ] . obo:DOID_0040030 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefixime."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294548002"^^xsd:string, "UMLS_CUI:C0571460"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040030"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefixime allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_472657 ] . obo:DOID_0040031 obo:IAO_0000115 "A drug allergy that has_allergic_trigger diclofenac."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293613006"^^xsd:string, "UMLS_CUI:C0570540"^^xsd:string ; oboInOwl:hasExactSynonym "Voltaren allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040031"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "diclofenac allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_47381 ] . obo:DOID_0040032 obo:IAO_0000115 "A drug allergy that has_allergic_trigger carbapenems."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294531005"^^xsd:string, "UMLS_CUI:C0571443"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040032"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carbapenem allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_46633 ] . obo:DOID_0040033 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger piperacillin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294515002"^^xsd:string, "UMLS_CUI:C0571427"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040033"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "piperacillin allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8232 ] . obo:DOID_0040034 obo:IAO_0000115 "A drug allergy that has_allergic_trigger rocuronium."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294233009"^^xsd:string, "UMLS_CUI:C0571149"^^xsd:string ; oboInOwl:hasExactSynonym "Esmeron allergy"@en, "Zemuron allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040034"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "rocuronium allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_8884 ] . obo:DOID_0040035 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sulfasalazine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293663001"^^xsd:string, "UMLS_CUI:C0570587"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040035"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sulfasalazine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9334 ] . obo:DOID_0040036 obo:IAO_0000115 "A drug allergy that has_allergic_trigger tubocurarine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294231006"^^xsd:string, "UMLS_CUI:C0571147"^^xsd:string ; oboInOwl:hasExactSynonym "DTC allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040036"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tubocurarine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_9774 ] . obo:DOID_0040037 obo:IAO_0000115 "A beta-lactam allergy that has_allergic_trigger aztreonam."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294565006"^^xsd:string, "UMLS_CUI:C0571476"^^xsd:string ; oboInOwl:hasExactSynonym "Azactam allergy"@en, "Primbactam allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040037"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "aztreonam allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_161680 ] . obo:DOID_0040038 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic."^^xsd:string ; oboInOwl:hasExactSynonym "Merrem allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040038"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "meropenem allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_43968 ] . obo:DOID_0040040 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to HDI"@en, "allergic asthma to HMDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040040"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "hexamethylene diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53578 ] . obo:DOID_0040041 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger isocyanates."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040041"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "isocyanates allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53212 ] . obo:DOID_0040042 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to MDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040042"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "diphenylmethane-4,4'-diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53218 ] . obo:DOID_0040043 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to TDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040043"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "toluene meta-diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53555 ] . obo:DOID_0040044 obo:IAO_0000115 "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to MIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040044"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "methyl isocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040041, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59059 ] . obo:DOID_0040045 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger nickel atom."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to Ni"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040045"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "nickel allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28112 ] . obo:DOID_0040046 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger nickel atom."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L23.0"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to Ni"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040046"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "nickel allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28112 ] . obo:DOID_0040047 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger trimellitic anhydride."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to TMA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040047"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "trimellitic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53050 ] . obo:DOID_0040048 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger phthalic anhydride."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040048"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phthalic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_36605 ] . obo:DOID_0040049 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger maleic anhydride."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to MA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040049"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "maleic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_474859 ] . obo:DOID_0040050 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040050"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tetrachlorophthalic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59097 ] . obo:DOID_0040051 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride."^^xsd:string ; oboInOwl:hasExactSynonym "allergic asthma to HHPA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040051"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "hexahydrophthalic anhydride allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_103210 ] . obo:DOID_0040052 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to MDI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040052"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "diphenylmethane-4,4'-diisocyanate allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53218 ] . obo:DOID_0040053 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger cobalt atom."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to Co"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040053"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cobalt allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_27638 ] . obo:DOID_0040054 obo:IAO_0000115 "An allergic asthma that has_allergic_trigger cobalt atom."^^xsd:string ; oboInOwl:hasExactSynonym "Co allergic asthma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040054"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cobalt allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_9415, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_27638 ] . obo:DOID_0040055 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger palladium."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to Pd"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040055"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "palladium allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_33363 ] . obo:DOID_0040056 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger chromium atom."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L23.0"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040056"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chromium allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28073 ] . obo:DOID_0040057 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger benzoic acid."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294186000"^^xsd:string, "UMLS_CUI:C0571102"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to benzoate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040057"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "benzoic acid allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_30746 ] . obo:DOID_0040058 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to PPD"@en, "allergic contact dermatitis to p-phenylenediamine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040058"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "1,4-phenylenediamine allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_51403 ] . obo:DOID_0040059 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger potassium dichromate."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040059"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "potassium dichromate allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060501, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53444 ] . obo:DOID_0040060 obo:IAO_0000115 "A photoallergic dermatitis that has_allergic_trigger ketoprofen."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293621000"^^xsd:string, "UMLS_CUI:C0570547"^^xsd:string ; oboInOwl:hasExactSynonym "photoallergic dermatitis to Orudis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040060"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "ketoprofen photoallergic dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, obo:DOID_3818, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_6128 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] . obo:DOID_0040061 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger remazole black-GR."^^xsd:string ; oboInOwl:hasExactSynonym "respiratory allergy to Reactive Black 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040061"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "remazole black respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_0060501, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53731 ] . obo:DOID_0040062 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger chloramine T."^^xsd:string ; oboInOwl:hasExactSynonym "respiratory allergy to Chloraseptin"@en, "respiratory allergy to Chlorazol"@en, "respiratory allergy to Trichlorol"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040062"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chloramine T respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_0060501, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53767 ] . obo:DOID_0040063 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide."^^xsd:string ; oboInOwl:hasExactSynonym "respiratory allergy to vinyl cyclohexene diepoxide"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040063"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "4-vinylcyclohexene dioxide respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59001 ] . obo:DOID_0040064 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger (-)-carvone."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to levo-carvone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040064"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carvone allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_15400 ] . obo:DOID_0040065 obo:IAO_0000115 "A drug allergy that has_allergic_trigger quinidine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294978001"^^xsd:string, "UMLS_CUI:C0571881"^^xsd:string ; oboInOwl:hasExactSynonym "Kinidin allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040065"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "quinidine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28593 ] . obo:DOID_0040066 obo:IAO_0000115 "A drug allergy that has_allergic_trigger melphalan."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:293751001"^^xsd:string, "UMLS_CUI:C0570673"^^xsd:string ; oboInOwl:hasExactSynonym "Alkeran allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040066"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "melphalan allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_28876 ] . obo:DOID_0040067 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:409640001"^^xsd:string, "UMLS_CUI:C1443961"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to neomycin sulphate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040067"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "neomycin sulfate allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_31635 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] . obo:DOID_0040068 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to PTBP"@en, "allergic contact dermatitis to butylphen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040068"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "4-tert-butylphenol allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_34444 ] . obo:DOID_0040069 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to DNCB"@en, "allergic contact dermatitis to dinitrochlorobenzene"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040069"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "1-chloro-2,4-dinitrobenzene allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_34718 ] . obo:DOID_0040070 obo:IAO_0000115 "A drug allergy that has_allergic_trigger co-trimoxazole."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294594004"^^xsd:string, "UMLS_CUI:C0571504"^^xsd:string ; oboInOwl:hasExactSynonym "Bactrim allergy"@en, "TMP/SMX allergy"@en, "cotrimoxazol allergy"@en, "trimethoprim/sulfamethoxazole allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040070"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "co-trimoxazole allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_3770 ] . obo:DOID_0040071 obo:IAO_0000115 "A drug allergy that has_allergic_trigger sodium aurothiomalate."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294239008"^^xsd:string, "UMLS_CUI:C0571155"^^xsd:string ; oboInOwl:hasExactSynonym "gold sodium thiomalate allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040071"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "sodium aurothiomalate allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_5516 ] . obo:DOID_0040072 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger parthenolide."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to feverfew"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040072"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "parthenolide allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_7939 ] . obo:DOID_0040073 obo:IAO_0000115 "A drug allergy that has_allergic_trigger disodium cromoglycate."^^xsd:string ; oboInOwl:hasExactSynonym "DSCG allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040073"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "disodium cromoglycate allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, obo:DOID_0060501, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_128458 ] . obo:DOID_0040074 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger formaldehyde."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294426006"^^xsd:string, "UMLS_CUI:C0571339"^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to formalin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040074"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "formaldehyde allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_16842 ] . obo:DOID_0040075 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to BIT"@en, "allergic contact dermatitis to benzisothiazolone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040075"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "benzo[d]isothiazol-3-one allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_167099 ] . obo:DOID_0040076 obo:IAO_0000115 "A drug allergy that has_allergic_trigger phthalyl group."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294571000"^^xsd:string, "UMLS_CUI:C0571482"^^xsd:string ; oboInOwl:hasExactSynonym "phthalyl allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040076"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "phthalyl group allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_26096 ] . obo:DOID_0040077 obo:IAO_0000115 "A drug allergy that has_allergic_trigger alcuronium bromide."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040077"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "alcuronium bromide allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_488385 ] . obo:DOID_0040078 obo:IAO_0000115 "A drug allergy that has_allergic_trigger gallamine."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:294229002"^^xsd:string, "UMLS_CUI:C0571145"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040078"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "gallamine allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_503442 ] . obo:DOID_0040079 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group."^^xsd:string ; oboInOwl:hasExactSynonym "allergic contact dermatitis to DNP"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040079"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "2,4-dinitrophenyl allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53018 ] . obo:DOID_0040080 obo:IAO_0000115 "A drug allergy that has_allergic_trigger patent blue V."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040080"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "patent blue V allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_59601 ] . obo:DOID_0040081 obo:IAO_0000115 "A respiratory allergy that has_allergic_trigger acid anhydride."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040081"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "acid anhydride respiratory allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_36606 ] . obo:DOID_0040082 obo:IAO_0000115 "A drug allergy that has_allergic_trigger oxirane."^^xsd:string ; oboInOwl:hasExactSynonym "ETO allergy"@en, "ethylene oxide allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040082"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "oxirane allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_27561 ] . obo:DOID_0040083 obo:IAO_0000115 "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J16.0"^^xsd:string, "ICD9CM:483.1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040083"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Chlamydia pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_83558 ] . obo:DOID_0040084 obo:IAO_0000115 "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J13"^^xsd:string, "ICD9CM:481"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040084"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Streptococcus pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1313 ] . obo:DOID_0040085 obo:IAO_0000115 "A bacterial infectious disease has_material_basis_in Bacteria."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:995.91"^^xsd:string, "SNOMEDCT_US_2020_03_01:10001005"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040085"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "bacterial sepsis"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0040086 obo:IAO_0000115 "A viral infectious disease has_material_basis_in BK polyomavirus."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:713886006"^^xsd:string, "UMLS_CUI:C1697878"^^xsd:string ; oboInOwl:hasExactSynonym "PVAN"@en, "polyomavirus associated nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040086"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Polyomavirus-associated nephropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1891762 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0040087 obo:IAO_0000115 "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040087"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060033, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] . obo:DOID_0040088 obo:IAO_0000115 "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040088"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060030, obo:DOID_3480, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001768 ] . obo:DOID_0040089 obo:IAO_0000115 "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040089"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune optic neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060033, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004904 ] . obo:DOID_0040090 obo:IAO_0000115 "An autoimmune disease of gastrointestinal tract that is located_in the stomach."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040090"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune gastritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, obo:DOID_76, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] . obo:DOID_0040091 obo:IAO_0000115 "An autoimmune disease of endocrine system that is located_in the pancreas."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000081012"^^xsd:string, "SNOMEDCT_US_2021_03_01:448542008"^^xsd:string, "UMLS_CUI:C2609129"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040091"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune pancreatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005, obo:DOID_26, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ; skos:exactMatch "MESH:D000081012"^^xsd:string . obo:DOID_0040092 obo:IAO_0000115 "An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M08.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:201802002"^^xsd:string, "UMLS_CUI:C0409675"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040092"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "juvenile ankylosing spondylitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0040093 obo:IAO_0000115 "A lupus erythematosus caused by chronic use of certain drugs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M32.0"^^xsd:string, "NCI:C114354"^^xsd:string, "ORDO:231111"^^xsd:string, "SNOMEDCT_US_2021_03_01:80258006"^^xsd:string, "UMLS_CUI:C0263591"^^xsd:string ; oboInOwl:hasExactSynonym "DIL"@en, "DILE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040093"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "drug-induced lupus erythematosus"^^xsd:string ; rdfs:subClassOf obo:DOID_8857, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_24431 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] . obo:DOID_0040094 obo:IAO_0000115 "An autoimmune disease of urogenital tract that is located_in the renal glomerulus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040094"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060049, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000074 ] . obo:DOID_0040095 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040095"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_114, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] . obo:DOID_0040096 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040096"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] . obo:DOID_0040097 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:427213005"^^xsd:string, "UMLS_CUI:C1328843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040097"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "autoimmune vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060051, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001981 ] . obo:DOID_0040098 obo:IAO_0000115 "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O26.4"^^xsd:string, "MESH:D006559"^^xsd:string, "SNOMEDCT_US_2018_03_01:86081009"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040098"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "pemphigus gestationis"^^xsd:string ; rdfs:subClassOf obo:DOID_9182, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002097 ] . obo:DOID_0040099 obo:IAO_0000115 "A vasculitis with purpuric ulcers."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L95.0"^^xsd:string, "ICD9CM:709.1"^^xsd:string ; oboInOwl:hasExactSynonym "livedoid vasculopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040099"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "livedoid vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_865 . obo:DOID_0040100 obo:IAO_0000115 "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:408539000"^^xsd:string, "UMLS_CUI:C0854359"^^xsd:string ; oboInOwl:hasExactSynonym "insulin autoimmune syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040100"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Hirata disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005 . obo:DOID_0040101 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea."^^xsd:string ; oboInOwl:hasExactSynonym "neoprene allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040101"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "N,N'-diphenylthiourea allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_138412 ] . obo:DOID_0040102 obo:IAO_0000115 "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea."^^xsd:string ; oboInOwl:hasExactSynonym "neoprene allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040102"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "N,N'-diethylthiourea allergic contact dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3042, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_82448 ] . obo:DOID_0040103 obo:IAO_0000115 "A cephalosporin allergy that has_allergic_trigger cefotiam."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040103"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cefotiam allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0040021, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_355510 ] . obo:DOID_0040104 obo:IAO_0000115 "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0040104"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "toluene 2,4-diisocyanate allergic asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0040043, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_53556 ] . obo:DOID_0050001 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050001"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Actinomadura madurae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050002 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050002"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Actinomadura pelletieri infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050003 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050003"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptomyces somaliensis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050004 obo:IAO_0000115 "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:301990003"^^xsd:string, "UMLS_CUI:C0578661"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050004"^^xsd:string ; a owl:Class ; rdfs:label "seminal vesicle acute gonorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_10400 . obo:DOID_0050007 obo:IAO_0000115 "A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050007"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous strongyloidiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050009 obo:IAO_0000115 "A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050009"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intestinal strongyloidiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050010 obo:IAO_0000115 "A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050010"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mansonella perstans infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050011 obo:IAO_0000115 "A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050011"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mansonella streptocerca infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050012 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash."^^xsd:string ; oboInOwl:hasDbXref "GARD:6038"^^xsd:string ; oboInOwl:hasExactSynonym "Chikungunya fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050012"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "chikungunya"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37124 ] . obo:DOID_0050013 obo:IAO_0000115 "An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050013"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "carbohydrate metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_0050014 obo:IAO_0000115 "A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "EHD"@en ; oboInOwl:id "DOID:0050014"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epizootic hemorrhagic disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050015 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050015"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rocio virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050024 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050024"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Ehrlichia ewingii ehrlichiosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050025 obo:IAO_0000115 "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050021"^^xsd:string, "DOID:0050022"^^xsd:string ; oboInOwl:hasExactSynonym "human granulocytic ehrlichiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "HGE"@en ; oboInOwl:id "DOID:0050025"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "human granulocytic anaplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10242, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6943 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050026 obo:IAO_0000115 "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14091"^^xsd:string ; oboInOwl:hasDbXref "GARD:72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Ehrlichiosis chafeensis"@en ; oboInOwl:id "DOID:0050026"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "human monocytic ehrlichiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10242, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_29930 obo:NCBITaxon_34613 obo:NCBITaxon_6945 ) ] ] . obo:DOID_0050032 obo:IAO_0000115 "An acquired metabolic disease that is characterized by abnormal mineral metabolism."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050032"^^xsd:string ; a owl:Class ; rdfs:label "mineral metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_0050035 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050034"^^xsd:string, "DOID:0050036"^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia africae spotted fever"@en, "south african tick-bite fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050035"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "African tick-bite fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35788 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34608 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34610 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050041 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050041"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Astrakhan spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_781 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_127007 obo:NCBITaxon_34632 ) ] ] . obo:DOID_0050042 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050042"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Indian tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_781 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34632 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050043 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Israeli spotted fever"@en ; oboInOwl:id "DOID:0050043"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Israeli tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_781 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34632 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050046 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy."^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia heilongjiangensis spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050046"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Far Eastern spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_226665 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_523089 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050047 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050048"^^xsd:string ; oboInOwl:hasExactSynonym "Thai tick typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "FISF"@en ; oboInOwl:id "DOID:0050047"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Flinders Island spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37816 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34607 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050050 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050049"^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia japonica spotted fever"@en, "oriental spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050050"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Japanese spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35790 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_181088 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34619 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050051 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash."^^xsd:string ; oboInOwl:hasExactSynonym "maculatum infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050051"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Rickettsia parkeri spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35792 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34609 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050052 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050056"^^xsd:string, "DOID:1708"^^xsd:string ; oboInOwl:hasDbXref "GARD:7585"^^xsd:string ; oboInOwl:hasExactSynonym "Tick typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Brazillian spotted"@en, "Choix"@en, "Exanthematic typhus of Sao Paulo"@en, "Fiebre maculosa"@en, "Fiebre manchada"@en, "Sao Paulo typhus"@en, "So Paulo fever"@en, "Tobia fever"@en ; oboInOwl:id "DOID:0050052"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Rocky Mountain spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_783 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34620 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34621 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050053 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050053"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete Rickettsia honei spotted fever"^^xsd:string ; owl:deprecated true . obo:DOID_0050059 obo:IAO_0000115 "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050059"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "oropharyngeal anthrax"^^xsd:string ; rdfs:subClassOf obo:DOID_13386, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050061 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004887"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050061"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "erysipeloid"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1648 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_0050063 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050063"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete abortive plague"^^xsd:string ; owl:deprecated true . obo:DOID_0050065 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050065"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete cutaneous listeriosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050066 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050066"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Listeria meningoencephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050067 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050067"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Listeria septicaemia"^^xsd:string ; owl:deprecated true . obo:DOID_0050068 obo:IAO_0000115 "A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050068"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pestis minor"^^xsd:string ; owl:deprecated true . obo:DOID_0050069 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050069"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia pestis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050070 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050070"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete plague meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050072 obo:IAO_0000115 "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050072"^^xsd:string ; a owl:Class ; rdfs:label "adiaspiromycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_41283 obo:NCBITaxon_73230 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0002048 ) ] ] . obo:DOID_0050073 obo:IAO_0000115 "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050073"^^xsd:string ; a owl:Class ; rdfs:label "invasive aspergillosis"^^xsd:string ; rdfs:subClassOf obo:DOID_13564, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5052 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_0050074 obo:IAO_0000115 "An aspergillosis that involves fungal infection of the tonsils by Aspergillus species."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050074"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tonsillar aspergillosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050075 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050076"^^xsd:string, "DOID:0050077"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050075"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary blastomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050078 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050078"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cervix tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050079 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050079"^^xsd:string ; a owl:Class ; rdfs:label "obsolete niacin deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_0050080 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050080"^^xsd:string ; a owl:Class ; rdfs:label "obsolete iodine deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_0050082 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050081"^^xsd:string ; oboInOwl:hasExactSynonym "TT virus liver infection"@en, "Transfussion-transmitted virus liver infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "human circovirus infectious disease"@en ; oboInOwl:id "DOID:0050082"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatic Torque teno virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050083 obo:IAO_0000115 "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency."^^xsd:string ; oboInOwl:hasDbXref "GARD:8761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050083"^^xsd:string ; a owl:Class ; rdfs:label "Keshan disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_0050084 obo:IAO_0000115 "An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges."^^xsd:string ; oboInOwl:hasExactSynonym "Feline viral rhinotracheitis"@en, "feline coryza"@en, "feline influenza"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050084"^^xsd:string ; a owl:Class ; rdfs:comment "Not a human disease."^^xsd:string ; rdfs:label "obsolete rhinotracheitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050085 obo:IAO_0000115 "A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050085"^^xsd:string ; a owl:Class ; rdfs:label "obsolete entomophthoromycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050086 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050086"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050088 obo:IAO_0000115 "A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050088"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gastrointestinal mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050089 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050089"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050090 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050090"^^xsd:string ; a owl:Class ; rdfs:label "obsolete rhinocerebral mucormycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050091 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated paracoccidioidomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050092 obo:IAO_0000115 "A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050092"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary paracoccidioidomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050093 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050093"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050094 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050094"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphocutaneous sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050095 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050095"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050096 obo:IAO_0000115 "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules."^^xsd:string ; oboInOwl:hasExactSynonym "dermatophytosis of beard"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050096"^^xsd:string ; a owl:Class ; rdfs:label "tinea barbae"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_523103 obo:NCBITaxon_63417 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002027 ] . obo:DOID_0050097 obo:IAO_0000115 "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050097"^^xsd:string ; a owl:Class ; rdfs:label "ectothrix infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_421, obo:DOID_4337, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_63417 obo:NCBITaxon_63418 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001037 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002076 ] . obo:DOID_0050098 obo:IAO_0000115 "An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050098"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum audouinii tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050099 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050099"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum canis tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050100 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050100"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum distortum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050101 obo:IAO_0000115 "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050101"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum ferrugineum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050102 obo:IAO_0000115 "An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050102"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum gypseum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050103 obo:IAO_0000115 "An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050103"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum nanum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050104 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton verrucosum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050105 obo:IAO_0000115 "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050105"^^xsd:string ; a owl:Class ; rdfs:label "endothrix infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_421, obo:DOID_4337, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4890 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001037 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002076 ] . obo:DOID_0050106 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050106"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton soudanense tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050107 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton tonsurans tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050108 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050108"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton violaceum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050110 obo:IAO_0000115 "A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton schoenleinii tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050111 obo:IAO_0000115 "An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Microsporum fulvum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050112 obo:IAO_0000115 "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050112"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton megninii tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050113 obo:IAO_0000115 "An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton equinum tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050115 obo:IAO_0000115 "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050115"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichophyton yaoundei tinea capitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050116 obo:IAO_0000115 "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050116"^^xsd:string ; a owl:Class ; rdfs:label "tinea imbricata"^^xsd:string ; rdfs:subClassOf obo:DOID_12179, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_63419 ] . obo:DOID_0050117 obo:IAO_0000115 "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions."^^xsd:string ; obo:OBI_9991118 "infectious disease"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10115"^^xsd:string, "DOID:11078"^^xsd:string, "DOID:1304"^^xsd:string, "DOID:1321"^^xsd:string, "DOID:2040"^^xsd:string, "DOID:2288"^^xsd:string, "DOID:3099"^^xsd:string, "DOID:4120"^^xsd:string, "DOID:4620"^^xsd:string, "DOID:5256"^^xsd:string, "DOID:945"^^xsd:string, "DOID:95"^^xsd:string, "DOID:9532"^^xsd:string, "DOID:9696"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:079.0"^^xsd:string, "UMLS_CUI:C0001485"^^xsd:string ; oboInOwl:hasExactSynonym "infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050117"^^xsd:string ; oboInOwl:inSubset doid:DO_GXD_slim, doid:DO_MGI_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "DO:wk"^^xsd:string ; rdfs:label "disease by infectious agent"^^xsd:string ; rdfs:subClassOf obo:DOID_4 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ] ) ] . obo:DOID_0050118 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10840"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A83.5"^^xsd:string, "ICD9CM:062.5"^^xsd:string, "MESH:D004670"^^xsd:string, "SNOMEDCT_US_2021_03_01:69627004"^^xsd:string, "UMLS_CUI:C0014053"^^xsd:string ; oboInOwl:hasExactSynonym "California Encephalitis"@en, "California virus encephalitis"@en, "Neuroinvasive California encephalitis virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050118"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "La Crosse encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11577 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7162 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0050119 obo:IAO_0000115 "A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder."^^xsd:string ; oboInOwl:hasExactSynonym "WNND"@en, "WNNS"@en, "West nile neuroinvasive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050119"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete West Nile virus neurological syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050120 obo:IAO_0000115 "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6453"^^xsd:string ; oboInOwl:hasDbXref "GARD:6589"^^xsd:string, "ICD10CM:D76.1"^^xsd:string, "MESH:D051359"^^xsd:string, "NCI:C34792"^^xsd:string, "OMIM:PS267700"^^xsd:string, "ORDO:540"^^xsd:string, "SNOMEDCT_US_2021_03_01:190958003"^^xsd:string, "UMLS_CUI:C0024291"^^xsd:string ; oboInOwl:hasExactSynonym "haemophagocytic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050120"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. MESH:C537250 added from NeuroDevNet [WAK]."""^^xsd:string ; rdfs:label "hemophagocytic lymphohistiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_75, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_0050123 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050123"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050125 obo:IAO_0000115 "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth."^^xsd:string ; oboInOwl:hasExactSynonym "DSS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050125"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dengue shock syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12205, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000059 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ] . obo:DOID_0050126 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures."^^xsd:string ; oboInOwl:hasExactSynonym "valtice fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Tahyna virus infection"@en ; oboInOwl:id "DOID:0050126"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Tahyna virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050127 obo:IAO_0000115 "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2052"^^xsd:string, "DOID:9564"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J01"^^xsd:string, "ICD9CM:461"^^xsd:string, "NCI:C128411"^^xsd:string, "SNOMEDCT_US_2021_03_01:195649005"^^xsd:string, "UMLS_CUI:C0149512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1352, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050129 obo:IAO_0000115 "Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050129"^^xsd:string ; a owl:Class ; rdfs:label "secretory diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050130 obo:IAO_0000115 "Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050130"^^xsd:string ; a owl:Class ; rdfs:label "osmotic diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_0050131 obo:IAO_0000115 "Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050131"^^xsd:string ; a owl:Class ; rdfs:label "motility-related diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050132 obo:IAO_0000115 "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050132"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050133 obo:IAO_0000115 "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13370"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B36.9"^^xsd:string, "MESH:D010854"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "SNOMEDCT_US_2021_03_01:47382004"^^xsd:string, "UMLS_CUI:C0031898"^^xsd:string, "UMLS_CUI:C2980104"^^xsd:string ; oboInOwl:hasExactSynonym "Steroid-modified tinea infection"@en, "piedra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050133"^^xsd:string ; a owl:Class ; rdfs:comment "Adding a UMLS CUI for piedra C2980104."^^xsd:string ; rdfs:label "superficial mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_0050134 obo:IAO_0000115 "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050134"^^xsd:string ; a owl:Class ; rdfs:label "cutaneous mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_0050135 obo:IAO_0000115 "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050135"^^xsd:string ; a owl:Class ; rdfs:label "subcutaneous mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0002072 ) ] ] . obo:DOID_0050136 obo:IAO_0000115 "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050136"^^xsd:string ; a owl:Class ; rdfs:label "systemic mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564 . obo:DOID_0050138 obo:IAO_0000115 "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050138"^^xsd:string ; a owl:Class ; rdfs:label "podoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4976 . obo:DOID_0050139 obo:IAO_0000115 "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050139"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Opisthorchis felineus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050140 obo:IAO_0000115 "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050140"^^xsd:string ; a owl:Class ; rdfs:label "acute diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050141 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050141"^^xsd:string ; a owl:Class ; rdfs:label "intestinal botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ] . obo:DOID_0050143 obo:IAO_0000115 "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050143"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "asymptomatic dengue"^^xsd:string ; rdfs:subClassOf obo:DOID_12205 . obo:DOID_0050144 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development."^^xsd:string ; oboInOwl:hasDbXref "GARD:6815"^^xsd:string, "MESH:D007619"^^xsd:string, "NCI:C84797"^^xsd:string, "ORDO:98861"^^xsd:string, "SNOMEDCT_US_2020_03_01:42402006"^^xsd:string ; oboInOwl:hasExactSynonym "Kartagener's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050144"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kartagener syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0050145 obo:IAO_0000115 "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13750"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J35.02"^^xsd:string, "ICD9CM:474.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:195794009"^^xsd:string, "UMLS_CUI:C0396023"^^xsd:string ; oboInOwl:hasExactSynonym "chronic adenoiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050145"^^xsd:string ; a owl:Class ; rdfs:label "adenoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0050147 obo:IAO_0000115 "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans."^^xsd:string ; oboInOwl:hasDbXref "MESH:D059249"^^xsd:string ; oboInOwl:hasExactSynonym "Singapore ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050147"^^xsd:string ; a owl:Class ; rdfs:label "otomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_0050148 obo:IAO_0000115 "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11795"^^xsd:string, "DOID:9390"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J04"^^xsd:string, "ICD10CM:J37.1"^^xsd:string, "ICD9CM:464"^^xsd:string, "ICD9CM:476.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:276443001"^^xsd:string, "SNOMEDCT_US_2021_03_01:83271005"^^xsd:string, "UMLS_CUI:C0155811"^^xsd:string, "UMLS_CUI:C0155837"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050148"^^xsd:string ; a owl:Class ; rdfs:label "laryngotracheitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0050150 obo:IAO_0000115 "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050150"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Pontiac fever"^^xsd:string ; rdfs:subClassOf obo:DOID_10458, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_0050151 obo:IAO_0000115 "A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050151"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tracheobronchial tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050152 obo:IAO_0000115 "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J69.0"^^xsd:string, "MESH:D011015"^^xsd:string, "SNOMEDCT_US_2021_03_01:47839005"^^xsd:string, "UMLS_CUI:C0032290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050152"^^xsd:string ; a owl:Class ; rdfs:label "aspiration pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_874, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000493 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000603 ] . obo:DOID_0050153 obo:IAO_0000115 "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050153"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary aspergilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_13564, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5052 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_0050154 obo:IAO_0000115 "A bacterial pneumonia caused by the genus Mycoplasma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050154"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete mycoplasmal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050155 obo:IAO_0000115 "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050155"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_FlyBase_slim, doid:DO_GXD_slim ; a owl:Class ; rdfs:label "sensory system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0050156 obo:IAO_0000115 "A pulmonary fibrosis that is characterized by scarring of the lung."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000768"^^xsd:string, "GARD:8609"^^xsd:string, "ICD10CM:J84.112"^^xsd:string, "ICD9CM:516.31"^^xsd:string, "MESH:D054990"^^xsd:string, "NCI:C35716"^^xsd:string, "OMIM:178500"^^xsd:string, "SNOMEDCT_US_2021_03_01:28168000"^^xsd:string, "UMLS_CUI:C1800706"^^xsd:string ; oboInOwl:hasExactSynonym "FIBROCYSTIC PULMONARY DYSPLASIA"@en, "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL"@en, "cryptogenic fibrosing alveolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "idiopathic pulmonary fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3770, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:HP_0006530 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:HP_0100699 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] ] . obo:DOID_0050157 obo:IAO_0000115 "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2798"^^xsd:string ; oboInOwl:hasDbXref "GARD:1620"^^xsd:string, "ICD10CM:J84.116"^^xsd:string, "ICD9CM:516.36"^^xsd:string, "MESH:D018549"^^xsd:string, "NCI:C62586"^^xsd:string, "SNOMEDCT_US_2021_03_01:129458007"^^xsd:string, "UMLS_CUI:C0242770"^^xsd:string ; oboInOwl:hasExactSynonym "BOOP"@en, "Cryptogenic organising pneumonitis"@en, "Cryptogenic organizing pneumonitis"@en, "bronchiolitis obliterans organising pneumonia"@en, "bronchiolitis obliterans organizing pneumonia"@en, "cryptogenic organising pneumonia"@en, "idiopathic bronchiolitis obliterans with organising pneumonia"@en, "idiopathic bronchiolitis obliterans with organizing pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cryptogenic organizing pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050158 obo:IAO_0000115 "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2796"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J84.117"^^xsd:string, "ICD9CM:516.37"^^xsd:string, "MESH:C562470"^^xsd:string, "NCI:C35288"^^xsd:string, "OMIM:263000"^^xsd:string, "SNOMEDCT_US_2021_03_01:8549006"^^xsd:string, "UMLS_CUI:C0238378"^^xsd:string ; oboInOwl:hasExactSynonym "RBILD"@en, "familial desquamative interstitial pneumonitis"@en, "respiratory bronchiolitis-associated interstitial lung disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050158"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "desquamative interstitial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797 . obo:DOID_0050159 obo:IAO_0000115 "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050159"^^xsd:string ; a owl:Class ; rdfs:label "lymphoid interstitial pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_2797, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050160 obo:IAO_0000115 "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches."^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary anthrax"@en, "respiratory anthrax"@en, "wool-sorters' disease"@en, "woolsorters' disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050160"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "inhalation anthrax"^^xsd:string ; rdfs:subClassOf obo:DOID_7427, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0050161 obo:IAO_0000115 "A respiratory system disease which involves the lower respiratory tract."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:478.19"^^xsd:string, "SNOMEDCT_US_2021_03_01:195823002"^^xsd:string, "UMLS_CUI:C0029581"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050161"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "lower respiratory tract disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1579 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001558 ] ) ] . obo:DOID_0050162 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050162"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza encephalopathy"^^xsd:string ; owl:deprecated true . obo:DOID_0050163 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_0050164 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050164"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza myositis"^^xsd:string ; owl:deprecated true . obo:DOID_0050165 obo:IAO_0000115 "A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050165"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous mesenteric gland"^^xsd:string ; owl:deprecated true . obo:DOID_0050166 obo:IAO_0000115 "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A18.17"^^xsd:string, "ICD9CM:016.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:186242002"^^xsd:string, "UMLS_CUI:C0152828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050166"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculous salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1962, obo:DOID_2149, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] . obo:DOID_0050167 obo:IAO_0000115 "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:8466"^^xsd:string, "OMIM:240300"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune Polyglandular Syndrome I"@en, "Whitaker syndrome"@en, "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050167"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune polyendocrine syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14040 . obo:DOID_0050168 obo:IAO_0000115 "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:7611"^^xsd:string, "OMIM:269200"^^xsd:string ; oboInOwl:hasExactSynonym "Schmidt syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050168"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune polyendocrine syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_14040 . obo:DOID_0050169 obo:IAO_0000115 "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight."^^xsd:string ; oboInOwl:hasDbXref "GARD:6225"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050169"^^xsd:string ; a owl:Class ; rdfs:label "cutaneous lupus erythematosus"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8857 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8857 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_0050170 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050170"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Jamestown Canyon encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050171 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050171"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete snowshoe hare encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050172 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050172"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete trivittatus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050173 obo:IAO_0000115 "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050173"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete inkoo encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050174 obo:IAO_0000115 "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050174"^^xsd:string ; a owl:Class ; rdfs:label "Kunjin encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11077 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_162997 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ] . obo:DOID_0050175 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050176"^^xsd:string, "DOID:10251"^^xsd:string, "DOID:10252"^^xsd:string ; oboInOwl:hasDbXref "GARD:5216"^^xsd:string, "ICD10CM:A84.1"^^xsd:string, "ICD9CM:063.2"^^xsd:string, "MESH:D004675"^^xsd:string, "SNOMEDCT_US_2021_03_01:16901001"^^xsd:string, "UMLS_CUI:C0014054"^^xsd:string ; oboInOwl:hasExactSynonym "Central European encephalitis"@en, "Far Eastern TBE"@en, "Russian spring-summer encephalitis"@en, "Siberian tick-borne encephalitis"@en, "Taiga encephalitis"@en, "Western European tick-borne encephalitis"@en, "west-Siberian encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050175"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "tick-borne encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11084 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_6944 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ] . obo:DOID_0050177 obo:IAO_0000115 "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050177"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim ; a owl:Class ; rdfs:label "monogenic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_630 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] ) ] . obo:DOID_0050178 obo:IAO_0000115 "A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050178"^^xsd:string ; a owl:Class ; rdfs:label "obsolete complex genetic disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050179 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050179"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Powassan encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050175, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11083 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000124 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050180 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050180"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete Colorado tick fever encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050181 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050181"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050182 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:8698"^^xsd:string ; oboInOwl:hasExactSynonym "Herpes zoster encephalitis"@en, "Postchickenpox encephalitis"@en, "Varicella Zoster Encephalitis"@en, "postvaricella encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050182"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Varicella-zoster virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050183 obo:IAO_0000115 "An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050183"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Epstein-Barr virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050184 obo:IAO_0000115 "A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9127"^^xsd:string ; oboInOwl:hasExactSynonym "Post measles encephalitis (disorder)"@en, "Post-measles encephalitis"@en, "postmeasles encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050184"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050185 obo:IAO_0000115 "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness."^^xsd:string ; oboInOwl:hasDbXref "GARD:6372"^^xsd:string, "MESH:D004892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050185"^^xsd:string ; a owl:Class ; rdfs:label "erythema multiforme"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_0050186 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050186"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050187 obo:IAO_0000115 "A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9231"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050187"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rubella virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050188 obo:IAO_0000115 "An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050188"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackievirus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050189 obo:IAO_0000115 "An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050189"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polioencephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050190 obo:IAO_0000115 "An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050190"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050191 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050191"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050192 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050192"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Nipah virus encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934 . obo:DOID_0050193 obo:IAO_0000115 "A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050193"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Lymphocytic choriomeningitis virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050194 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050194"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Argentine hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2169991 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_56212 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000114 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000317 ] . obo:DOID_0050195 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050195"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Bolivian hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11628 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_56210 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000867 ] . obo:DOID_0050196 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050196"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Venezuelan hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_45219 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_134742 obo:NCBITaxon_157541 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000323 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000448 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000756 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019147 ] . obo:DOID_0050197 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050197"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brazilian hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2169992 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0050198 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050198"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Chapare hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_499556 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050199 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050199"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Whitewater Arroyo hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_46919 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_42408 ] . obo:DOID_0050200 obo:IAO_0000115 "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050200"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Korean hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10116 obo:NCBITaxon_39030 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000006 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000059 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050201 obo:IAO_0000115 "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050201"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "nephropathia epidemica"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_447135 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000006 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050202 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050202"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "lujo hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0050203 obo:IAO_0000115 "A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050203"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050204 obo:IAO_0000115 "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050204"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Epstein-Barr virus hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1884, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10376 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000539 ] . obo:DOID_0050205 obo:IAO_0000115 "A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050205"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Herpes simplex virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050206 obo:IAO_0000115 "An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050206"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050207 obo:IAO_0000115 "A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050207"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rubella virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050208 obo:IAO_0000115 "A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050208"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete yellow fever hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050209 obo:IAO_0000115 "A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050209"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050210 obo:IAO_0000115 "A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050210"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Varicella-zoster virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050211 obo:IAO_0000115 "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050211"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "swine influenza"^^xsd:string ; rdfs:subClassOf obo:DOID_8469, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_11320 obo:NCBITaxon_11552 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050212 obo:IAO_0000115 "A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "Campylobacter Gastroenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050212"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Campylobacter jejuni gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050213 obo:IAO_0000115 "A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050213"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Vibrio gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050214 obo:IAO_0000115 "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G70.80"^^xsd:string, "ICD9CM:358.3"^^xsd:string, "MESH:D015624"^^xsd:string, "NCI:C3155"^^xsd:string, "SNOMEDCT_US_2021_03_01:230688006"^^xsd:string, "UMLS_CUI:C0022972"^^xsd:string ; oboInOwl:hasExactSynonym "Eaton-Lambert syndrome"@en, "LEMS"@en, "Lambert-Eaton syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050214"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Lambert-Eaton myasthenic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_0060033, obo:DOID_439, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_0050215 obo:IAO_0000115 "A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever."^^xsd:string ; oboInOwl:hasExactSynonym "Staphylococcus Aureus Gastroenteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050215"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Staphylococcus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050216 obo:IAO_0000115 "A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050216"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bacillus cereus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050217 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050217"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Sapovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050218 obo:IAO_0000115 "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver."^^xsd:string ; oboInOwl:hasExactSynonym "human polycystic hydatid disease"@en, "neotropical echinococcosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050218"^^xsd:string ; a owl:Class ; rdfs:label "polycystic echinococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1496, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_0050219 obo:IAO_0000115 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050219"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hepeviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050220 obo:IAO_0000115 "A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission."^^xsd:string ; oboInOwl:hasExactSynonym "Q fever pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050220"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Coxiella burnetii pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050221 obo:IAO_0000115 "A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice."^^xsd:string ; oboInOwl:hasExactSynonym "Q fever hepatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050221"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Coxiella burnetii hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050222 obo:IAO_0000115 "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050222"^^xsd:string ; a owl:Class ; rdfs:label "selective IgM deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11702 . obo:DOID_0050223 obo:IAO_0000115 "A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050223"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal gastritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050224 obo:IAO_0000115 "A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050224"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Helicobacter heilmannii infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050225 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050225"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum gastritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050226 obo:IAO_0000115 "An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050226"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Morganella morganii intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050227 obo:IAO_0000115 "A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050227"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Vibrio cholerae O139 cholera"^^xsd:string ; owl:deprecated true . obo:DOID_0050228 obo:IAO_0000115 "An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever."^^xsd:string ; oboInOwl:hasExactSynonym "Entamoeba histolytica dysentery"@en, "amebic dysentery"@en, "amoebic dysentery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete amebic dysentery"^^xsd:string ; owl:deprecated true . obo:DOID_0050229 obo:IAO_0000115 "An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050229"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli dysentery"^^xsd:string ; owl:deprecated true . obo:DOID_0050230 obo:IAO_0000115 "A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050230"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intestinal capillariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050231 obo:IAO_0000115 "A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050231"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hepatic capillariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050232 obo:IAO_0000115 "A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050232"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pulmonary capillariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050233 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050233"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Balamuthia mandrillaris infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050234 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11334"^^xsd:string ; oboInOwl:hasExactSynonym "free-living ameba infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050234"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acanthamoeba infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050235 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050235"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Alveolata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050236 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050236"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Heterolobosea infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050237 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050237"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Euglenozoa infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050238 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Parabasalia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050239 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fornicata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050240 obo:IAO_0000115 "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050240"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonadida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050241 obo:IAO_0000115 "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050241"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Tritrichomonadida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050242 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma."^^xsd:string ; oboInOwl:hasDbXref "GARD:9554"^^xsd:string ; oboInOwl:hasExactSynonym "Naegleria fowleri infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050242"^^xsd:string ; a owl:Class ; rdfs:label "primary amebic meningoencephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, obo:DOID_331, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2789 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_0050243 obo:IAO_0000115 "An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050243"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Apicomplexa infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050244 obo:IAO_0000115 "An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050244"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Coccidia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050245 obo:IAO_0000115 "An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Aconoidasida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050246 obo:IAO_0000115 "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death."^^xsd:string ; oboInOwl:hasDbXref "GARD:12651"^^xsd:string ; oboInOwl:hasExactSynonym "Acanthamoeba encephalitis"@en, "Acanthamoeba granulomatous encephalitis"@en, "Granulomatous Amebic Encephalitis due to Acanthamoeba"@en, "granulomatous amoebic encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050246"^^xsd:string ; a owl:Class ; rdfs:label "granulomatous amebic encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050242, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0050247 obo:IAO_0000115 "A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050247"^^xsd:string ; a owl:Class ; rdfs:label "obsolete parasitic stramenopiles infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050249 obo:IAO_0000115 "A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050249"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Brugia timori filariasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050250 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050250"^^xsd:string ; a owl:Class ; rdfs:label "philophthalmiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614, obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_0050251 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050251"^^xsd:string ; a owl:Class ; rdfs:label "coenurosis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_37, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050252 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050252"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Dipylidium caninum infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050253 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050253"^^xsd:string ; a owl:Class ; rdfs:label "mesocestoidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000188 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050254 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050254"^^xsd:string ; a owl:Class ; rdfs:label "acanthocephaliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000229 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_0050255 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Uncinaria stenocephala infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050256 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis."^^xsd:string ; oboInOwl:hasDbXref "GARD:683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050256"^^xsd:string ; a owl:Class ; rdfs:label "angiostrongyliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_5295, obo:DOID_5614, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6312 ] . obo:DOID_0050257 obo:IAO_0000115 "An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Angiostrongylus cantonensis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050258 obo:IAO_0000115 "An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050258"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Angiostrongylus costaricensis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050259 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050259"^^xsd:string ; a owl:Class ; rdfs:label "baylisascariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_319, obo:DOID_5295, obo:DOID_5614, obo:DOID_883, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000008 ] . obo:DOID_0050260 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050260"^^xsd:string ; a owl:Class ; rdfs:label "dioctophymiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_557, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_0050261 obo:IAO_0000115 "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050261"^^xsd:string ; a owl:Class ; rdfs:label "thelaziasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_0050262 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050262"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acoelomata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050263 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050263"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pseudocoelomata infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050264 obo:IAO_0000115 "A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050264"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acanthocephala infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050265 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050265"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tick paralysis"^^xsd:string ; owl:deprecated true . obo:DOID_0050266 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo."^^xsd:string ; oboInOwl:hasDbXref "GARD:393"^^xsd:string, "MESH:D058285"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050266"^^xsd:string ; a owl:Class ; rdfs:label "tungiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_0050267 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050267"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ancylostoma caninum ancylostomiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050268 obo:IAO_0000115 "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050268"^^xsd:string ; a owl:Class ; rdfs:label "ophthalmomyiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_11080, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_0050269 obo:IAO_0000115 "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A59.00"^^xsd:string, "MESH:D014247"^^xsd:string, "NCI:C35083"^^xsd:string ; oboInOwl:hasExactSynonym "urogenital trichomonas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050269"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Trichomonas vaginalis trichomoniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_121, obo:DOID_1947, obo:DOID_2059, obo:DOID_2253, obo:DOID_732, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5722 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_0050270 obo:IAO_0000115 "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050270"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Trichomonas tenax trichomoniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1947, obo:DOID_403, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_43075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000011 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] . obo:DOID_0050271 obo:IAO_0000115 "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050271"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050272 obo:IAO_0000115 "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050272"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous basidiomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050273 obo:IAO_0000115 "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050273"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Neoscytalidium dimidiatum infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050274 obo:IAO_0000115 "An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Scopulariopsis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050275 obo:IAO_0000115 "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050275"^^xsd:string ; a owl:Class ; rdfs:label "obsolete onychomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050276 obo:IAO_0000115 "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050276"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subcutaneous ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050277 obo:IAO_0000115 "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050277"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subcutaneous fungi incertae sedis mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050278 obo:IAO_0000115 "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050278"^^xsd:string ; a owl:Class ; rdfs:label "basidiobolomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050135 . obo:DOID_0050279 obo:IAO_0000115 "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050279"^^xsd:string ; a owl:Class ; rdfs:label "conidiobolomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050135 . obo:DOID_0050280 obo:IAO_0000115 "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050280"^^xsd:string ; a owl:Class ; rdfs:label "obsolete superficial ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050281 obo:IAO_0000115 "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050281"^^xsd:string ; a owl:Class ; rdfs:label "obsolete superficial basidiomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050282 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050282"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary systemic ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050283 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050283"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Stachybotrys infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050284 obo:IAO_0000115 "An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050284"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic ascomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050285 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050285"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic basidiomycota mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050286 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050286"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic fungi incertae sedis mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050287 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete opportunistic microsporidia mycosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050288 obo:IAO_0000115 "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050288"^^xsd:string ; a owl:Class ; rdfs:label "penicilliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_37727 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0050289 obo:IAO_0000115 "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D060585"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050289"^^xsd:string ; a owl:Class ; rdfs:label "fusariosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0050290 obo:IAO_0000115 "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body."^^xsd:string ; oboInOwl:hasDbXref "MESH:D060586"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050290"^^xsd:string ; a owl:Class ; rdfs:label "trichosporonosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5552 ] . obo:DOID_0050291 obo:IAO_0000115 "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050291"^^xsd:string ; a owl:Class ; rdfs:label "parasitic Ichthyosporea infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1398 . obo:DOID_0050292 obo:IAO_0000115 "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050292"^^xsd:string ; a owl:Class ; rdfs:label "primary systemic mycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050136, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_0050293 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050293"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Scopulariopsis brevicaulis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050294 obo:IAO_0000115 "A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050294"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Scytalidium hyalinum infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050295 obo:IAO_0000115 "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain."^^xsd:string ; oboInOwl:hasExactSynonym "plaque sporotrichosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050295"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous sporotrichosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050296 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050296"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Asfarviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050297 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050297"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Francisellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050298 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3123"^^xsd:string, "DOID:3124"^^xsd:string ; oboInOwl:hasExactSynonym "Adenoviridae infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050298"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050299 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050299"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Simplexvirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050300 obo:IAO_0000115 "A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050300"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Deltavirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050301 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Polyomaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050302 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050302"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Varicellovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050303 obo:IAO_0000115 "A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050303"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hepacivirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050304 obo:IAO_0000115 "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050304"^^xsd:string ; a owl:Class ; rdfs:label "aniseikonia"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 . obo:DOID_0050305 obo:IAO_0000115 "A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050305"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Arteriviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050306 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050306"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete familial abdominal aortic aneurysm"^^xsd:string ; owl:deprecated true . obo:DOID_0050307 obo:IAO_0000115 "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050307"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Bornaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050308 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050308"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Alkhurma hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11320, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_172148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_69826 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000114 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050309 obo:IAO_0000115 "A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050309"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Measles virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050310 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050310"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Listeriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050311 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050311"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Helicobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050312 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050312"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Campylobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050313 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050313"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Brucellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050314 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050314"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Erysipelotrichaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050315 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050315"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Clostridiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050316 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050316"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Staphylococcaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050317 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050317"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Streptococcaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050318 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050318"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Burkholderiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050319 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050319"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Legionellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050320 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050320"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Alcaligenaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050321 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050321"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Pseudomonadaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050322 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050322"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Vibrionaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050323 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050323"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Coxiellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050324 obo:IAO_0000115 "A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050324"^^xsd:string ; a owl:Class ; rdfs:label "obsolete physical disorder OBSOLETED TERM"^^xsd:string ; owl:deprecated true . obo:DOID_0050325 obo:IAO_0000115 "A medical disorder that is an illness caused by abnormalities in genes or chromosomes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050325"^^xsd:string ; a owl:Class ; rdfs:label "obsolete genetic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0050327 oboInOwl:hasExactSynonym "Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050327"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete peripheral dysostosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050328 obo:IAO_0000115 "A hypothyroidism that is present at birth."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11631"^^xsd:string, "DOID:11632"^^xsd:string ; oboInOwl:hasDbXref "GARD:1487"^^xsd:string, "ICD10CM:E00.1"^^xsd:string, "ICD10CM:E03.1"^^xsd:string, "ICD9CM:243"^^xsd:string, "MESH:D003409"^^xsd:string, "NCI:C26734"^^xsd:string, "NCI:C98921"^^xsd:string, "OMIM:PS275200"^^xsd:string, "SNOMEDCT_US_2021_03_01:217710005"^^xsd:string, "SNOMEDCT_US_2021_03_01:75065003"^^xsd:string, "UMLS_CUI:C0010308"^^xsd:string, "UMLS_CUI:C0342200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital hypothyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1459, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050329 obo:IAO_0000115 "A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050329"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mental disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0050331 obo:IAO_0000115 "A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes."^^xsd:string ; oboInOwl:hasDbXref "OMIM:149730"^^xsd:string ; oboInOwl:hasExactSynonym "LEVY-HOLLISTER SYNDROME"@en, "lacrimoauriculodentodigital syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050331"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "LADD syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050332 obo:IAO_0000115 "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts."^^xsd:string ; oboInOwl:hasDbXref "GARD:8651"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050332"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "enlarged vestibular aqueduct"^^xsd:string ; rdfs:subClassOf obo:DOID_3426 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3426 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002279 ] ) ] . obo:DOID_0050333 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050333"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital anosmia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0050334 oboInOwl:hasExactSynonym "PHENYLTHIOCARBAMIDE TASTING, INCLUDED"@en, "PROPYLTHIOURACIL TASTING, INCLUDED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050334"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thiourea tasting"^^xsd:string ; owl:deprecated true . obo:DOID_0050335 obo:IAO_0000115 "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:12299"^^xsd:string, "MESH:C564243"^^xsd:string, "OMIM:608415"^^xsd:string, "ORDO:75374"^^xsd:string, "SNOMEDCT_US_2021_03_01:711163009"^^xsd:string, "UMLS_CUI:C1842073"^^xsd:string ; oboInOwl:hasExactSynonym "prolonged electroretinal response suppression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050335"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bradyopsia"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_0050336 obo:IAO_0000115 "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017674"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050336"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2485 . obo:DOID_0050337 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050337"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Burkholderia cepacia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050338 obo:IAO_0000115 "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050338"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "primary bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0050339 obo:IAO_0000115 "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050339"^^xsd:string ; a owl:Class ; rdfs:label "commensal bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0050340 obo:IAO_0000115 "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050340"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "opportunistic bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_104 . obo:DOID_0050341 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050341"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Actinomycetales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050342 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050342"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Actinomycetales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050343 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050343"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Gardnerella vaginalis vaginosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050344 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050344"^^xsd:string ; a owl:Class ; rdfs:label "obsolete commensal Bifidobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050345 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050345"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Thermomonosporaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050346 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050346"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Corynebacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050347 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050347"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Mycobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050348 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050348"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Streptomycetaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050349 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050349"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Nocardiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050350 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050350"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Clostridiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050351 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050351"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Clostridium infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050352 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050352"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "foodborne botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000258 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000414 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000493 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000704 ] . obo:DOID_0050353 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050353"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "wound botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_0050354 obo:IAO_0000115 "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050354"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "infant botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_11976, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_0050355 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050355"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Burkholderiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050357 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050357"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Burkholderia cenocepacia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050358 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050358"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Chlamydiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050359 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050359"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bilophila wadsworthia necrotizing fasciitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050360 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050360"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Enterobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050361 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050361"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Enterobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050362 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050362"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Elizabethkingia meningoseptica infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050363 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050363"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Capnocytophaga canimorsus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050364 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050364"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Flavobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050365 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050365"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chryseobacterium indologenes infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050366 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050366"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Empedobacter brevis endophthalmitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050367 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050367"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Myroides odoratus necrotizing fasciitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050368 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050368"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Fusobacteriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050369 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050369"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Mycoplasmataceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050370 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050370"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Neisseriaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050371 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050371"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Pasteurellaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050372 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050372"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Haemophilus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050373 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050373"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Leptospiraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050374 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050374"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Spirochaetaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050375 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050375"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Spirillaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050376 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050376"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete anaplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050377 oboInOwl:hasAlternativeId "DOID:0050356"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050377"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Burkholderia cepacia complex infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050378 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050378"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete opportunistic Campylobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050379 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050379"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Campylobacter fetus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050380 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050380"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Campylobacter coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050381 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050381"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis epididymitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050382 obo:IAO_0000115 "A tularemia that results_in swelling of regional lymph glands."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050382"^^xsd:string ; a owl:Class ; rdfs:label "glandular tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123 . obo:DOID_0050383 obo:IAO_0000115 "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050383"^^xsd:string ; a owl:Class ; rdfs:label "typhoidal tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050384 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050384"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Helicobacteraceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050385 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050385"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Helicobacter infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050386 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050386"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Acinetobacter baumannii pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050387 obo:IAO_0000115 "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences."^^xsd:string ; oboInOwl:hasDbXref "OMIM:144700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050387"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nonpapillary renal cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4455 . obo:DOID_0050388 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050388"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bacteroides fragilis peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050389 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050389"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Capnocytophaga canimorsus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050390 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050390"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Capnocytophaga canimorsus endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_0050391 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050391"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Elizabethkingia meningoseptica meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050392 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050392"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal necrotizing fasciitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050393 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050393"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chryseobacterium indologenes pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050394 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050394"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nocardial pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0050395 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050395"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nocardial cellulitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050396 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050396"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nocardial keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050397 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050397"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cerebral Bilophila wadsworthia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050398 obo:IAO_0000115 "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed."^^xsd:string ; oboInOwl:hasExactSynonym "Carrion disease"@en, "Oroya fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050398"^^xsd:string ; a owl:Class ; rdfs:label "Carrion's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11102, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_774 ] . obo:DOID_0050399 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050399"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bordetella pertussis whooping cough"^^xsd:string ; owl:deprecated true . obo:DOID_0050400 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050400"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas urinary tract infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050401 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050401"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_0050402 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050402"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050403 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050403"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Mycoplasmatales infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050404 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050404"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Mycoplasmataceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050405 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050405"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Mycoplasma genitalium urethritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050406 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050406"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050407 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050407"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Mycoplasma infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050408 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050408"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus ecthyma"^^xsd:string ; owl:deprecated true . obo:DOID_0050409 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050409"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus pyogenes ecthyma"^^xsd:string ; owl:deprecated true . obo:DOID_0050410 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050410"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal erysipelas"^^xsd:string ; owl:deprecated true . obo:DOID_0050411 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050411"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus erysipelas"^^xsd:string ; owl:deprecated true . obo:DOID_0050412 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050412"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus impetigo"^^xsd:string ; owl:deprecated true . obo:DOID_0050413 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050413"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus impetigo"^^xsd:string ; owl:deprecated true . obo:DOID_0050414 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050414"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus lymphangitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050415 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050415"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus lymphangitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050416 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050416"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus agalactiae meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050417 oboInOwl:hasExactSynonym "Streptococcus dysgalactiae subsp. equisimilis meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050417"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus equisimilis meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050418 oboInOwl:hasExactSynonym "Streptococcus equi subsp. zooepidemicus meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050418"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Streptococcus zooepidemicus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050419 obo:IAO_0000115 "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency."^^xsd:string ; oboInOwl:hasDbXref "MESH:C572568"^^xsd:string, "OMIM:610984"^^xsd:string ; oboInOwl:hasExactSynonym "C3 INACTIVATOR DEFICIENCY"@en, "COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050419"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "complement factor I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0050420 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050420"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Streptococcaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050421 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050421"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary streptococcal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050422 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050422"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia pseudotuberculosis gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050423 oboInOwl:hasExactSynonym "enteroaggregative E.coli infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050423"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enteroaggregative Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050424 obo:IAO_0000115 "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer."^^xsd:string ; oboInOwl:hasDbXref "GARD:6408"^^xsd:string, "MESH:D011125"^^xsd:string, "NCI:C3339"^^xsd:string, "OMIM:PS175100"^^xsd:string, "ORDO:733"^^xsd:string, "SNOMEDCT_US_2021_03_01:72900001"^^xsd:string, "UMLS_CUI:C0032580"^^xsd:string ; oboInOwl:hasExactSynonym "adenomatous polyposis of the colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050424"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial adenomatous polyposis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0050425 obo:IAO_0000115 "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004270"^^xsd:string, "GARD:11926"^^xsd:string, "ICD10CM:G25.81"^^xsd:string, "ICD9CM:333.94"^^xsd:string, "MESH:D012148"^^xsd:string, "NCI:C84501"^^xsd:string, "OMIM:PS102300"^^xsd:string, "SNOMEDCT_US_2021_03_01:32914008"^^xsd:string, "UMLS_CUI:C0035258"^^xsd:string ; oboInOwl:hasExactSynonym "WED"@en, "Willis-Ekbom disease"@en, "Wittmaack-Ekbom syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050425"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "restless legs syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_0050426 obo:IAO_0000115 "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004276"^^xsd:string, "GARD:7700"^^xsd:string, "ICD10CM:L51.1"^^xsd:string, "ICD9CM:695.13"^^xsd:string, "MESH:D013262"^^xsd:string, "NCI:C79484"^^xsd:string, "SNOMEDCT_US_2021_03_01:73442001"^^xsd:string, "UMLS_CUI:C0038325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050426"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Stevens-Johnson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 ; skos:exactMatch "MESH:D013262"^^xsd:string . obo:DOID_0050427 obo:IAO_0000115 "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair."^^xsd:string ; oboInOwl:hasDbXref "GARD:7910"^^xsd:string, "ICD10CM:Q82.1"^^xsd:string, "MESH:D014983"^^xsd:string, "NCI:C3452"^^xsd:string, "ORDO:910"^^xsd:string, "SNOMEDCT_US_2021_03_01:44600005"^^xsd:string, "UMLS_CUI:C0043346"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050427"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "xeroderma pigmentosum"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050428 obo:IAO_0000115 "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles."^^xsd:string ; oboInOwl:hasDbXref "MESH:D015776"^^xsd:string, "NCI:C3147"^^xsd:string, "OMIM:600962"^^xsd:string, "OMIM:613000"^^xsd:string, "OMIM:615735"^^xsd:string, "ORDO:2337"^^xsd:string, "SNOMEDCT_US_2021_03_01:81206005"^^xsd:string, "UMLS_CUI:C0022584"^^xsd:string, "UMLS_CUI:C3489771"^^xsd:string ; oboInOwl:hasExactSynonym "Thost-Unna Syndrome"@en, "Unna-Thost Syndrome"@en, "diffuse nonepidermolytic palmomplantar keratoderma"@en, "tylosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050428"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "nonepidermolytic palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0050429 obo:IAO_0000115 "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:6559"^^xsd:string, "ICD10CM:Q82.8"^^xsd:string, "MESH:D016506"^^xsd:string, "NCI:C82865"^^xsd:string, "OMIM:169600"^^xsd:string, "SNOMEDCT_US_2021_03_01:79468000"^^xsd:string, "UMLS_CUI:C0085106"^^xsd:string ; oboInOwl:hasExactSynonym "BENIGN CHRONIC PEMPHIGUS"@en, "Pemphigus, Benign Familial"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050429"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Hailey-Hailey disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9182, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050430 obo:IAO_0000115 "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E31.22"^^xsd:string, "ICD9CM:258.02"^^xsd:string, "MESH:D018813"^^xsd:string, "NCI:C3226"^^xsd:string, "OMIM:171400"^^xsd:string, "ORDO:247698"^^xsd:string, "SNOMEDCT_US_2021_03_01:721188000"^^xsd:string, "UMLS_CUI:C0025268"^^xsd:string ; oboInOwl:hasExactSynonym "MEN2A"@en, "Sipple syndrome"@en, "multiple endocrine neoplasia II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050430"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple endocrine neoplasia type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050431 obo:IAO_0000115 "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019571"^^xsd:string, "NCI:C84571"^^xsd:string, "OMIM:PS107970"^^xsd:string, "ORDO:217656"^^xsd:string, "ORDO:247"^^xsd:string, "SNOMEDCT_US_2021_03_01:281170005"^^xsd:string, "UMLS_CUI:C0349788"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC"@en, "ARVC cardiomyopathy"@en, "ARVD"@en, "arrhythmogenic right ventricular dysplasia"@en, "arrhythmogenic right ventricular dysplasia/cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050431"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "arrhythmogenic right ventricular cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_0050432 obo:IAO_0000115 "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development."^^xsd:string ; oboInOwl:hasDbXref "GARD:5855"^^xsd:string, "ICD10CM:F84.5"^^xsd:string, "MESH:D020817"^^xsd:string, "NCI:C97159"^^xsd:string, "OMIM:608631"^^xsd:string, "OMIM:608638"^^xsd:string, "OMIM:608781"^^xsd:string, "OMIM:609954"^^xsd:string, "ORDO:1162"^^xsd:string, "SNOMEDCT_US_2021_03_01:154879004"^^xsd:string, "UMLS_CUI:C0236792"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050432"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Asperger syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060041 . obo:DOID_0050433 obo:IAO_0000115 "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:6429"^^xsd:string, "ICD10CM:A81.83"^^xsd:string, "ICD9CM:046.72"^^xsd:string, "MESH:D034062"^^xsd:string, "NCI:C84711"^^xsd:string, "OMIM:600072"^^xsd:string, "SNOMEDCT_US_2021_03_01:83157008"^^xsd:string, "UMLS_CUI:C0206042"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050433"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fatal familial insomnia"^^xsd:string ; rdfs:subClassOf obo:DOID_649, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_0050434 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly."^^xsd:string ; oboInOwl:hasDbXref "GARD:9453"^^xsd:string, "MESH:D050030"^^xsd:string, "NCI:C84559"^^xsd:string, "OMIM:170390"^^xsd:string, "ORDO:37553"^^xsd:string, "SNOMEDCT_US_2021_03_01:422348008"^^xsd:string, "UMLS_CUI:C1563715"^^xsd:string ; oboInOwl:hasExactSynonym "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS"@en, "Andersen syndrome"@en, "LQT7"@en, "Long QT syndrome 7"@en, "Potassium-Sensitive Cardiodysrhythmic Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050434"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Andersen-Tawil syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000287 ] . obo:DOID_0050436 obo:IAO_0000115 "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:95"^^xsd:string, "MESH:D050336"^^xsd:string, "NCI:C84906"^^xsd:string, "OMIM:253250"^^xsd:string, "ORDO:2576"^^xsd:string, "SNOMEDCT_US_2021_03_01:81604003"^^xsd:string, "UMLS_CUI:C0524582"^^xsd:string ; oboInOwl:hasExactSynonym "MUL"@en, "Mulibrey growth disorder"@en, "Muscle-Liver-Brain-Eye Nanism"@en, "PERICARDIAL CONSTRICTION AND GROWTH FAILURE"@en, "Perheentupa Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050436"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mulibrey nanism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050437 obo:IAO_0000115 "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:9730"^^xsd:string, "MESH:D052120"^^xsd:string, "NCI:C84735"^^xsd:string, "OMIM:300257"^^xsd:string, "SNOMEDCT_US_2021_03_01:419097006"^^xsd:string, "UMLS_CUI:C0878677"^^xsd:string ; oboInOwl:hasExactSynonym "ANTOPOL DISEASE"@en, "PSEUDOGLYCOGENOSIS II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050437"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Danon disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_3211, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0050438 obo:IAO_0000115 "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:2375"^^xsd:string, "MESH:D052159"^^xsd:string, "NCI:C122805"^^xsd:string, "OMIM:136680"^^xsd:string, "SNOMEDCT_US_2021_03_01:445431000"^^xsd:string, "UMLS_CUI:C0950122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050438"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Frasier syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050439 obo:IAO_0000115 "A syndrome characterized by a combination of hearing loss and visual impairment."^^xsd:string ; oboInOwl:hasDbXref "GARD:7843"^^xsd:string, "MESH:D052245"^^xsd:string, "NCI:C85217"^^xsd:string, "OMIM:PS276900"^^xsd:string, "ORDO:886"^^xsd:string, "SNOMEDCT_US_2021_03_01:57838006"^^xsd:string, "UMLS_CUI:C0271097"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050439"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "Usher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050440 obo:IAO_0000115 "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life."^^xsd:string ; oboInOwl:hasDbXref "GARD:11962"^^xsd:string, "MESH:D052496"^^xsd:string, "NCI:C165527"^^xsd:string, "NCI:C84708"^^xsd:string, "OMIM:PS151660"^^xsd:string, "ORDO:98306"^^xsd:string, "SNOMEDCT_US_2021_03_01:49292002"^^xsd:string, "SNOMEDCT_US_2021_03_01:715439000"^^xsd:string, "SNOMEDCT_US_2021_03_01:725035001"^^xsd:string, "UMLS_CUI:C0271694"^^xsd:string, "UMLS_CUI:C1720859"^^xsd:string, "UMLS_CUI:C1720860"^^xsd:string, "UMLS_CUI:C1720861"^^xsd:string ; oboInOwl:hasExactSynonym "Dunnigan Syndrome"@en, "Koberling-Dunnigan Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050440"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "familial partial lipodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080299 . obo:DOID_0050441 obo:IAO_0000115 "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.26"^^xsd:string, "MESH:D052517"^^xsd:string, "NCI:C84908"^^xsd:string, "OMIM:272200"^^xsd:string, "SNOMEDCT_US_2021_03_01:254076009"^^xsd:string, "SNOMEDCT_US_2021_03_01:54898003"^^xsd:string, "UMLS_CUI:C0268263"^^xsd:string, "UMLS_CUI:C1720864"^^xsd:string ; oboInOwl:hasExactSynonym "Sulfatidosis, Juvenile, Austin Type"@en, "multiple sulfatase deficiency disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050441"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucosulfatidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1927, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050444 obo:IAO_0000115 "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.1"^^xsd:string, "MESH:D052919"^^xsd:string, "NCI:C84789"^^xsd:string, "OMIM:266510"^^xsd:string, "SNOMEDCT_US_2021_03_01:238062008"^^xsd:string, "UMLS_CUI:C0282527"^^xsd:string ; oboInOwl:hasExactSynonym "infantile phytanic acid storage disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050444"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "infantile Refsum disease"^^xsd:string ; rdfs:subClassOf obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0050445 obo:IAO_0000115 "A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization."^^xsd:string ; oboInOwl:hasDbXref "MESH:D053098"^^xsd:string, "NCI:C85234"^^xsd:string, "OMIM:307800"^^xsd:string, "UMLS_CUI:C0733682"^^xsd:string, "UMLS_CUI:C1845168"^^xsd:string, "UMLS_CUI:C3540852"^^xsd:string ; oboInOwl:hasExactSynonym "Hypophosphatemia, Vitamin D-Resistant Rickets"@en, "Vitamin D-Resistant Rickets, X-Linked"@en, "X-linked hypophosphatemia"@en, "hypophosphatemic rickets X-linked dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050445"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked dominant hypophosphatemic rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0050448 obo:IAO_0000115 "A skin disease characterized by a defect in the normal process of keratinization of the mucosa."^^xsd:string ; oboInOwl:hasDbXref "MESH:D053529"^^xsd:string, "NCI:C84760"^^xsd:string, "OMIM:193900"^^xsd:string, "OMIM:615785"^^xsd:string, "ORDO:171723"^^xsd:string, "SNOMEDCT_US_2021_03_01:85388002"^^xsd:string, "UMLS_CUI:C1721005"^^xsd:string ; oboInOwl:hasExactSynonym "white sponge nevus"@en, "white sponge nevus of Cannon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050448"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary mucosal leukokeratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0050449 obo:IAO_0000115 "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin."^^xsd:string ; oboInOwl:hasDbXref "GARD:10753"^^xsd:string, "MESH:D053549"^^xsd:string, "NCI:C84986"^^xsd:string, "OMIM:PS167200"^^xsd:string, "ORDO:2309"^^xsd:string, "SNOMEDCT_US_2021_03_01:39427000"^^xsd:string, "UMLS_CUI:C0265334"^^xsd:string, "UMLS_CUI:C1706595"^^xsd:string, "UMLS_CUI:C1721007"^^xsd:string ; oboInOwl:hasExactSynonym "Jackson-Lawler Type Pachyonychia Congenita"@en, "Jadassohn-Lewandowsky Syndrome"@en, "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE"@en, "Pachyonychia Congenita Type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050449"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pachyonychia congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050450 obo:IAO_0000115 "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting)."^^xsd:string ; oboInOwl:hasDbXref "GARD:8547"^^xsd:string, "MESH:D053579"^^xsd:string, "NCI:C84730"^^xsd:string, "OMIM:263800"^^xsd:string, "SNOMEDCT_US_2021_03_01:3188003"^^xsd:string, "UMLS_CUI:C0268450"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050450"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gitelman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050451 obo:IAO_0000115 "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death."^^xsd:string ; oboInOwl:hasDbXref "GARD:1030"^^xsd:string, "ICD10CM:I49.8"^^xsd:string, "MESH:D053840"^^xsd:string, "NCI:C142891"^^xsd:string, "OMIM:PS601144"^^xsd:string, "ORDO:130"^^xsd:string, "SNOMEDCT_US_2021_03_01:418818005"^^xsd:string, "UMLS_CUI:C1142166"^^xsd:string, "UMLS_CUI:C1721096"^^xsd:string ; oboInOwl:hasExactSynonym "Bangungut"@en, "Brugada type idiopathic ventricular fibrillation"@en, "Dream disease"@en, "Pokkuri death syndrome"@en, "SUNDS"@en, "sudden unexplained nocturnal death syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050451"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brugada syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050452 obo:IAO_0000115 "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis."^^xsd:string ; oboInOwl:hasDbXref "GARD:3588"^^xsd:string, "ICD10CM:M04.1"^^xsd:string, "MESH:D054078"^^xsd:string, "NCI:C84890"^^xsd:string, "OMIM:610377"^^xsd:string, "ORDO:29"^^xsd:string, "SNOMEDCT_US_2021_03_01:124327008"^^xsd:string, "SNOMEDCT_US_2021_03_01:234538002"^^xsd:string, "UMLS_CUI:C0342731"^^xsd:string, "UMLS_CUI:C0398691"^^xsd:string, "UMLS_CUI:C1959626"^^xsd:string ; oboInOwl:hasExactSynonym "Mevalonate Kinase Deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050452"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mevalonic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050453 obo:IAO_0000115 "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation."^^xsd:string ; oboInOwl:hasDbXref "GARD:12291"^^xsd:string, "ICD10CM:Q04.3"^^xsd:string, "MESH:D054082"^^xsd:string, "NCI:C103921"^^xsd:string, "OMIM:PS607432"^^xsd:string, "ORDO:102009"^^xsd:string, "SNOMEDCT_US_2021_03_01:204036008"^^xsd:string, "SNOMEDCT_US_2021_03_01:23024003"^^xsd:string, "UMLS_CUI:C0266463"^^xsd:string, "UMLS_CUI:C0266483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050453"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "lissencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_2490, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000956 ] . obo:DOID_0050454 obo:IAO_0000115 "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054091"^^xsd:string, "OMIM:300049"^^xsd:string, "OMIM:608097"^^xsd:string, "OMIM:608098"^^xsd:string, "OMIM:612881"^^xsd:string, "OMIM:615544"^^xsd:string, "ORDO:98892"^^xsd:string, "SNOMEDCT_US_2021_03_01:448227009"^^xsd:string, "SNOMEDCT_US_2021_03_01:816068000"^^xsd:string, "UMLS_CUI:C1848213"^^xsd:string, "UMLS_CUI:C1868720"^^xsd:string ; oboInOwl:hasExactSynonym "periventricular heterotopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050454"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "periventricular nodular heterotopia"^^xsd:string ; rdfs:subClassOf obo:DOID_2490 . obo:DOID_0050455 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050455"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arachnodactyly"^^xsd:string ; owl:deprecated true . obo:DOID_0050456 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:9520"^^xsd:string, "ICD10CM:A31.1"^^xsd:string, "MESH:D054312"^^xsd:string, "NCI:C84604"^^xsd:string, "SNOMEDCT_US_2021_03_01:186343005"^^xsd:string, "UMLS_CUI:C0085568"^^xsd:string ; oboInOwl:hasExactSynonym "Bairnsdale ulcer"@en, "Daintree ulcer"@en, "Mossman ulcer"@en, "Searl ulcer"@en, "Searle's ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050456"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Buruli ulcer disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1809 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000005 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0050457 obo:IAO_0000115 "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development."^^xsd:string ; oboInOwl:hasDbXref "GARD:8406"^^xsd:string, "MESH:D054331"^^xsd:string, "NCI:C168988"^^xsd:string, "SNOMEDCT_US_2021_03_01:73465006"^^xsd:string, "UMLS_CUI:C1384583"^^xsd:string ; oboInOwl:hasExactSynonym "DEL CASTILLO SYNDROME"@en, "Germinal Cell Aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050457"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Sertoli cell-only syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_0050458 obo:IAO_0000115 "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."^^xsd:string ; oboInOwl:hasDbXref "GARD:9884"^^xsd:string, "ICD10CM:C93.3"^^xsd:string, "MESH:D054429"^^xsd:string, "NCI:C9233"^^xsd:string, "OMIM:607785"^^xsd:string, "SNOMEDCT_US_2021_03_01:445227008"^^xsd:string, "UMLS_CUI:C0349639"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050458"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "juvenile myelomonocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4972, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0050459 obo:IAO_0000115 "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054559"^^xsd:string, "NCI:C113750"^^xsd:string, "SNOMEDCT_US_2021_03_01:20165001"^^xsd:string, "UMLS_CUI:C0085681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperphosphatemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2485 . obo:DOID_0050460 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6684"^^xsd:string ; oboInOwl:hasDbXref "GARD:7896"^^xsd:string, "ICD10CM:Q93.3"^^xsd:string, "MESH:D054877"^^xsd:string, "NCI:C35528"^^xsd:string, "OMIM:194190"^^xsd:string, "ORDO:280"^^xsd:string, "SNOMEDCT_US_2021_03_01:17122004"^^xsd:string, "UMLS_CUI:C0796117"^^xsd:string, "UMLS_CUI:C1956097"^^xsd:string ; oboInOwl:hasExactSynonym "4p deletion syndrome"@en, "PITT SYNDROME"@en, "Pitt-Rogers-Danks Syndrome"@en, "chromosome 4p16.3 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050460"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Wolf-Hirschhorn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0050461 obo:IAO_0000115 "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins."^^xsd:string ; oboInOwl:hasDbXref "GARD:5854"^^xsd:string, "ICD10CM:E77.1"^^xsd:string, "MESH:D054880"^^xsd:string, "NCI:C61273"^^xsd:string, "OMIM:208400"^^xsd:string, "SNOMEDCT_US_2021_03_01:54954004"^^xsd:string, "UMLS_CUI:C0268225"^^xsd:string ; oboInOwl:hasExactSynonym "aspartylglucosaminidase deficiency"@en, "aspartylglycosaminuria"@en, "glycosylasparaginase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050461"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "aspartylglucosaminuria"^^xsd:string ; rdfs:subClassOf obo:DOID_3211, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] ; skos:exactMatch "MESH:D054880"^^xsd:string . obo:DOID_0050462 obo:IAO_0000115 "A craniosynostosis that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201750"^^xsd:string, "OMIM:207410"^^xsd:string, "SNOMEDCT_US_2020_03_01:62964007"^^xsd:string ; oboInOwl:hasExactSynonym "trapezoidocephaly-synostosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050462"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Antley-Bixler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, obo:DOID_2340, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] ; skos:exactMatch "MESH:D054882"^^xsd:string . obo:DOID_0050463 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."^^xsd:string ; oboInOwl:hasDbXref "GARD:10027"^^xsd:string, "MESH:D055036"^^xsd:string, "NCI:C120205"^^xsd:string, "NCI:C84609"^^xsd:string, "OMIM:114290"^^xsd:string, "ORDO:140"^^xsd:string, "SNOMEDCT_US_2021_03_01:74928006"^^xsd:string, "UMLS_CUI:C1861922"^^xsd:string, "UMLS_CUI:C1861923"^^xsd:string ; oboInOwl:hasExactSynonym "Acampomelic Campomelic Dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050463"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "campomelic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050464 obo:IAO_0000115 "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition."^^xsd:string ; oboInOwl:hasDbXref "GARD:6426"^^xsd:string, "MESH:D055577"^^xsd:string, "NCI:C84710"^^xsd:string, "OMIM:228000"^^xsd:string, "SNOMEDCT_US_2021_03_01:79935000"^^xsd:string, "UMLS_CUI:C0268255"^^xsd:string ; oboInOwl:hasExactSynonym "Farber disease"@en, "N-laurylsphingosine deacylase deficiency"@en, "acid ceramidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050464"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Farber lipogranulomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0050465 obo:IAO_0000115 "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:6821"^^xsd:string, "MESH:D055653"^^xsd:string, "NCI:C84905"^^xsd:string, "OMIM:158320"^^xsd:string, "SNOMEDCT_US_2021_03_01:403824007"^^xsd:string, "UMLS_CUI:C1321489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050465"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Muir-Torre syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0050466 obo:IAO_0000115 "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects."^^xsd:string ; oboInOwl:hasDbXref "GARD:10788"^^xsd:string, "MESH:D055947"^^xsd:string, "NCI:C75006"^^xsd:string, "ORDO:60030"^^xsd:string, "SNOMEDCT_US_2021_03_01:446263001"^^xsd:string, "UMLS_CUI:C1836635"^^xsd:string, "UMLS_CUI:C2697932"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050466"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Loeys-Dietz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050467 obo:IAO_0000115 "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056266"^^xsd:string, "NCI:C84696"^^xsd:string, "OMIM:PS133200"^^xsd:string, "ORDO:317"^^xsd:string, "SNOMEDCT_US_2021_03_01:70041004"^^xsd:string, "UMLS_CUI:C0265961"^^xsd:string, "UMLS_CUI:C1851480"^^xsd:string ; oboInOwl:hasExactSynonym "Erythrokeratodermia Figurata Variabilis"@en, "Greither Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050467"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "erythrokeratodermia variabilis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] ; skos:exactMatch "MESH:D056266"^^xsd:string . obo:DOID_0050468 obo:IAO_0000115 "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached."^^xsd:string ; oboInOwl:hasDbXref "GARD:184"^^xsd:string, "ICD10CM:L60.5"^^xsd:string, "MESH:D056684"^^xsd:string, "NCI:C85238"^^xsd:string, "OMIM:153300"^^xsd:string, "SNOMEDCT_US_2021_03_01:400211001"^^xsd:string, "UMLS_CUI:C0221348"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050468"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "yellow nail syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, obo:DOID_37, obo:DOID_4123, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001705 ] ) ] . obo:DOID_0050469 obo:IAO_0000115 "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays."^^xsd:string ; oboInOwl:hasDbXref "GARD:1550"^^xsd:string, "MESH:D056685"^^xsd:string, "NCI:C84652"^^xsd:string, "OMIM:218040"^^xsd:string, "SNOMEDCT_US_2021_03_01:205803001"^^xsd:string, "UMLS_CUI:C0587248"^^xsd:string ; oboInOwl:hasExactSynonym "FCS SYNDROME"@en, "Faciocutaneoskeletal Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050469"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Costello syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080690, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050470 obo:IAO_0000115 "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056731"^^xsd:string, "NCI:C131000"^^xsd:string, "NCI:C84676"^^xsd:string, "OMIM:246200"^^xsd:string, "ORDO:508"^^xsd:string, "SNOMEDCT_US_2021_03_01:111307005"^^xsd:string, "SNOMEDCT_US_2021_03_01:33559001"^^xsd:string, "UMLS_CUI:C0265344"^^xsd:string, "UMLS_CUI:C0271695"^^xsd:string ; oboInOwl:hasExactSynonym "Leprechaunism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050470"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Donohue syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050471 obo:IAO_0000115 "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity."^^xsd:string ; oboInOwl:hasDbXref "GARD:1119"^^xsd:string, "MESH:D056733"^^xsd:string, "NCI:C4705"^^xsd:string, "OMIM:160980"^^xsd:string, "OMIM:605244"^^xsd:string, "OMIM:608837"^^xsd:string, "ORDO:1359"^^xsd:string, "SNOMEDCT_US_2021_03_01:733491005"^^xsd:string, "UMLS_CUI:C0406810"^^xsd:string, "UMLS_CUI:C1854540"^^xsd:string, "UMLS_CUI:C2607929"^^xsd:string ; oboInOwl:hasExactSynonym "Carney Complex, Type 1"@en, "Carney Complex, Type 2"@en, "Carney Syndrome"@en, "Carney complex variant"@en, "LAMB Syndrome"@en, "NAME Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050471"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Carney complex"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050472 obo:IAO_0000115 "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins."^^xsd:string ; oboInOwl:hasDbXref "GARD:93"^^xsd:string, "ICD10CM:Q84.1"^^xsd:string, "MESH:D056734"^^xsd:string, "NCI:C84894"^^xsd:string, "OMIM:158000"^^xsd:string, "SNOMEDCT_US_2021_03_01:69488000"^^xsd:string, "UMLS_CUI:C0546966"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "monilethrix"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_421, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050473 obo:IAO_0000115 "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056769"^^xsd:string, "NCI:C84549"^^xsd:string, "OMIM:203800"^^xsd:string, "SNOMEDCT_US_2021_03_01:63702009"^^xsd:string, "UMLS_CUI:C0268425"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050473"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Alstrom syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000008 ] ; skos:exactMatch "MESH:D056769"^^xsd:string . obo:DOID_0050474 obo:IAO_0000115 "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:7182"^^xsd:string, "MESH:D056770"^^xsd:string, "NCI:C84922"^^xsd:string, "OMIM:256500"^^xsd:string, "ORDO:634"^^xsd:string, "SNOMEDCT_US_2021_03_01:312514006"^^xsd:string, "UMLS_CUI:C0265962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050474"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Netherton syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0050475 obo:IAO_0000115 "A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities."^^xsd:string ; oboInOwl:hasDbXref "GARD:4936"^^xsd:string, "MESH:D056846"^^xsd:string, "NCI:C85226"^^xsd:string, "OMIM:277600"^^xsd:string, "OMIM:608328"^^xsd:string, "OMIM:613195"^^xsd:string, "OMIM:614819"^^xsd:string, "ORDO:3449"^^xsd:string, "SNOMEDCT_US_2021_03_01:205801004"^^xsd:string, "UMLS_CUI:C0265313"^^xsd:string, "UMLS_CUI:C1869114"^^xsd:string, "UMLS_CUI:C1869115"^^xsd:string ; oboInOwl:hasExactSynonym "GEMSS syndrome"@en, "Marchesani-Weill Syndrome"@en, "Mesodermal Dysmorphodystrophy, Congenital"@en, "Spherophakia Brachymorphia Syndrome"@en, "congenital mesodermal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050475"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "Weill-Marchesani syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0050476 obo:IAO_0000115 "A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin."^^xsd:string ; oboInOwl:hasDbXref "GARD:5890"^^xsd:string, "ICD10CM:E78.71"^^xsd:string, "MESH:D056889"^^xsd:string, "NCI:C84585"^^xsd:string, "OMIM:302060"^^xsd:string, "SNOMEDCT_US_2021_03_01:297231002"^^xsd:string, "UMLS_CUI:C0574083"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconicaciduria type 2"@en, "3-methylglutaconicaciduria type II"@en, "MGA Type 2"@en, "MGA type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050476"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Barth syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ; skos:exactMatch "MESH:D056889"^^xsd:string . obo:DOID_0050477 obo:IAO_0000115 "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel."^^xsd:string ; oboInOwl:hasDbXref "GARD:7381"^^xsd:string, "MESH:D056929"^^xsd:string, "NCI:C84827"^^xsd:string, "OMIM:177200"^^xsd:string, "SNOMEDCT_US_2021_03_01:707749005"^^xsd:string, "UMLS_CUI:C0221043"^^xsd:string ; oboInOwl:hasExactSynonym "Liddle's syndrome"@en, "Pseudoaldosteronism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050477"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Liddle syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_447 . obo:DOID_0050478 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050478"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Escherichia coli infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050479 oboInOwl:hasExactSynonym "Klebsiella infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050479"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete commensal Klebsiella infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050480 obo:IAO_0000115 "A typhus that has_material_basis _in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium."^^xsd:string ; oboInOwl:hasExactSynonym "sylvatic typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050480"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "epidemic typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_782 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_121224 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050481 obo:IAO_0000115 "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050028"^^xsd:string, "DOID:0050029"^^xsd:string, "DOID:0050030"^^xsd:string, "DOID:0050057"^^xsd:string, "DOID:0050058"^^xsd:string ; oboInOwl:hasExactSynonym "Rat-Flea Typhus"@en, "Rickettsia felis spotted fever"@en, "Urban Typhus of Malaya"@en, "cat flea rickettsiosis"@en, "fleaborne typhus"@en, "murine typhus"@en, "toulon typhus"@en, "urban typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Shop typhus"@en ; oboInOwl:id "DOID:0050481"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "endemic typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_42862 obo:NCBITaxon_785 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_163159 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050482 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050482"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete lymphangitis-associated rickettsiosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050483 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050483"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rickettsia aeschlimannii spotted fever"^^xsd:string ; owl:deprecated true . obo:DOID_0050484 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia."^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia helvetica spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050484"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "aneruptive fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35789 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_6944 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_0050485 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia."^^xsd:string ; oboInOwl:hasDbXref "GARD:120"^^xsd:string ; oboInOwl:hasExactSynonym "Sennetsu ehrlichiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050485"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "sennetsu fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_951 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050486 obo:IAO_0000115 "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R21"^^xsd:string, "ICD9CM:782.1"^^xsd:string, "MESH:D005076"^^xsd:string, "NCI:C111884"^^xsd:string, "SNOMEDCT_US_2021_03_01:112625008"^^xsd:string, "UMLS_CUI:C0015230"^^xsd:string ; oboInOwl:hasExactSynonym "Rash"@en, "exanthema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exanthem"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0050487 obo:IAO_0000115 "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050487"^^xsd:string ; a owl:Class ; rdfs:label "bacterial exanthem"^^xsd:string ; rdfs:subClassOf obo:DOID_0050486, obo:DOID_104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] . obo:DOID_0050488 obo:IAO_0000115 "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050488"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "early congenital syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9856, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000018 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000051 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000465 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019173 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050489 obo:IAO_0000115 "A goiter characterized by a multinodular enlargement of the thyroid gland."^^xsd:string ; oboInOwl:hasDbXref "OMIM:138800"^^xsd:string, "OMIM:300273"^^xsd:string, "OMIM:606082"^^xsd:string, "ORDO:276399"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050489"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "multinodular goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_0050490 obo:IAO_0000115 "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050490"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "parenchymatous neurosyphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000075 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000571 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000654 ] . obo:DOID_0050491 obo:IAO_0000115 "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050491"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "meningovascular neurosyphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000571 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000719 ] . obo:DOID_0050492 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050492"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete tertiary syphilitic encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050493 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050493"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete tertiary syphilitic meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050494 obo:IAO_0000115 "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050494"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Papillomaviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050495 obo:IAO_0000115 "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.2"^^xsd:string, "ICD9CM:058.1"^^xsd:string, "MESH:D005077"^^xsd:string, "SNOMEDCT_US_2021_03_01:54385001"^^xsd:string, "UMLS_CUI:C0015231"^^xsd:string ; oboInOwl:hasExactSynonym "Roseola Infantum"@en, "Sixth Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050495"^^xsd:string ; a owl:Class ; rdfs:label "exanthema subitum"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10368 obo:NCBITaxon_10372 ) ] ] . obo:DOID_0050496 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050496"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Banna virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050497 obo:IAO_0000115 "A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050497"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Anelloviridae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050498 obo:IAO_0000115 "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA."^^xsd:string ; oboInOwl:hasExactSynonym "double stranded DNA virus infectious disease"@en, "dsDNA virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050498"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dsDNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050499 obo:IAO_0000115 "A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA."^^xsd:string ; oboInOwl:hasExactSynonym "single stranded DNA virus infectious disease"@en, "ssDNA virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050499"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ssDNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050500 obo:IAO_0000115 "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase."^^xsd:string ; oboInOwl:hasExactSynonym "double stranded DNA reverse transcribing virus infectious disease"@en, "double stranded DNA-reverse transcribing virus infection"@en, "dsDNA-RT virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050500"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dsDNA-RT virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050501 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes."^^xsd:string ; oboInOwl:hasExactSynonym "double stranded RNA virus infectious disease"@en, "dsRNA virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050501"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dsRNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050502 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes."^^xsd:string ; oboInOwl:hasExactSynonym "(+)ssRNA virus infection"@en, "Positive Stranded ssRNA Virus infectious disease"@en, "positive-sense single stranded RNA virus infectious disease"@en, "positive-sense ssRNA virus infection"@en, "positive-sense ssRNA virus infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050502"^^xsd:string ; a owl:Class ; rdfs:label "obsolete (+)ssRNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050503 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes."^^xsd:string ; oboInOwl:hasExactSynonym "(-)ssRNA virus infection"@en, "Negative Stranded ssRNA Virus infectious disease"@en, "negative-sense single stranded RNA virus infectious disease"@en, "negative-sense ssRNA virus infection"@en, "negative-sense ssRNA virus infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050503"^^xsd:string ; a owl:Class ; rdfs:label "obsolete (-)ssRNA virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050504 obo:IAO_0000115 "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase."^^xsd:string ; oboInOwl:hasExactSynonym "single stranded RNA reverse transcribing virus infectious disease"@en, "ssRNA-RT virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050504"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ssRNA-RT virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050505 obo:IAO_0000115 "A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050505"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related anal squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_0050506 obo:IAO_0000115 "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050506"^^xsd:string ; a owl:Class ; rdfs:label "obsolete human papilloma virus related vaginal squamous cell carcinoma"^^xsd:string ; owl:deprecated true . obo:DOID_0050507 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050507"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related cryptosporidiosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050508 obo:IAO_0000115 "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:050.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:266193008"^^xsd:string, "UMLS_CUI:C1812609"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050508"^^xsd:string ; a owl:Class ; rdfs:label "variola major"^^xsd:string ; rdfs:subClassOf obo:DOID_8736 . obo:DOID_0050509 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050509"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related toxoplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050510 oboInOwl:hasExactSynonym "AIDS-related isosporiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050510"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related cystoisosporiasis"^^xsd:string ; owl:deprecated true . obo:DOID_0050511 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050511"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Human torovirus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050512 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050512"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Saffold virus gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_0050513 obo:IAO_0000115 "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050513"^^xsd:string ; a owl:Class ; rdfs:label "spinal polio"^^xsd:string ; rdfs:subClassOf obo:DOID_0050515, obo:DOID_319, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_0050514 obo:IAO_0000115 "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050514"^^xsd:string ; a owl:Class ; rdfs:label "bulbospinal polio"^^xsd:string ; rdfs:subClassOf obo:DOID_0050515, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0002240 obo:UBERON_0002298 ) ] ] . obo:DOID_0050515 obo:IAO_0000115 "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050515"^^xsd:string ; a owl:Class ; rdfs:label "paralytic poliomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_4953, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] . obo:DOID_0050516 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050516"^^xsd:string ; a owl:Class ; rdfs:label "O'nyong'nyong fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_62324 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7165 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019155 ] . obo:DOID_0050517 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050517"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Barmah Forest virus disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_0050518 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash."^^xsd:string ; oboInOwl:hasExactSynonym "Ross River virus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050518"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Ross River fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11029 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_0050519 obo:IAO_0000115 "A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050519"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lymphocytic choriomeningitis virus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050520 obo:IAO_0000115 "A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050520"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lymphocytic choriomeningitis virus meningoencephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_0050521 obo:IAO_0000115 "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050521"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Oropouche fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_118655 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_41820 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_0050522 obo:IAO_0000115 "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom hemorrhagic features, has symptom proteinuria, and has symptom renal failure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050522"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Balkan hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11266, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_54292 ] . obo:DOID_0050523 obo:IAO_0000115 "A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:13103"^^xsd:string, "ICD10CM:C91.5"^^xsd:string, "MESH:D015459"^^xsd:string, "NCI:C3184"^^xsd:string, "SNOMEDCT_US_2021_03_01:77430005"^^xsd:string, "UMLS_CUI:C0023493"^^xsd:string ; oboInOwl:hasExactSynonym "Adult T-cell leukemia/lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050523"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult T-cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_715, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11908 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000013 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0050524 obo:IAO_0000115 "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects."^^xsd:string ; oboInOwl:hasDbXref "GARD:3697"^^xsd:string, "ICD10CM:E11.8"^^xsd:string, "KEGG:04950"^^xsd:string, "OMIM:606391"^^xsd:string, "ORDO:552"^^xsd:string ; oboInOwl:hasExactSynonym "MODY"@en, "Mason-type diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050524"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "maturity-onset diabetes of the young"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9351, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050525 oboInOwl:hasExactSynonym "acro-osteolysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Acroosteolysis syndrome"@en ; oboInOwl:id "DOID:0050525"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete acroosteolysis"^^xsd:string ; owl:deprecated true . obo:DOID_0050526 obo:IAO_0000115 "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs."^^xsd:string ; oboInOwl:hasDbXref "GARD:12353"^^xsd:string, "OMIM:137200"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive neuromyotonia and axonal neuropathy"@en, "myokymia, myotonia and muscle wasting"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050526"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gamstorp-Wohlfart syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050527 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050527"^^xsd:string ; a owl:Class ; rdfs:label "obsolete familial hypertriglyceridemia"^^xsd:string ; owl:deprecated true . obo:DOID_0050528 obo:IAO_0000115 "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:234050"^^xsd:string ; oboInOwl:hasExactSynonym "AMISH BRITTLE HAIR BRAIN SYNDROME"@en, "BIDS syndrome"@en, "HAIR-BRAIN SYNDROME"@en, "TTD4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050528"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "nonphotosensitive trichothiodystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050529 obo:IAO_0000115 "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.1"^^xsd:string, "MESH:C563948"^^xsd:string, "OMIM:271150"^^xsd:string, "ORDO:83420"^^xsd:string, "UMLS_CUI:C1838230"^^xsd:string ; oboInOwl:hasExactSynonym "SMA4"@en, "SPINAL MUSCULAR ATROPHY, ADULT FORM"@en, "SPINAL MUSCULAR ATROPHY, TYPE IV"@en, "spinal muscular atrophy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050529"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "adult spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0050530 obo:IAO_0000115 "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014897"^^xsd:string, "NCI:C156310"^^xsd:string, "OMIM:253550"^^xsd:string, "SNOMEDCT_US_2021_03_01:128212001"^^xsd:string, "UMLS_CUI:C0393538"^^xsd:string ; oboInOwl:hasExactSynonym "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM"@en, "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE"@en, "SMA II"@en, "SMA2"@en, "spinal muscular atrophy 2"@en, "spinal muscular atrophy type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050530"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "intermediate spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060160, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050531 oboInOwl:hasExactSynonym "LENTIGINOSIS, DIFFUSE"@en, "LENTIGINOSIS, GENERALIZED"@en, "LENTIGINOSIS, INHERITED PATTERNED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050531"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete lentiginosis profusa"^^xsd:string ; owl:deprecated true . obo:DOID_0050532 oboInOwl:hasExactSynonym "NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC"@en, "PIGMENTED MOLES"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050532"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete epidermal nevus"^^xsd:string ; owl:deprecated true . obo:DOID_0050533 oboInOwl:hasExactSynonym "IRRITABLE HEART"@en, "MITRAL VALVE PROLAPSE SYNDROME"@en, "NEUROCIRCULATORY ASTHENIA"@en, "ORTHOSTATIC INTOLERANCE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050533"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete soldiers heart"^^xsd:string ; owl:deprecated true . obo:DOID_0050534 obo:IAO_0000115 "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.63"^^xsd:string, "ICD9CM:368.61"^^xsd:string, "MESH:C537743"^^xsd:string, "OMIM:PS310500"^^xsd:string, "ORDO:215"^^xsd:string, "SNOMEDCT_US_2021_03_01:193687000"^^xsd:string, "UMLS_CUI:C1306122"^^xsd:string ; oboInOwl:hasExactSynonym "congenital essential nyctalopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050534"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital stationary night blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_8498, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050535 obo:IAO_0000115 "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina."^^xsd:string ; oboInOwl:hasDbXref "GARD:1613"^^xsd:string, "ICD10CM:H35.00"^^xsd:string, "ICD9CM:362.10"^^xsd:string, "OMIM:PS133780"^^xsd:string, "ORDO:891"^^xsd:string, "SNOMEDCT_US_2021_03_01:193355009"^^xsd:string, "UMLS_CUI:C0004608"^^xsd:string ; oboInOwl:hasExactSynonym "FEVR"@en, "familial exudative vitreoretinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050535"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "exudative vitreoretinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2462, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_0050536 obo:IAO_0000115 "A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene."^^xsd:string ; oboInOwl:hasExactSynonym "Hypomelia Hypotrichosis Facial hemangioma syndrome"@en, "SC PSEUDOTHALIDOMIDE SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050536"^^xsd:string ; a owl:Class ; rdfs:comment "GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS]"^^xsd:string ; rdfs:label "obsolete SC phocomelia syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050537 obo:IAO_0000115 "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule."^^xsd:string ; oboInOwl:hasExactSynonym "CATARACT, POSTERIOR POLAR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050537"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "posterior polar cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0050538 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons."^^xsd:string ; oboInOwl:hasDbXref "GARD:12433"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050538"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050539 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."^^xsd:string ; oboInOwl:hasDbXref "GARD:12431"^^xsd:string, "ICD9CM:356.0"^^xsd:string, "OMIM:118230"^^xsd:string, "OMIM:604484"^^xsd:string, "ORDO:64746"^^xsd:string, "SNOMEDCT_US_2021_03_01:193158000"^^xsd:string, "UMLS_CUI:C0392553"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy Guadalajara neuronal type"@en, "hereditary motor and sensory neuropathy Okinawa type"@en, "hereditary motor and sensory neuropathy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050539"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050540 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145900"^^xsd:string ; oboInOwl:hasExactSynonym "DEJERINE-SOTTAS NEUROPATHY"@en, "DEJERINE-SOTTAS SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050540"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10595, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050541 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050582"^^xsd:string ; oboInOwl:hasDbXref "GARD:12440"^^xsd:string, "ORDO:64749"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050541"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050542 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene."^^xsd:string ; oboInOwl:hasDbXref "ORDO:64747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050542"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease type X"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050543 obo:IAO_0000115 "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s."^^xsd:string ; oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease dominant intermediate"@en, "Charcot-Marie-Tooth disease recessive intermediate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050543"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Charcot-Marie-Tooth disease intermediate type"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0050544 obo:IAO_0000115 "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050544"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypermethioninemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050545 obo:IAO_0000115 "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen."^^xsd:string ; oboInOwl:hasDbXref "GARD:10875"^^xsd:string, "OMIM:306955"^^xsd:string, "OMIM:605376"^^xsd:string, "OMIM:606325"^^xsd:string, "OMIM:613751"^^xsd:string, "OMIM:614779"^^xsd:string, "ORDO:450"^^xsd:string ; oboInOwl:hasExactSynonym "heterotaxia"@en, "situs ambiguus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050545"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "visceral heterotaxy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0050546 obo:IAO_0000115 "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613743"^^xsd:string ; oboInOwl:hasExactSynonym "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE"@en, "P450scc DEFICIENCY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050546"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital adrenal insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080015, obo:DOID_9553, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050547 obo:IAO_0000115 "A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:155240"^^xsd:string ; oboInOwl:hasExactSynonym "THYROID CARCINOMA, FAMILIAL MEDULLARY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050547"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial medullary thyroid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3973 . obo:DOID_0050548 obo:IAO_0000115 "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009477"^^xsd:string, "OMIM:PS162400"^^xsd:string ; oboInOwl:hasExactSynonym "familial dysautonomia, type II"@en, "hereditary sensory and autonomic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050548"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary sensory neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_0050549 obo:IAO_0000115 "A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase."^^xsd:string ; oboInOwl:hasExactSynonym "type I short rib polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050549"^^xsd:string ; a owl:Class ; rdfs:label "Saldino-Noonan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_0050550 oboInOwl:hasExactSynonym "type II short rib-polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050550"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete Majewski syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050551 oboInOwl:hasExactSynonym "type III short rib-polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050551"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete Verma-Naumoff syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050553 obo:IAO_0000115 "A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10988"^^xsd:string, "OMIM:256040"^^xsd:string, "ORDO:324999"^^xsd:string ; oboInOwl:hasExactSynonym "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050553"^^xsd:string ; a owl:Class ; rdfs:label "JMP syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050554 obo:IAO_0000115 "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060064"^^xsd:string ; oboInOwl:hasDbXref "OMIM:301310"^^xsd:string ; oboInOwl:hasExactSynonym "Anemia sideroblastic and spinocerebellar ataxia"@en, "X-linked sideroblastic anaemia and ataxia"@en, "X-linked sideroblastic anaemia with ataxia"@en, "X-linked sideroblastic anemia and ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050554"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked sideroblastic anemia with ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050556 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050556"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infantile onset spinocerebellar ataxia"^^xsd:string ; owl:deprecated true . obo:DOID_0050557 obo:IAO_0000115 "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."^^xsd:string ; oboInOwl:hasDbXref "GARD:9138"^^xsd:string, "ICD9CM:359.0"^^xsd:string, "OMIM:254100"^^xsd:string, "ORDO:97242"^^xsd:string, "SNOMEDCT_US_2021_03_01:193221009"^^xsd:string, "UMLS_CUI:C2937300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050557"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050558 obo:IAO_0000115 "A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen."^^xsd:string ; oboInOwl:hasDbXref "GARD:4769"^^xsd:string, "OMIM:254090"^^xsd:string ; oboInOwl:hasExactSynonym "ULLRICH DISEASE"@en, "Ullrich scleroatonic muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050558"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Ullrich congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050559 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein."^^xsd:string ; oboInOwl:hasDbXref "GARD:6475"^^xsd:string, "OMIM:253800"^^xsd:string, "ORDO:272"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050559"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Fukuyama congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050560 obo:IAO_0000115 "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2599"^^xsd:string, "MESH:D058494"^^xsd:string ; oboInOwl:hasExactSynonym "HARD syndrome"@en, "cerebroocular dysplasia-muscular dystrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050560"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Walker-Warburg syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050561 obo:IAO_0000115 "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood."^^xsd:string ; oboInOwl:hasDbXref "GARD:9912"^^xsd:string, "OMIM:606369"^^xsd:string, "ORDO:2382"^^xsd:string ; oboInOwl:hasExactSynonym "Lennox syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050561"^^xsd:string ; a owl:Class ; rdfs:label "Lennox-Gastaut syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050704, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050562 obo:IAO_0000115 "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:7887"^^xsd:string, "MESH:D013036"^^xsd:string, "NCI:C84788"^^xsd:string, "ORDO:3451"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Infantile spasms syndrome"@en ; oboInOwl:id "DOID:0050562"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "West syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050703 . obo:DOID_0050563 obo:IAO_0000115 "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms."^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic hearing loss"@en, "nonsyndromic hereditary hearing loss"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050563"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_0050564 obo:IAO_0000115 "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:PS124900"^^xsd:string, "ORDO:90635"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050564"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autosomal dominant nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050565 obo:IAO_0000115 "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607197"^^xsd:string, "OMIM:PS220290"^^xsd:string, "ORDO:90636"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050565"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "autosomal recessive nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050566 obo:IAO_0000115 "A nonsyndromic deafness characterized by an X-linked inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:PS304500"^^xsd:string, "ORDO:90625"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050566"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "X-linked nonsyndromic deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050567 obo:IAO_0000115 "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS119530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050567"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "orofacial cleft"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_225, [ a owl:Class ; owl:intersectionOf (obo:DOID_0080015 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:DOID_0050567 ] ) ] ) ] . obo:DOID_0050568 obo:IAO_0000115 "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together."^^xsd:string ; oboInOwl:hasDbXref "GARD:12174"^^xsd:string, "GARD:6798"^^xsd:string, "OMIM:122600"^^xsd:string, "OMIM:277300"^^xsd:string, "OMIM:608681"^^xsd:string, "OMIM:609813"^^xsd:string, "OMIM:613686"^^xsd:string, "ORDO:1797"^^xsd:string, "ORDO:2311"^^xsd:string ; oboInOwl:hasExactSynonym "Jarcho-Levin syndrome"@en, "spondylocostal dysostosis, autosomal recessive 3"@en, "spondylothoracic dysostosis"@en, "spondylothoracic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050568"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "spondylocostal dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0050569 obo:IAO_0000115 "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:8562"^^xsd:string, "ICD10CM:Q87.1"^^xsd:string, "OMIM:PS210600"^^xsd:string, "ORDO:808"^^xsd:string ; oboInOwl:hasExactSynonym "Harper's syndrome"@en, "Virchow-Seckel dwarfism"@en, "bird-headed dwarfism"@en, "microcephalic primordial dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050569"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Seckel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050570 obo:IAO_0000115 "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS212065"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050570"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital disorder of glycosylation type I"^^xsd:string ; rdfs:subClassOf obo:DOID_5212, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050571 obo:IAO_0000115 "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS212066"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050571"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital disorder of glycosylation type II"^^xsd:string ; rdfs:subClassOf obo:DOID_5212, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050572 obo:IAO_0000115 "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:10790"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "ORDO:1872"^^xsd:string ; oboInOwl:hasExactSynonym "cone-rod retinal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050572"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "cone-rod dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_8466, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050573 obo:IAO_0000115 "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage."^^xsd:string ; oboInOwl:hasDbXref "GARD:10761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050573"^^xsd:string ; a owl:Class ; rdfs:label "2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050574 obo:IAO_0000115 "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)."^^xsd:string ; oboInOwl:hasDbXref "GARD:10472"^^xsd:string, "OMIM:236792"^^xsd:string, "ORDO:79314"^^xsd:string ; oboInOwl:hasExactSynonym "L-2-HYDROXYGLUTARIC ACIDEMIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050574"^^xsd:string ; a owl:Class ; rdfs:label "L-2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050573, obo:DOID_2786, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] . obo:DOID_0050575 obo:IAO_0000115 "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory."^^xsd:string ; oboInOwl:hasDbXref "GARD:5661"^^xsd:string, "OMIM:PS600721"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050575"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "D-2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050573, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0050576 obo:IAO_0000115 "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:322"^^xsd:string, "ICD10CM:Q61.5"^^xsd:string, "OMIM:266900"^^xsd:string, "OMIM:606995"^^xsd:string, "OMIM:606996"^^xsd:string, "OMIM:609254"^^xsd:string, "OMIM:610189"^^xsd:string, "OMIM:613615"^^xsd:string, "ORDO:3156"^^xsd:string ; oboInOwl:hasExactSynonym "Loken Senior syndrome"@en, "renal-retinal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050576"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Senior-Loken syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050577 obo:IAO_0000115 "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS218330"^^xsd:string ; oboInOwl:hasExactSynonym "Levin syndrome"@en, "Sensenbrenner syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050577"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cranioectodermal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050578 obo:IAO_0000115 "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613587"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050578"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "occult macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0050579 obo:IAO_0000115 "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613507"^^xsd:string ; oboInOwl:hasExactSynonym "glycogen storage disease type XV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050579"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease XV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2747, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050580 obo:IAO_0000115 "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system."^^xsd:string ; oboInOwl:hasDbXref "GARD:7220"^^xsd:string, "ICD9CM:757.0"^^xsd:string, "OMIM:PS153100"^^xsd:string, "ORDO:79452"^^xsd:string, "SNOMEDCT_US_2021_03_01:205542007"^^xsd:string, "UMLS_CUI:C1313885"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050580"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary lymphedema"^^xsd:string ; rdfs:subClassOf obo:DOID_4977 . obo:DOID_0050581 obo:IAO_0000115 "A dysostosis characterized by short fingers and toes."^^xsd:string ; oboInOwl:hasDbXref "GARD:11913"^^xsd:string, "ORDO:294937"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050581"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "brachydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011297 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002389 ) ] ] ; skos:exactMatch "MESH:D059327"^^xsd:string . obo:DOID_0050583 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050583"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Chlamydophila pneumoniae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050584 obo:IAO_0000115 "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050584"^^xsd:string ; a owl:Class ; rdfs:label "gummatous syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_8200 . obo:DOID_0050585 obo:IAO_0000115 "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance."^^xsd:string ; oboInOwl:hasDbXref "GARD:13388"^^xsd:string, "OMIM:PS608594"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050585"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital generalized lipodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_0080298, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050587 obo:IAO_0000115 "An impulse control disorder that involves the uncontrollable plucking of ones hair."^^xsd:string ; oboInOwl:hasDbXref "GARD:7803"^^xsd:string, "MESH:D014256"^^xsd:string, "OMIM:613229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050587"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "trichotillomania"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_0050588 obo:IAO_0000115 "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:613151"^^xsd:string, "OMIM:613152"^^xsd:string, "OMIM:613155"^^xsd:string, "OMIM:613156"^^xsd:string, "OMIM:615351"^^xsd:string, "OMIM:616094"^^xsd:string, "OMIM:PS613155"^^xsd:string, "ORDO:370953"^^xsd:string ; oboInOwl:hasExactSynonym "CMD due to dystroglycanopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050588"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "muscular dystrophy-dystroglycanopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050589 obo:IAO_0000115 "An intestinal disease characterized by inflammation located in all parts of digestive tract."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003767"^^xsd:string, "KEGG:05321"^^xsd:string, "MESH:D015212"^^xsd:string, "NCI:C3138"^^xsd:string, "OMIM:PS266600"^^xsd:string, "SNOMEDCT_US_2021_03_01:155759008"^^xsd:string, "UMLS_CUI:C0021390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050589"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "inflammatory bowel disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0050590 obo:IAO_0000115 "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections."^^xsd:string ; oboInOwl:hasDbXref "GARD:13592"^^xsd:string, "ICD10CM:D70"^^xsd:string, "OMIM:PS202700"^^xsd:string, "ORDO:42738"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050590"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "severe congenital neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1227, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050591 obo:IAO_0000115 "A tooth disease characterized by failure to develop on or more missing teeth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.0"^^xsd:string, "ICD9CM:520.0"^^xsd:string, "MESH:D000848"^^xsd:string, "NCI:C172328"^^xsd:string, "OMIM:106600"^^xsd:string, "OMIM:150400"^^xsd:string, "OMIM:313500"^^xsd:string, "OMIM:602639"^^xsd:string, "OMIM:604625"^^xsd:string, "OMIM:610926"^^xsd:string, "ORDO:2227"^^xsd:string, "ORDO:99798"^^xsd:string, "SNOMEDCT_US_2021_03_01:234951001"^^xsd:string, "UMLS_CUI:C0399352"^^xsd:string ; oboInOwl:hasExactSynonym "familial tooth agenesis"@en, "hypodontia"@en, "oligodontia"@en, "selective tooth agenesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050591"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "tooth agenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_0050592 obo:IAO_0000115 "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:PS208500"^^xsd:string, "ORDO:474"^^xsd:string ; oboInOwl:hasExactSynonym "Jeune syndrome"@en, "short-rib thoracic dysplasia with or without polydactyly"@en, "thoracic pelvic phalangeal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050592"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "asphyxiating thoracic dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 . obo:DOID_0050593 obo:IAO_0000115 "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613085"^^xsd:string, "OMIM:613086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050593"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "primary congenital glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080015, obo:DOID_1686, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050594 obo:IAO_0000115 "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050594"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IX"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_0050596 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10076"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B68.1"^^xsd:string, "ICD9CM:123.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:69163003"^^xsd:string, "UMLS_CUI:C0152073"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Beef tapeworm infection"@en, "Infection by Taeniarhynchus saginatus"@en, "Taenia saginata infectious disease"@en ; oboInOwl:id "DOID:0050596"^^xsd:string ; a owl:Class ; rdfs:label "taeniasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6204 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6206 ] . obo:DOID_0050597 obo:IAO_0000115 "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13692"^^xsd:string, "DOID:13721"^^xsd:string, "DOID:3468"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B65.1"^^xsd:string, "ICD10CM:B65.2"^^xsd:string, "ICD9CM:120.1"^^xsd:string, "ICD9CM:120.2"^^xsd:string, "MESH:D012554"^^xsd:string, "MESH:D012555"^^xsd:string, "NCI:C35001"^^xsd:string, "NCI:C35002"^^xsd:string, "NCI:C35364"^^xsd:string, "OMIM:181460"^^xsd:string, "ORDO:1247"^^xsd:string, "SNOMEDCT_US_2021_03_01:187114003"^^xsd:string, "SNOMEDCT_US_2021_03_01:52179003"^^xsd:string, "SNOMEDCT_US_2021_03_01:750009"^^xsd:string, "UMLS_CUI:C0036329"^^xsd:string, "UMLS_CUI:C0036330"^^xsd:string, "UMLS_CUI:C0276932"^^xsd:string ; oboInOwl:hasExactSynonym "Katayama fever"@en, "Schistosoma japonicum infection"@en, "Schistosoma mansoni infectious disease"@en, "schistosomiasis japonica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050597"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "intestinal schistosomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1395, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001880 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000421 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000639 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_0050598 obo:IAO_0000115 "A tuberculosis that occurs at body sites other than the lung."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050598"^^xsd:string ; a owl:Class ; rdfs:label "extrapulmonary tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_399, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004122 ] . obo:DOID_0050599 obo:IAO_0000115 "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050599"^^xsd:string ; a owl:Class ; rdfs:label "abdominal tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598 . obo:DOID_0050600 obo:IAO_0000115 "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600501"^^xsd:string ; oboInOwl:hasExactSynonym "ABCDS"@en, "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050600"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ABCD syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050601 obo:IAO_0000115 "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63."^^xsd:string ; oboInOwl:hasDbXref "GARD:384"^^xsd:string, "OMIM:103285"^^xsd:string ; oboInOwl:hasExactSynonym "acro-dermato-ungual-lacrimal-tooth syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050601"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ADULT syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050602 obo:IAO_0000115 "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:457"^^xsd:string, "OMIM:231550"^^xsd:string ; oboInOwl:hasExactSynonym "AAAS"@en, "Achalasia-Addisonianism-Alacrimia syndrome"@en, "Allgrove Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050602"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "triple-A syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050603 obo:IAO_0000115 "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:376"^^xsd:string, "OMIM:200500"^^xsd:string ; oboInOwl:hasExactSynonym "Acheiropodia"@en, "Horn-Kolb Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050603"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acheiropody"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050604 obo:IAO_0000115 "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10605"^^xsd:string, "MESH:C564334"^^xsd:string, "OMIM:607778"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050604"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acrocapitofemoral dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050605 obo:IAO_0000115 "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency."^^xsd:string ; oboInOwl:hasDbXref "GARD:5723"^^xsd:string, "OMIM:201100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050605"^^xsd:string ; a owl:Class ; rdfs:label "acrodermatitis enteropathica"^^xsd:string ; rdfs:subClassOf obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050606 obo:IAO_0000115 "A keratosis that has_material_basis_in mutations in the ATP2A2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:101900"^^xsd:string ; oboInOwl:hasExactSynonym "Acrokeratosis verruciformis of Hopf"@en, "Hopf disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050606"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acrokeratosis verruciformis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050608 obo:IAO_0000115 "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated."^^xsd:string ; oboInOwl:hasExactSynonym "Askin tumor"@en, "Askin tumour"@en, "Askin's tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050608"^^xsd:string ; a owl:Class ; rdfs:label "Askin's tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3369 . obo:DOID_0050610 obo:IAO_0000115 "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050610"^^xsd:string ; a owl:Class ; rdfs:label "oral cavity carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_403, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_0050611 obo:IAO_0000115 "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050611"^^xsd:string ; a owl:Class ; rdfs:label "pharynx carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006562 ] ) ] . obo:DOID_0050612 obo:IAO_0000115 "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050612"^^xsd:string ; a owl:Class ; rdfs:label "gallbladder carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] ) ] . obo:DOID_0050613 obo:IAO_0000115 "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050613"^^xsd:string ; a owl:Class ; rdfs:label "bile duct carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_4138, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002394 ] ) ] . obo:DOID_0050614 obo:IAO_0000115 "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050614"^^xsd:string ; a owl:Class ; rdfs:label "bronchus carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_1176, obo:DOID_8719 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_8719 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] ) ] . obo:DOID_0050615 obo:IAO_0000115 "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050615"^^xsd:string ; a owl:Class ; rdfs:label "respiratory system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_1579 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] ) ] . obo:DOID_0050616 oboInOwl:hasAlternativeId "DOID:4755"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050616"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant Leydig cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_0050617 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050617"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant Sertoli cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_0050618 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050618"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant Sertoli-Leydig cell tumor"^^xsd:string ; owl:deprecated true . obo:DOID_0050619 obo:IAO_0000115 "A respiratory system cancer that is located_in the paranasal sinuses."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1354"^^xsd:string, "DOID:2442"^^xsd:string, "DOID:2765"^^xsd:string, "DOID:2767"^^xsd:string, "DOID:4689"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010255"^^xsd:string, "NCI:C6014"^^xsd:string, "NCI:C6017"^^xsd:string, "NCI:C6018"^^xsd:string, "NCI:C6019"^^xsd:string, "NCI:C8193"^^xsd:string, "UMLS_CUI:C0280334"^^xsd:string, "UMLS_CUI:C0854995"^^xsd:string, "UMLS_CUI:C1335336"^^xsd:string, "UMLS_CUI:C1335337"^^xsd:string, "UMLS_CUI:C1335340"^^xsd:string ; oboInOwl:hasExactSynonym "Epidermoid carcinoma of the paranasal sinus"@en, "Mucoepidermoid carcinoma of Accessory sinus"@en, "adenoid cystic carcinoma of Accessory sinus"@en, "paranasal sinus adenocarcinoma"@en, "paranasal sinus adenoid cystic carcinoma"@en, "paranasal sinus mucoepidermoid carcinoma"@en, "paranasal sinus squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenoid cystic carcinoma of paranasal sinus"@en, "squamous cell carcinoma of paranasal sinus"@en ; oboInOwl:id "DOID:0050619"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranasal sinus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_1352, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] ) ] . obo:DOID_0050620 obo:IAO_0000115 "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050620"^^xsd:string ; a owl:Class ; rdfs:label "infiltrating renal pelvis transitional cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5974 . obo:DOID_0050621 obo:IAO_0000115 "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050621"^^xsd:string ; a owl:Class ; rdfs:label "respiratory system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_1579 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001004 ] ) ] . obo:DOID_0050622 obo:IAO_0000115 "An organ system benign neoplasm that is located_in reproductive system organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050622"^^xsd:string ; a owl:Class ; rdfs:label "reproductive organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_15 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000990 ] ) ] . obo:DOID_0050623 obo:IAO_0000115 "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050623"^^xsd:string ; a owl:Class ; rdfs:label "bladder benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_365, obo:DOID_731 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] . obo:DOID_0050624 obo:IAO_0000115 "An organ system benign neoplasm located_in gastrointestinal tract organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050624"^^xsd:string ; a owl:Class ; rdfs:label "gastrointestinal system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_0050625 obo:IAO_0000115 "A hepatobiliary benign neoplasm located_in the biliary tract."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4609"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4441"^^xsd:string, "SNOMEDCT_US_2021_03_01:126855001"^^xsd:string, "UMLS_CUI:C0345913"^^xsd:string ; oboInOwl:hasExactSynonym "extrahepatic bile duct neoplasm"@en, "neoplasm of extrahepatic bile ducts"@en, "tumor of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050625"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "biliary tract benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3117, obo:DOID_9741 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001173 ] ) ] . obo:DOID_0050626 obo:IAO_0000115 "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells."^^xsd:string ; oboInOwl:hasExactSynonym "gastrointestinal neuroendocrine tumour"@en, "malignant gastrointestinal neuroendocrine tumor"@en, "malignant gastrointestinal neuroendocrine tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050626"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "gastrointestinal neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3119 . obo:DOID_0050628 obo:IAO_0000115 "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS604348"^^xsd:string, "ORDO:164736"^^xsd:string ; oboInOwl:hasExactSynonym "familial advanced sleep-phase syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050628"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "advanced sleep phase syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050629 obo:IAO_0000115 "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections."^^xsd:string ; oboInOwl:hasDbXref "GARD:575"^^xsd:string, "ICD10CM:G31.8"^^xsd:string, "OMIM:225750"^^xsd:string, "OMIM:610181"^^xsd:string, "OMIM:610329"^^xsd:string, "OMIM:610333"^^xsd:string, "OMIM:612952"^^xsd:string, "OMIM:615010"^^xsd:string, "OMIM:615846"^^xsd:string, "ORDO:51"^^xsd:string ; oboInOwl:hasExactSynonym "Cree encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050629"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Aicardi-Goutieres syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0050630 obo:IAO_0000115 "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10574"^^xsd:string, "MESH:C562664"^^xsd:string, "OMIM:300600"^^xsd:string ; oboInOwl:hasExactSynonym "FORSIUS-ERIKSSON TYPE OCULAR ALBINISM"@en, "Forsius-Eriksson syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050630"^^xsd:string ; a owl:Class ; rdfs:label "Aland Island eye disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050631 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement."^^xsd:string ; oboInOwl:hasDbXref "GARD:5617"^^xsd:string, "MESH:C537047"^^xsd:string, "OMIM:300523"^^xsd:string, "ORDO:59"^^xsd:string ; oboInOwl:hasExactSynonym "AHDS"@en, "ALLAN-HERNDON SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050631"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Allan-Herndon-Dudley syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050632 obo:IAO_0000115 "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes."^^xsd:string ; oboInOwl:hasDbXref "GARD:10958"^^xsd:string, "ICD10CM:E70.3"^^xsd:string, "MESH:D016115"^^xsd:string, "OMIM:PS203100"^^xsd:string, "ORDO:55"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050632"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "oculocutaneous albinism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050633 obo:IAO_0000115 "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016117"^^xsd:string, "OMIM:300500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050633"^^xsd:string ; a owl:Class ; rdfs:label "ocular albinism"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0050634 obo:IAO_0000115 "An alopecia characterized by the complete loss of hair on the scalp and body."^^xsd:string ; oboInOwl:hasDbXref "GARD:614"^^xsd:string, "OMIM:203655"^^xsd:string ; oboInOwl:hasExactSynonym "ALOPECIA UNIVERSALIS CONGENITA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050634"^^xsd:string ; a owl:Class ; rdfs:label "alopecia universalis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_987, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050635 obo:IAO_0000115 "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:11"^^xsd:string, "ICD10CM:G98"^^xsd:string, "MESH:C536589"^^xsd:string, "OMIM:104290"^^xsd:string, "OMIM:614820"^^xsd:string, "ORDO:2131"^^xsd:string ; oboInOwl:hasExactSynonym "AHC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050635"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "alternating hemiplegia of childhood"^^xsd:string ; rdfs:subClassOf obo:DOID_10969, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050636 obo:IAO_0000115 "An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys."^^xsd:string ; oboInOwl:hasDbXref "GARD:8282"^^xsd:string, "OMIM:105200"^^xsd:string, "ORDO:85450"^^xsd:string ; oboInOwl:hasExactSynonym "AMYLOIDOSIS, FAMILIAL RENAL"@en, "German type amyloidosis"@en, "OSTERTAG TYPE AMYLOIDOSIS"@en, "systemic nonneuropathic amyloidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050636"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "familial visceral amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050637 obo:IAO_0000115 "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa."^^xsd:string ; oboInOwl:hasDbXref "GARD:2339"^^xsd:string, "OMIM:105120"^^xsd:string, "ORDO:85448"^^xsd:string ; oboInOwl:hasExactSynonym "AGel amyloidosis"^^xsd:string, "AMYLOIDOSIS, MERETOJA TYPE"@en, "Lattice corneal dystrophy type II"^^xsd:string, "gelsolin amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050637"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Finnish type amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050639, obo:DOID_0050736, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001021 ] . obo:DOID_0050638 obo:IAO_0000115 "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050761"^^xsd:string ; oboInOwl:hasDbXref "GARD:656"^^xsd:string, "ICD10CM:E85.82"^^xsd:string, "OMIM:105210"^^xsd:string, "ORDO:85447"^^xsd:string ; oboInOwl:hasExactSynonym "ATTR amyloidosis"^^xsd:string, "ATTRm amyloidosis"^^xsd:string, "Amyloidosis, hereditary, transthyretin-related"@en, "Corino de Andrade's disease"@en, "Familial transthyretin amyloidosis"@en, "TTR amyloidosis"@en, "familial amyloid polyneuropathy"@en, "paramyloidosis"^^xsd:string, "transthyretin-related hereditary amyloidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050638"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "transthyretin amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_114, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001021 ] . obo:DOID_0050639 obo:IAO_0000115 "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis."^^xsd:string ; oboInOwl:hasDbXref "GARD:132"^^xsd:string, "OMIM:PS105250"^^xsd:string, "ORDO:137807"^^xsd:string, "ORDO:353220"^^xsd:string ; oboInOwl:hasExactSynonym "PCA"@en, "familial primary localized cutaneous amyloidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050639"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "primary cutaneous amyloidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9120 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ] . obo:DOID_0050640 obo:IAO_0000115 "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607095"^^xsd:string ; oboInOwl:hasExactSynonym "spondylometaepiphyseal dysplasia, Menger type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050640"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "anauxetic dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050641 obo:IAO_0000115 "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:12916"^^xsd:string, "OMIM:268150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050641"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Rh deficiency syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_583 . obo:DOID_0050642 obo:IAO_0000115 "A microcytic anemia characterized by paler than normal blood cells."^^xsd:string ; oboInOwl:hasDbXref "OMIM:206100"^^xsd:string, "OMIM:615234"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050642"^^xsd:string ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypochromic microcytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_11252 . obo:DOID_0050643 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050643"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anonychia congenita"^^xsd:string ; owl:deprecated true . obo:DOID_0050644 obo:IAO_0000115 "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall."^^xsd:string ; oboInOwl:hasDbXref "GARD:8380"^^xsd:string, "MESH:C537440"^^xsd:string, "OMIM:208000"^^xsd:string, "OMIM:614473"^^xsd:string, "ORDO:51608"^^xsd:string ; oboInOwl:hasExactSynonym "generalized arterial calcification of infancy"@en, "idiopathic infantile arterial calcification"@en, "infantile arteriosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050644"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "arterial calcification of infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001637 ] . obo:DOID_0050645 obo:IAO_0000115 "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta."^^xsd:string ; oboInOwl:hasDbXref "GARD:774"^^xsd:string, "MESH:C565942"^^xsd:string, "OMIM:208050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050645"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "arterial tortuosity syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_0050646 obo:IAO_0000115 "A muscle tissue disease characterized by congenital joint contractures of hand and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:786"^^xsd:string, "OMIM:PS108120"^^xsd:string, "ORDO:1147"^^xsd:string, "ORDO:97120"^^xsd:string ; oboInOwl:hasExactSynonym "Arthrogryposis Multiplex Congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050646"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "distal arthrogryposis"^^xsd:string ; rdfs:subClassOf obo:DOID_66 . obo:DOID_0050647 obo:IAO_0000115 "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:8756"^^xsd:string, "MESH:C535388"^^xsd:string, "OMIM:301835"^^xsd:string, "ORDO:1187"^^xsd:string, "SNOMEDCT_US_2021_03_01:702441001"^^xsd:string, "UMLS_CUI:C0796028"^^xsd:string ; oboInOwl:hasExactSynonym "ARTS"@en, "Lethal ataxia with deafness and optic atrophy"@en, "MRXS18"@en, "MRXSARTS"@en, "fatal X-linked ataxia with deafness and loss of vision"@en, "syndromic X-linked mental retardation 18"@en, "syndromic X-linked mental retardation Arts type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050647"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Arts syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0050648 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108720"^^xsd:string, "OMIM:108721"^^xsd:string, "OMIM:256050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050648"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "atelosteogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0050649 obo:IAO_0000115 "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9595"^^xsd:string, "NCI:C125693"^^xsd:string, "OMIM:209300"^^xsd:string, "ORDO:1195"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypotransferrinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050649"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "atransferrinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050650 obo:IAO_0000115 "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:9740"^^xsd:string, "OMIM:607554"^^xsd:string, "OMIM:608583"^^xsd:string, "OMIM:608988"^^xsd:string, "OMIM:611493"^^xsd:string, "OMIM:611494"^^xsd:string, "OMIM:612201"^^xsd:string, "OMIM:612240"^^xsd:string, "OMIM:613055"^^xsd:string, "OMIM:613980"^^xsd:string, "OMIM:614022"^^xsd:string, "OMIM:614049"^^xsd:string, "OMIM:614050"^^xsd:string, "OMIM:615377"^^xsd:string, "OMIM:615378"^^xsd:string, "OMIM:615770"^^xsd:string, "OMIM:PS608583"^^xsd:string, "ORDO:334"^^xsd:string ; oboInOwl:hasExactSynonym "ATFB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050650"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "familial atrial fibrillation"^^xsd:string ; rdfs:subClassOf obo:DOID_0060224, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000226 ] . obo:DOID_0050651 obo:IAO_0000115 "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:802"^^xsd:string, "ICD10CM:Q21.2"^^xsd:string, "ICD9CM:745.6"^^xsd:string, "MESH:D004694"^^xsd:string, "OMIM:600309"^^xsd:string, "OMIM:606215"^^xsd:string, "OMIM:614430"^^xsd:string, "OMIM:614474"^^xsd:string, "ORDO:98722"^^xsd:string, "SNOMEDCT_US_2021_03_01:204322008"^^xsd:string, "UMLS_CUI:C0014116"^^xsd:string ; oboInOwl:hasExactSynonym "AVCD"@en, "AVSD"@en, "ECD"@en, "atrioventricular canal defect"@en, "endocardial cushion defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050651"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "atrioventricular septal defect"^^xsd:string ; rdfs:subClassOf obo:DOID_1681 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_114 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005989 ] ) ] . obo:DOID_0050652 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050652"^^xsd:string ; a owl:Class ; rdfs:label "obsolete soft tissue cancer"^^xsd:string ; owl:deprecated true . obo:DOID_0050653 oboInOwl:hasExactSynonym "nevus of Clark"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050653"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dysplastic nevus"^^xsd:string ; owl:deprecated true . obo:DOID_0050654 obo:IAO_0000115 "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:1602"^^xsd:string, "MESH:C536788"^^xsd:string, "OMIM:218600"^^xsd:string, "ORDO:1223"^^xsd:string, "SNOMEDCT_US_2021_03_01:77608001"^^xsd:string, "UMLS_CUI:C0265308"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050654"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Baller-Gerold syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11971 . obo:DOID_0050655 obo:IAO_0000115 "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:241850"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050655"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bamforth-Lazarus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_0050656 obo:IAO_0000115 "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12426"^^xsd:string, "OMIM:251290"^^xsd:string, "ORDO:1229"^^xsd:string ; oboInOwl:hasExactSynonym "BLC-PMG"@en, "BLCPMG"@en, "Baraitser-Brett-Piesowicz syndrome"@en, "Baraitser-Reardon syndrome"@en, "PTORCH1"@en, "band-like calcification with simplified gyration and polymicrogyria"@en, "bilateral band-like calcification with polymicrogyria"@en, "microcephaly-intracranial calcification-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050656"^^xsd:string ; a owl:Class ; rdfs:label "pseudo-TORCH syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050657 obo:IAO_0000115 "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:5887"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "MESH:D006223"^^xsd:string, "NCI:C3939"^^xsd:string, "OMIM:158350"^^xsd:string, "ORDO:109"^^xsd:string ; oboInOwl:hasExactSynonym "Bannayan-Zonana syndrome"@en, "Cowden syndrome 1"^^xsd:string, "Riley-Smith syndrome"@en, "Ruvalcaba-Myhre-Smith syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050657"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bannayan-Riley-Ruvalcaba syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_6457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050658 obo:IAO_0000115 "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:149200"^^xsd:string ; oboInOwl:hasExactSynonym "KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050658"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bart-Pumphrey syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050659 obo:IAO_0000115 "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537658"^^xsd:string, "OMIM:607483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050659"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "biotin-responsive basal ganglia disease"^^xsd:string ; rdfs:subClassOf obo:DOID_679 . obo:DOID_0050660 obo:IAO_0000115 "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:332"^^xsd:string, "OMIM:123790"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050660"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Beare-Stevenson cutis gyrata syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050661 obo:IAO_0000115 "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:10120"^^xsd:string, "GARD:182"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "MESH:D057826"^^xsd:string, "OMIM:153700"^^xsd:string, "OMIM:153840"^^xsd:string, "OMIM:608161"^^xsd:string, "OMIM:616151"^^xsd:string, "OMIM:616152"^^xsd:string, "ORDO:1243"^^xsd:string, "ORDO:99000"^^xsd:string ; oboInOwl:hasExactSynonym "Best disease"@en, "Best macular dystrophy"@en, "juvenile-onset vitelliform macular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050661"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "vitelliform macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0050662 obo:IAO_0000115 "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567518"^^xsd:string, "OMIM:611809"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive bestrophinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050662"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "bestrophinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0050663 obo:IAO_0000115 "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:873"^^xsd:string, "OMIM:158810"^^xsd:string ; oboInOwl:hasExactSynonym "benign congenital muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050663"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bethlem myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557 . obo:DOID_0050664 obo:IAO_0000115 "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:10050"^^xsd:string, "OMIM:210370"^^xsd:string ; oboInOwl:hasExactSynonym "Bietti's crystalline dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050664"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bietti crystalline corneoretinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_0050665 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050665"^^xsd:string ; a owl:Class ; rdfs:label "fetal alcohol syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050666 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050666"^^xsd:string ; a owl:Class ; rdfs:label "partial fetal alcohol syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050667 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure."^^xsd:string ; oboInOwl:hasExactSynonym "ARND"@en, "static encephalopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050667"^^xsd:string ; a owl:Class ; rdfs:label "alcohol-related neurodevelopmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050668 obo:IAO_0000115 "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure."^^xsd:string ; oboInOwl:hasExactSynonym "ARBD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050668"^^xsd:string ; a owl:Class ; rdfs:label "alcohol-related birth defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050696, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050669 obo:IAO_0000115 "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050669"^^xsd:string ; a owl:Class ; rdfs:label "spastic cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969 . obo:DOID_0050670 obo:IAO_0000115 "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing."^^xsd:string ; oboInOwl:hasDbXref "GARD:10451"^^xsd:string, "OMIM:605388"^^xsd:string ; oboInOwl:hasExactSynonym "hypotonic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050670"^^xsd:string ; a owl:Class ; rdfs:label "ataxic cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ] . obo:DOID_0050671 obo:IAO_0000115 "A breast cancer that develops from breast tissue in females."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-15T02:48:20Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050671"^^xsd:string ; a owl:Class ; rdfs:label "female breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0050672 obo:IAO_0000115 "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions."^^xsd:string ; oboInOwl:hasExactSynonym "Athetoid Dyskinetic Cerebral Palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050672"^^xsd:string ; a owl:Class ; rdfs:label "dyskinetic cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ] . obo:DOID_0050673 obo:IAO_0000115 "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050673"^^xsd:string ; a owl:Class ; rdfs:label "mixed cerebral palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1969 . obo:DOID_0050674 obo:IAO_0000115 "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K76.8"^^xsd:string ; oboInOwl:hasExactSynonym "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency"@en, "CBA"@en, "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050674"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "congenital bile acid synthesis defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1701, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050675 obo:IAO_0000115 "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:10358"^^xsd:string, "MESH:C567357"^^xsd:string, "OMIM:612292"^^xsd:string ; oboInOwl:hasExactSynonym "Birk-Barel mental retardation dysmorphism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050675"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Birk-Barel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050676 obo:IAO_0000115 "A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:2322"^^xsd:string, "MESH:D058249"^^xsd:string, "OMIM:135150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050676"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Birt-Hogg-Dube syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050677 obo:IAO_0000115 "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:22"^^xsd:string, "MESH:C537633"^^xsd:string, "OMIM:262000"^^xsd:string, "ORDO:123"^^xsd:string, "SNOMEDCT_US_2021_03_01:67817003"^^xsd:string, "UMLS_CUI:C0266006"^^xsd:string ; oboInOwl:hasExactSynonym "BJS"@en, "PTD"@en, "deafness-pili torti-hypogonadism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050677"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bjornstad syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050678 obo:IAO_0000115 "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:304"^^xsd:string, "NCI:C116794"^^xsd:string, "OMIM:186580"^^xsd:string ; oboInOwl:hasExactSynonym "ARTHROCUTANEOUVEAL GRANULOMATOSIS"@en, "BLAUS"@en, "Jabs syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Blau syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050679 obo:IAO_0000115 "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:917"^^xsd:string, "OMIM:303700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050679"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "blue cone monochromacy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050680 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "GARD:933"^^xsd:string, "OMIM:112310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050680"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Boomerang dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050681 obo:IAO_0000115 "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:936"^^xsd:string, "MESH:C536575"^^xsd:string, "NCI:C157122"^^xsd:string, "OMIM:301900"^^xsd:string, "ORDO:127"^^xsd:string, "SNOMEDCT_US_2021_03_01:21634003"^^xsd:string, "UMLS_CUI:C0265339"^^xsd:string ; oboInOwl:hasExactSynonym "BFLS"@en, "BORJ"@en, "Borjeson syndrome"@en, "MRXSBFL"@en, "intellectual deficiency-epilepsy-endocrine disorders syndrome"@en, "mental retardation, epilepsy, and endocrine disorder"@en, "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050681"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Borjeson-Forssman-Lehmann syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050682 obo:IAO_0000115 "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601536"^^xsd:string, "ORDO:69739"^^xsd:string ; oboInOwl:hasExactSynonym "NAVAJO BRAINSTEM SYNDROME"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050682"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Athabaskan brainstem dysgenesis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050683 obo:IAO_0000115 "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607475"^^xsd:string ; oboInOwl:hasExactSynonym "Vasterbotten dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050683"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bothnia retinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_0050684 obo:IAO_0000115 "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5950"^^xsd:string, "MESH:C537081"^^xsd:string, "OMIM:211180"^^xsd:string, "ORDO:1270"^^xsd:string, "SNOMEDCT_US_2021_03_01:711153001"^^xsd:string, "UMLS_CUI:C1859405"^^xsd:string ; oboInOwl:hasExactSynonym "BWCNS"@en, "Bowen Hutterite syndrome"@en, "Bowen-Conradi Hutterite syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050684"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bowen-Conradi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050685 obo:IAO_0000115 "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-13T01:25:14Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7137"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4099"^^xsd:string, "SNOMEDCT_US_2021_03_01:5958006"^^xsd:string, "UMLS_CUI:C0334239"^^xsd:string ; oboInOwl:hasExactSynonym "Small cell carcinoma - intermediate cell"@en, "Small cell carcinoma, intermediate cell"@en, "intermediate cell small cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050685"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_0050686 obo:IAO_0000115 "A cancer that is classified based on the organ it starts in."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-13T03:28:33Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050686"^^xsd:string ; a owl:Class ; rdfs:label "organ system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_162 . obo:DOID_0050687 obo:IAO_0000115 "A cancer that is classified by the type of cell from which it is derived."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-13T03:28:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050687"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "cell type cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_162 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000000 ] ) ] . obo:DOID_0050688 obo:IAO_0000115 "A large intestine cancer that is located_in the terminal part of the large intestine."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-14T01:34:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050688"^^xsd:string ; a owl:Class ; rdfs:label "anal canal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_5672 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000159 ] ) ] . obo:DOID_0050689 obo:IAO_0000115 "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T03:55:47Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C565193"^^xsd:string, "OMIM:610713"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050689"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "brachydactyly-syndactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050690 obo:IAO_0000115 "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:00:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10903"^^xsd:string, "OMIM:113500"^^xsd:string, "OMIM:271530"^^xsd:string, "OMIM:271630"^^xsd:string, "OMIM:613678"^^xsd:string, "ORDO:1293"^^xsd:string ; oboInOwl:hasExactSynonym "brachyrachia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050690"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "brachyolmia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050691 obo:IAO_0000115 "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:10:18Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3212"^^xsd:string, "OMIM:113620"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050691"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "branchiooculofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050692 obo:IAO_0000115 "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:30:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9158"^^xsd:string, "MESH:C536607"^^xsd:string, "OMIM:601003"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050692"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brody myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_913 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001134 ] ) ] . obo:DOID_0050693 obo:IAO_0000115 "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:34:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10179"^^xsd:string, "OMIM:605041"^^xsd:string, "ORDO:79493"^^xsd:string, "SNOMEDCT_US_2021_03_01:703531009"^^xsd:string, "UMLS_CUI:C1857941"^^xsd:string ; oboInOwl:hasExactSynonym "BRSS"@en, "BSS"@en, "CYLD cutaneous syndrome"@en, "SBS"@en, "Spiegler-Brooke Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050693"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brooke-Spiegler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050694 obo:IAO_0000115 "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-17T04:38:07Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537111"^^xsd:string, "OMIM:PS211530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050694"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Brown-Vialetto-Van Laere syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 ; skos:exactMatch "MESH:C537111"^^xsd:string . obo:DOID_0050695 obo:IAO_0000115 "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura."^^xsd:string ; oboInOwl:created_by "snadendla"^^xsd:string ; oboInOwl:creation_date "2011-06-27T09:57:44Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050695"^^xsd:string ; a owl:Class ; rdfs:label "malignant pleural solitary fibrous tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_5158 . obo:DOID_0050696 obo:IAO_0000115 "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-12-01T01:01:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050696"^^xsd:string ; a owl:Class ; rdfs:label "fetal alcohol spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050697 obo:IAO_0000115 "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-01-03T01:13:08Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002821"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050697"^^xsd:string ; a owl:Class ; rdfs:label "chorioamnionitis"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_0050698 obo:IAO_0000115 "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-01-03T01:18:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050698"^^xsd:string ; a owl:Class ; rdfs:label "funisitis"^^xsd:string ; rdfs:subClassOf obo:DOID_65 . obo:DOID_0050699 obo:IAO_0000115 "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-03-12T14:32:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13105"^^xsd:string, "MESH:C538212"^^xsd:string, "MESH:C564487"^^xsd:string, "MESH:D057973"^^xsd:string, "NCI:C123260"^^xsd:string, "OMIM:300009"^^xsd:string, "OMIM:300555"^^xsd:string, "ORDO:1652"^^xsd:string, "SNOMEDCT_US_2021_03_01:444645005"^^xsd:string, "SNOMEDCT_US_2021_03_01:717789008"^^xsd:string, "UMLS_CUI:C0878681"^^xsd:string, "UMLS_CUI:C1845167"^^xsd:string, "UMLS_CUI:C1848336"^^xsd:string ; oboInOwl:hasExactSynonym "Dent disease 1"@en, "Dent disease 2"@en, "Dent's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050699"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Dent disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0050700 obo:IAO_0000115 "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-01-03T02:54:11Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42"^^xsd:string, "ICD9CM:425"^^xsd:string, "ICD9CM:425.9"^^xsd:string, "MESH:D009202"^^xsd:string, "NCI:C34830"^^xsd:string, "NCI:C53654"^^xsd:string, "SNOMEDCT_US_2021_03_01:266301006"^^xsd:string, "SNOMEDCT_US_2021_03_01:89461002"^^xsd:string, "SNOMEDCT_US_2021_03_01:89600009"^^xsd:string, "UMLS_CUI:C0033141"^^xsd:string, "UMLS_CUI:C0036529"^^xsd:string, "UMLS_CUI:C0878544"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiomyopathies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050700"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:D009202 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_114 . obo:DOID_0050701 obo:IAO_0000115 "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:42:46Z"^^xsd:string ; oboInOwl:hasExactSynonym "electro-clinical syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050701"^^xsd:string ; a owl:Class ; rdfs:label "electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_0050702 obo:IAO_0000115 "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050702"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "neonatal period electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0050703 obo:IAO_0000115 "An electroclinical syndrome with onset in infancy occurring between birth and one year of age."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050703"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "infancy electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0050704 obo:IAO_0000115 "An electroclinical syndrome with onset in childhood between one and 12 years of age."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050704"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "childhood electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0070309, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050705 obo:IAO_0000115 "An electroclinical syndrome with onset in adolescence and adulthood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050705"^^xsd:string ; a owl:Class ; rdfs:label "adolescence-adult electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0070309, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:HP_0003581 obo:HP_0011462 ) ] ] . obo:DOID_0050706 obo:IAO_0000115 "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T11:48:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050706"^^xsd:string ; a owl:Class ; rdfs:label "variable age at onset electroclinical syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0050707 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T01:42:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050707"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nonsyndromic epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_0050708 obo:IAO_0000115 "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-04-11T02:29:04Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050708"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "early onset absence epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050704, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0050709 obo:IAO_0000115 "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-10T10:02:58Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2481"^^xsd:string ; oboInOwl:hasDbXref "GARD:9255"^^xsd:string, "ORDO:1934"^^xsd:string ; oboInOwl:hasExactSynonym "Early Infantile Epileptic Encephalopathy with Burst-Suppression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050709"^^xsd:string ; a owl:Class ; rdfs:label "early infantile epileptic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050702 . obo:DOID_0050710 obo:IAO_0000115 "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T10:32:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10954"^^xsd:string, "OMIM:PS210200"^^xsd:string, "ORDO:6"^^xsd:string ; oboInOwl:hasExactSynonym "3-Methylcrotonylglycinuria"@en, "3MCC deficiency"@en, "BMCC deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050710"^^xsd:string ; a owl:Class ; rdfs:label "3-Methylcrotonyl-CoA carboxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080000, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003202 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9252 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_0050711 obo:IAO_0000115 "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T11:47:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9499"^^xsd:string, "OMIM:604290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050711"^^xsd:string ; a owl:Class ; rdfs:label "aceruloplasminemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2351, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050712 obo:IAO_0000115 "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T11:53:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612718"^^xsd:string ; oboInOwl:hasExactSynonym "CEREBRAL CREATINE DEFICIENCY SYNDROME 3"@en, "arginine:glycine amidinotransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050712"^^xsd:string ; a owl:Class ; rdfs:label "AGAT deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050798, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050713 obo:IAO_0000115 "A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-22T01:03:41Z"^^xsd:string ; oboInOwl:hasDbXref "ORDO:1561"^^xsd:string ; oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency"@en, "fatal infantile COX deficiency"@en, "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"@en, "fatal infantile cytochrome C oxidase deficiency"@en, "fatal infantile encephalocardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050713"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0050715 obo:IAO_0000115 "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-23T03:26:25Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:277400"^^xsd:string ; oboInOwl:hasExactSynonym "Cobalamin C deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050715"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblC"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050716 obo:IAO_0000115 "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-23T03:26:25Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:277410"^^xsd:string ; oboInOwl:hasExactSynonym "Cobalamin D deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050716"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblD"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050717 obo:IAO_0000115 "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-05-23T03:26:25Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:277380"^^xsd:string ; oboInOwl:hasExactSynonym "Cobalamin F deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050717"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblF"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050718 obo:IAO_0000115 "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-11T02:44:53Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050718"^^xsd:string ; a owl:Class ; rdfs:label "vitamin metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0050719 obo:IAO_0000115 "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-11T02:58:59Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613068"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050719"^^xsd:string ; a owl:Class ; rdfs:label "cerebral folate receptor alpha deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0050720 obo:IAO_0000115 "An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:238970"^^xsd:string ; oboInOwl:hasExactSynonym "HHH syndrome"@en, "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050720"^^xsd:string ; a owl:Class ; rdfs:label "ornithine translocase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29189 ] . obo:DOID_0050721 obo:IAO_0000115 "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050721"^^xsd:string ; a owl:Class ; rdfs:label "serine deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050722 obo:IAO_0000115 "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566618"^^xsd:string, "OMIM:601815"^^xsd:string ; oboInOwl:hasExactSynonym "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050722"^^xsd:string ; a owl:Class ; rdfs:label "PHGDH deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721 . obo:DOID_0050723 obo:IAO_0000115 "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:610992"^^xsd:string ; oboInOwl:hasExactSynonym "Phosphoserine aminotransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050723"^^xsd:string ; a owl:Class ; rdfs:label "PSAT deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721 . obo:DOID_0050724 obo:IAO_0000115 "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614023"^^xsd:string ; oboInOwl:hasExactSynonym "PSPHD"@en, "Phosphoserine phosphatase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050724"^^xsd:string ; a owl:Class ; rdfs:label "PSPH deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721 . obo:DOID_0050725 obo:IAO_0000115 "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-06-13T03:09:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:276600"^^xsd:string ; oboInOwl:hasExactSynonym "Oculocutaneous tyrosinemia"@en, "Richner-Hanhart syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050725"^^xsd:string ; a owl:Class ; rdfs:label "tyrosinemia type II"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_409, obo:DOID_9275, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000972 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003231 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000314 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9252 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_0050726 obo:IAO_0000115 "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-06T02:55:45Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:276700"^^xsd:string ; oboInOwl:hasExactSynonym "hepatorenal tyrosinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050726"^^xsd:string ; a owl:Class ; rdfs:label "tyrosinemia type I"^^xsd:string ; rdfs:subClassOf obo:DOID_9275, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003231 ] . obo:DOID_0050727 obo:IAO_0000115 "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-06T02:55:45Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:276710"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050727"^^xsd:string ; a owl:Class ; rdfs:label "tyrosinemia type III"^^xsd:string ; rdfs:subClassOf obo:DOID_9275, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003231 ] . obo:DOID_0050728 obo:IAO_0000115 "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-13T10:42:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050728"^^xsd:string ; a owl:Class ; rdfs:label "glycogen metabolism disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 . obo:DOID_0050729 obo:IAO_0000115 "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T12:31:48Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:275630"^^xsd:string ; oboInOwl:hasExactSynonym "Chanarin-Dorfman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050729"^^xsd:string ; a owl:Class ; rdfs:label "neutral lipid storage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0050730 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T12:58:37Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10423"^^xsd:string, "OMIM:PS607426"^^xsd:string ; oboInOwl:hasExactSynonym "COENZYME Q10 DEFICIENCY, PRIMARY"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050730"^^xsd:string ; a owl:Class ; rdfs:label "coenzyme Q10 deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0050731 obo:IAO_0000115 "A vitamin metabolic disorder that results from low blood levels of vitamin B12."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:01:29Z"^^xsd:string ; oboInOwl:hasExactSynonym "cobalamin deficiency"@en, "hypocobalaminemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050731"^^xsd:string ; a owl:Class ; rdfs:label "vitamin B12 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0040126 ] . obo:DOID_0050732 obo:IAO_0000115 "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR on chromosome 5p15 that causes inborn error of vitamin B12 metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:42:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050732"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblE"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050733 obo:IAO_0000115 "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:42:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050733"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria type cblG"^^xsd:string ; rdfs:subClassOf obo:DOID_14749 . obo:DOID_0050734 obo:IAO_0000115 "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-17T01:52:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:261000"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary intrinsic factor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050734"^^xsd:string ; a owl:Class ; rdfs:label "congenital intrinsic factor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050731, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050735 obo:IAO_0000115 "A monogenic disease that has_material_basis_in muations in genes on the X chromosome."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:47:31Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050735"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "X-linked monogenic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] ) ] . obo:DOID_0050736 obo:IAO_0000115 "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:51:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050736"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ) ] . obo:DOID_0050737 obo:IAO_0000115 "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:51:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050737"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ) ] . obo:DOID_0050738 obo:IAO_0000115 "A monogenic disease that has_material_basis_in muations on the Y chromosome."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T12:51:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050738"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "Y-linked monogenic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] ) ] . obo:DOID_0050739 obo:IAO_0000115 "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-07-24T04:45:53Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050739"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "autosomal genetic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] ) ] . obo:DOID_0050740 obo:IAO_0000115 "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-08-10T01:08:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:371"^^xsd:string, "MESH:C536259"^^xsd:string, "OMIM:600096"^^xsd:string ; oboInOwl:hasExactSynonym "Dysharmonic skeletal maturation - muscular fibre disproportion"@en, "Qazi-Markouizos syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050740"^^xsd:string ; a owl:Class ; rdfs:label "Qazi Markouizos syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0005832 ] . obo:DOID_0050741 obo:IAO_0000115 "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-05T11:48:42Z"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003829"^^xsd:string, "KEGG:05034"^^xsd:string, "OMIM:103780"^^xsd:string, "SNOMEDCT_US_2020_03_01:66590003"^^xsd:string ; oboInOwl:hasExactSynonym "alcoholism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050741"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcohol dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9973, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0050742 obo:IAO_0000115 "A substance dependence that is characterized by a physical dependence on nicotine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-05T11:48:42Z"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003768"^^xsd:string, "ICD10CM:F17"^^xsd:string, "MESH:D014029"^^xsd:string, "NCI:C54203"^^xsd:string, "SNOMEDCT_US_2021_03_01:56294008"^^xsd:string, "UMLS_CUI:C0028043"^^xsd:string ; oboInOwl:hasExactSynonym "tobacco use disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050742"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nicotine dependence"^^xsd:string ; rdfs:subClassOf obo:DOID_9973 . obo:DOID_0050743 obo:IAO_0000115 "A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T01:56:52Z"^^xsd:string ; oboInOwl:hasExactSynonym "NK-T cell lymphoma"@en, "mature T-cell and natural killer cell lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050743"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mature T-cell and NK-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060060 . obo:DOID_0050744 obo:IAO_0000115 "A non-Hodgkin lymphoma involving aberrant T-cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T01:57:40Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050744"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "anaplastic large cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060060 . obo:DOID_0050745 obo:IAO_0000115 "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T01:58:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3178"^^xsd:string, "MESH:D016403"^^xsd:string ; oboInOwl:hasExactSynonym "DLBCL"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050745"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse large B-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050746 obo:IAO_0000115 "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:00:45Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6969"^^xsd:string, "MESH:D020522"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050746"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mantle cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050747 obo:IAO_0000115 "A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:00:45Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050747"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "lymphoplasmacytic lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050748 obo:IAO_0000115 "A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:00:45Z"^^xsd:string ; oboInOwl:hasExactSynonym "marginal zone lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050748"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "marginal zone B-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707, obo:DOID_9500 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060058 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000845 ] ) ] . obo:DOID_0050749 obo:IAO_0000115 "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:01:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7368"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050749"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "peripheral T-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050743 . obo:DOID_0050750 obo:IAO_0000115 "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:03:06Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050750"^^xsd:string ; a owl:Class ; rdfs:label "splenic marginal zone lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050748, obo:DOID_672, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] . obo:DOID_0050751 obo:IAO_0000115 "A T-cell lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2012-09-18T02:05:41Z"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9831/3"^^xsd:string, "NCI:C4664"^^xsd:string ; oboInOwl:hasExactSynonym "Large granular lymphocytic leukaemia"@en, "Large granular lymphocytic leukemia"@en, "T-cell large granular lymphocyte leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050751"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "T-cell large granular lymphocyte leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_715 . obo:DOID_0050752 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20."^^xsd:string ; oboInOwl:hasDbXref "GARD:10499"^^xsd:string, "OMIM:608627"^^xsd:string ; oboInOwl:hasExactSynonym "ALS8"@en, "amyotrophic lateral sclerosis 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050752"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0050753 obo:IAO_0000115 "A hereditary ataxia that is characterized by ataxia originating in the cerebellum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:07:02Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D002524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050753"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050951, obo:DOID_2786, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002037 ] . obo:DOID_0050754 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:07:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9283"^^xsd:string, "OMIM:208920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050754"^^xsd:string ; a owl:Class ; rdfs:label "ataxia with oculomotor apraxia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0050755 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:07:02Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050755"^^xsd:string ; a owl:Class ; rdfs:label "ataxia with oculomotor apraxia type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0050756 oboInOwl:creation_date "2013-01-16T01:15:03Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050756"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "obsolete CLN3 disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050757 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:20:50Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050867"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535808"^^xsd:string, "OMIM:304700"^^xsd:string, "ORDO:3213"^^xsd:string ; oboInOwl:hasExactSynonym "Deafness Dystonia Optic Atrophy Syndrome"@en, "Deafness Dystonia Optic Neuronopathy Syndrome"@en, "Dystonia Deafness Syndrome"@en, "Jensen syndrome"@en, "Mohr-Tranebjaerg Syndrome"@en, "Mohr-Tranebjaerg syndrome"@en, "deafness dystonia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050757"^^xsd:string ; a owl:Class ; rdfs:label "deafness-dystonia-optic neuronopathy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050758 obo:IAO_0000115 "An acquired metabolic disease that characterized by excessive production of acid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:23:37Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050758"^^xsd:string ; a owl:Class ; rdfs:label "metabolic acidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_0050759 obo:IAO_0000115 "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:27:31Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9728"^^xsd:string, "ICD10CM:G71.1"^^xsd:string, "ICD9CM:359.2"^^xsd:string, "MESH:D020967"^^xsd:string, "NCI:C84913"^^xsd:string, "OMIM:602668"^^xsd:string, "ORDO:606"^^xsd:string, "SNOMEDCT_US_2021_03_01:155096007"^^xsd:string, "UMLS_CUI:C0553604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myotonic dystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_450, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050760 obo:IAO_0000115 "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:29:01Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3892"^^xsd:string, "OMIM:310440"^^xsd:string ; oboInOwl:hasExactSynonym "XMEA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050760"^^xsd:string ; a owl:Class ; rdfs:label "X-linked myopathy with excessive autophagy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050761 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-16T01:30:21Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050761"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paramyloidosis"^^xsd:string ; owl:deprecated true . obo:DOID_0050762 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:42:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:550"^^xsd:string, "OMIM:103050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050762"^^xsd:string ; a owl:Class ; rdfs:label "adenylosuccinase lyase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0050763 obo:IAO_0000115 "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:46:38Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS208085"^^xsd:string, "ORDO:2697"^^xsd:string ; oboInOwl:hasExactSynonym "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS"@en, "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome"@en, "Arthrogryposis-renal dysfunction-cholestasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050763"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "ARC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050764 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:48:15Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300261"^^xsd:string, "ORDO:85276"^^xsd:string ; oboInOwl:hasExactSynonym "Armfield X-linked mental retardation syndrome"@en, "MRXSA"@en, "X-linked intellectual disability, Armfield type"@en, "mental retardation syndrome, X-linked, Armfield type"@en, "syndromic X-linked mental retardation Armfield type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050764"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Armfield syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0050765 obo:IAO_0000115 "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:54:19Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10902"^^xsd:string, "MESH:D054546"^^xsd:string, "ORDO:263440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050765"^^xsd:string ; a owl:Class ; rdfs:label "neuroacanthocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0050766 obo:IAO_0000115 "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-01-17T12:54:19Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3956"^^xsd:string, "MESH:D054546"^^xsd:string, "NCI:C84926"^^xsd:string, "OMIM:200150"^^xsd:string, "ORDO:2388"^^xsd:string, "SNOMEDCT_US_2021_03_01:26848004"^^xsd:string, "UMLS_CUI:C0393576"^^xsd:string ; oboInOwl:hasExactSynonym "Levine-Critchley syndrome"@en, "choreo-acanthocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050766"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choreaacanthocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050767 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:19:14Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050767"^^xsd:string ; a owl:Class ; rdfs:label "midface dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050768 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:26:46Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.8"^^xsd:string, "OMIM:604273"^^xsd:string, "ORDO:254913"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050768"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0050769 obo:IAO_0000115 "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:32:26Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3902"^^xsd:string, "OMIM:310465"^^xsd:string, "ORDO:2608"^^xsd:string ; oboInOwl:hasExactSynonym "NSX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050769"^^xsd:string ; a owl:Class ; rdfs:label "N syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050770 obo:IAO_0000115 "A liver disease that is characterized by the presence of multiple cysts located_in the liver."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:36:13Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1173"^^xsd:string ; oboInOwl:hasDbXref "GARD:9457"^^xsd:string, "OMIM:174050"^^xsd:string ; oboInOwl:hasExactSynonym "congenital cystic liver disease"@en, "congenital hepatic cyst"@en, "fibrocystic liver disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050770"^^xsd:string ; a owl:Class ; rdfs:label "polycystic liver disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050771 obo:IAO_0000115 "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:40:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7385"^^xsd:string, "MESH:D010673"^^xsd:string, "OMIM:171300"^^xsd:string ; oboInOwl:hasExactSynonym "phaeochromocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050771"^^xsd:string ; a owl:Class ; rdfs:label "pheochromocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060089 . obo:DOID_0050772 obo:IAO_0000115 "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-17T14:42:06Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:108600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050772"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050773 obo:IAO_0000115 "A pheochromocytoma that arises in extraadrenal sympathetic ganglia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:51:57Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010235"^^xsd:string, "NCI:C3308"^^xsd:string, "OMIM:115310"^^xsd:string, "OMIM:168000"^^xsd:string, "OMIM:601650"^^xsd:string, "OMIM:605373"^^xsd:string, "OMIM:614165"^^xsd:string, "OMIM:PS168000"^^xsd:string, "SNOMEDCT_US_2021_03_01:302833002"^^xsd:string, "UMLS_CUI:C0030421"^^xsd:string ; oboInOwl:hasExactSynonym "chemodectoma"@en, "glomus body tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050773"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "paraganglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050771, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050774 obo:IAO_0000115 "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T11:56:15Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4637"^^xsd:string, "MESH:C535288"^^xsd:string, "OMIM:266280"^^xsd:string, "ORDO:3021"^^xsd:string, "SNOMEDCT_US_2021_03_01:702413000"^^xsd:string, "UMLS_CUI:C1849453"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050774"^^xsd:string ; a owl:Class ; rdfs:label "rapadilino syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0050775 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T12:00:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:169"^^xsd:string, "MESH:C536637"^^xsd:string, "OMIM:269250"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050775"^^xsd:string ; a owl:Class ; rdfs:label "schneckenbecken dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0050776 obo:IAO_0000115 "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-02-21T12:06:40Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300716"^^xsd:string, "OMIM:PS309530"^^xsd:string, "ORDO:777"^^xsd:string ; oboInOwl:hasExactSynonym "non-specific X-linked mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050776"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "non-syndromic X-linked intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050889, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050777 obo:IAO_0000115 "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-04-04T11:25:32Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6802"^^xsd:string, "ICD10CM:Q04.3"^^xsd:string, "OMIM:PS213300"^^xsd:string, "ORDO:475"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050777"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Joubert syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060340, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0050778 obo:IAO_0000115 "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-04-04T11:28:16Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3436"^^xsd:string, "ICD9CM:753.1"^^xsd:string, "OMIM:PS249000"^^xsd:string, "ORDO:564"^^xsd:string, "SNOMEDCT_US_2021_03_01:204954005"^^xsd:string, "UMLS_CUI:C0311245"^^xsd:string ; oboInOwl:hasExactSynonym "Meckel-Gruber syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050778"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Meckel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060340 . obo:DOID_0050779 obo:IAO_0000115 "A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-06-24T12:50:06Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6683"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "MESH:C536079"^^xsd:string, "OMIM:PS236680"^^xsd:string, "ORDO:2189"^^xsd:string ; oboInOwl:hasExactSynonym "Salonen-Herva-Norio syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050779"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hydrolethalus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050780 obo:IAO_0000115 "A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-06-24T01:18:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:193"^^xsd:string, "KEGG:H00583"^^xsd:string, "OMIM:PS300000"^^xsd:string ; oboInOwl:hasExactSynonym "Opitz G/BBB Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050780"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "Opitz-GBBB syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0050781 obo:IAO_0000115 "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-07-17T10:18:00Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300855"^^xsd:string ; oboInOwl:hasExactSynonym "N-alpha-acetyltransferase"@en, "N-terminal acetyltransferase deficiency"@en, "OGDNS"@en, "X-linked Malformation and Infantile Lethality Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050781"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Ogden syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050782 obo:IAO_0000115 "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-10-23T12:51:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7918"^^xsd:string, "ICD10CM:E16.4"^^xsd:string, "MESH:D015043"^^xsd:string, "NCI:C3453"^^xsd:string, "SNOMEDCT_US_2021_03_01:267477002"^^xsd:string, "UMLS_CUI:C0043515"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050782"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Zollinger-Ellison syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050783 obo:IAO_0000115 "A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-07T11:22:49Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D020528"^^xsd:string, "SNOMEDCT_US_2021_03_01:425500002"^^xsd:string, "UMLS_CUI:C0751965"^^xsd:string ; oboInOwl:hasExactSynonym "SPMS"@en, "Secondary-progressive MS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050783"^^xsd:string ; a owl:Class ; rdfs:label "secondary progressive multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 ; skos:narrowMatch "MESH:D020528"^^xsd:string . obo:DOID_0050784 obo:IAO_0000115 "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-07T11:26:58Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D020528"^^xsd:string, "SNOMEDCT_US_2021_03_01:428700003"^^xsd:string, "UMLS_CUI:C0751964"^^xsd:string ; oboInOwl:hasExactSynonym "PPMS"@en, "Primary-progressive MS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050784"^^xsd:string ; a owl:Class ; rdfs:label "primary progressive multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 ; skos:narrowMatch "MESH:D020528"^^xsd:string . obo:DOID_0050785 obo:IAO_0000115 "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-07T11:32:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D020528"^^xsd:string, "SNOMEDCT_US_2021_03_01:724778008"^^xsd:string, "UMLS_CUI:C0393666"^^xsd:string ; oboInOwl:hasExactSynonym "PRMS"@en, "Progressive-relapsing MS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050785"^^xsd:string ; a owl:Class ; rdfs:label "progressive relapsing multiple sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 ; skos:narrowMatch "MESH:D020528"^^xsd:string . obo:DOID_0050786 obo:IAO_0000115 "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T10:28:51Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:137600"^^xsd:string, "OMIM:601631"^^xsd:string, "ORDO:98634"^^xsd:string ; oboInOwl:hasExactSynonym "IGDS"@en, "IRID 1"@en, "IRID 2"@en, "iridogoniodysgenesis type 1"@en, "iridogoniodysgenesis type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050786"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "iridogoniodysgenesis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_240, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050787 obo:IAO_0000115 "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T11:25:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3065"^^xsd:string, "OMIM:174900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050787"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim ; a owl:Class ; rdfs:label "juvenile polyposis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0050788 obo:IAO_0000115 "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T11:43:22Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8182"^^xsd:string, "KEGG:H00484"^^xsd:string, "OMIM:PS185800"^^xsd:string, "ORDO:3250"^^xsd:string ; oboInOwl:hasExactSynonym "Cushing's symphalangism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050788"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "proximal symphalangism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080001, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_0050789 obo:IAO_0000115 "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T11:50:00Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:186570"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050789"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "tarsal-carpal coalition syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050790 obo:IAO_0000115 "A bone development disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:21:56Z"^^xsd:string ; oboInOwl:hasDbXref "KEGG:H00467"^^xsd:string, "MESH:C537931"^^xsd:string, "OMIM:228900"^^xsd:string, "ORDO:2639"^^xsd:string ; oboInOwl:hasExactSynonym "Du Pan syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050790"^^xsd:string ; a owl:Class ; rdfs:label "fibular hypoplasia and complex brachydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_0050791 obo:IAO_0000115 "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:26:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8435"^^xsd:string, "MESH:C536665"^^xsd:string, "NCI:C120188"^^xsd:string, "OMIM:261550"^^xsd:string, "SNOMEDCT_US_2021_03_01:702358005"^^xsd:string, "UMLS_CUI:C1849930"^^xsd:string ; oboInOwl:hasExactSynonym "persistent Muellerian duct syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050791"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "persistent Mullerian duct syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3765, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000991 ] ) ] . obo:DOID_0050792 obo:IAO_0000115 "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:38:33Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563977"^^xsd:string, "OMIM:600195"^^xsd:string, "ORDO:2451"^^xsd:string, "SNOMEDCT_US_2021_03_01:699301008"^^xsd:string, "UMLS_CUI:C1838437"^^xsd:string ; oboInOwl:hasExactSynonym "VMCM"@en, "mucocutaneous venous malformations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050792"^^xsd:string ; a owl:Class ; rdfs:label "multiple cutaneous and mucosal venous malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, obo:DOID_866, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] ) ], [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001638 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050793 obo:IAO_0000115 "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T12:59:42Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609620"^^xsd:string, "OMIM:609621"^^xsd:string, "OMIM:609622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050793"^^xsd:string ; a owl:Class ; rdfs:label "short QT syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000287 ] . obo:DOID_0050794 obo:IAO_0000115 "A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T01:08:42Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:186500"^^xsd:string, "OMIM:610017"^^xsd:string, "OMIM:612961"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050794"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "multiple synostoses syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0050795 obo:IAO_0000115 "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-12T01:19:22Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11897"^^xsd:string, "OMIM:180020"^^xsd:string, "OMIM:610024"^^xsd:string, "OMIM:610356"^^xsd:string, "OMIM:610478"^^xsd:string, "OMIM:613093"^^xsd:string ; oboInOwl:hasExactSynonym "retinal cone dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050795"^^xsd:string ; a owl:Class ; rdfs:label "cone dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 ; skos:exactMatch "MESH:D000077765"^^xsd:string . obo:DOID_0050796 obo:IAO_0000115 "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-20T03:01:06Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:456"^^xsd:string, "MESH:C536010"^^xsd:string, "OMIM:200450"^^xsd:string, "SNOMEDCT_US_2021_03_01:718573009"^^xsd:string, "UMLS_CUI:C1860212"^^xsd:string ; oboInOwl:hasExactSynonym "ACHALASIA-MICROCEPHALY SYNDROME"@en, "Achalasia microcephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050796"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "achalasia microcephaly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0050797 obo:IAO_0000115 "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T10:47:41Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536662"^^xsd:string, "NCI:C170437"^^xsd:string, "OMIM:264470"^^xsd:string, "SNOMEDCT_US_2021_03_01:238069004"^^xsd:string, "UMLS_CUI:C1849678"^^xsd:string ; oboInOwl:hasExactSynonym "Peroxisomal acyl-coenzyme A oxidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050797"^^xsd:string ; a owl:Class ; rdfs:label "peroxisomal acyl-CoA oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_906 . obo:DOID_0050798 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:10:58Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050798"^^xsd:string ; a owl:Class ; rdfs:label "cerebral creatine deficiency syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0050799 obo:IAO_0000115 "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:10:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2578"^^xsd:string, "MESH:C537622"^^xsd:string, "OMIM:612736"^^xsd:string ; oboInOwl:hasExactSynonym "CEREBRAL CREATINE DEFICIENCY SYNDROME 2"@en, "GAMT deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050799"^^xsd:string ; a owl:Class ; rdfs:label "guanidinoacetate methyltransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050798 . obo:DOID_0050800 obo:IAO_0000115 "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:10:58Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300352"^^xsd:string ; oboInOwl:hasExactSynonym "CEREBRAL CREATINE DEFICIENCY SYNDROME 1"@en, "SLC6A8 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050800"^^xsd:string ; a owl:Class ; rdfs:label "creatine transporter deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050798 . obo:DOID_0050801 obo:IAO_0000115 "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-11-21T12:48:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9269"^^xsd:string, "OMIM:109200"^^xsd:string, "OMIM:300710"^^xsd:string, "OMIM:612421"^^xsd:string ; oboInOwl:hasExactSynonym "alopecia androgenetica, male pattern baldness"@en, "androgenetic alopecia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050801"^^xsd:string ; a owl:Class ; rdfs:label "androgenic alopecia"^^xsd:string ; rdfs:subClassOf obo:DOID_987 . obo:DOID_0050802 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T11:55:24Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615349"^^xsd:string, "ORDO:75496"^^xsd:string, "SNOMEDCT_US_2021_03_01:720861000"^^xsd:string, "UMLS_CUI:C1869122"^^xsd:string ; oboInOwl:hasExactSynonym "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2"@en, "Ehlers-Danlos syndrome progeroid type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "XGPT deficiency"@en, "defective biosynthesis of proteodermatan sulfate"@en, "xylosylprotein 4-beta-galactosyltransferase deficiency"@en ; oboInOwl:id "DOID:0050802"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050803 obo:IAO_0000115 "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050803"^^xsd:string ; a owl:Class ; rdfs:label "glioblastoma classical subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050804 obo:IAO_0000115 "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050804"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "glioblastoma proneural subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050805 obo:IAO_0000115 "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050805"^^xsd:string ; a owl:Class ; rdfs:label "glioblastoma mesenchymal subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050806 obo:IAO_0000115 "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T12:40:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050806"^^xsd:string ; a owl:Class ; rdfs:label "glioblastoma neural subtype"^^xsd:string ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0050807 obo:IAO_0000115 "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T02:28:58Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612713"^^xsd:string, "ORDO:168972"^^xsd:string ; oboInOwl:hasExactSynonym "KHRZ"@en, "intellectual disability, Kahrizi type"@en, "intellectual disability-cataract-coloboma-kyphosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050807"^^xsd:string ; a owl:Class ; rdfs:label "Kahrizi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050809 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T02:56:58Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:601492"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050809"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis IX"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_0050810 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-02T03:46:44Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C531633"^^xsd:string ; oboInOwl:hasExactSynonym "B7 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050810"^^xsd:string ; a owl:Class ; rdfs:label "biotin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_0050811 obo:IAO_0000115 "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-04T12:52:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1465"^^xsd:string, "GARD:1467"^^xsd:string, "ICD10CM:E25"^^xsd:string, "ICD9CM:255.2"^^xsd:string, "OMIM:201710"^^xsd:string, "OMIM:201810"^^xsd:string, "OMIM:201910"^^xsd:string, "OMIM:202010"^^xsd:string, "OMIM:202110"^^xsd:string, "ORDO:418"^^xsd:string, "SNOMEDCT_US_2021_03_01:154706003"^^xsd:string, "UMLS_CUI:C0701163"^^xsd:string ; oboInOwl:hasExactSynonym "adrenal hyperplasia 1"@en, "congenital lipoid adrenal hyperplasia"@en, "lipoid CAH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050811"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "congenital adrenal hyperplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1701, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0050812 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-04T01:24:55Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612847"^^xsd:string ; oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia Pakistani type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050812"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, Pakistani type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050813 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-04T01:30:01Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:143095"^^xsd:string ; oboInOwl:hasExactSynonym "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS"@en, "CHST3-Related Skeletal Dysplasia"@en, "Humero-spinal dysostosis with congenital heart disease"@en, "Humerospinal Dysostosis"@en, "Humerospinal dysostosis"@en, "Kozlowski Celermajer Tink syndrome"@en, "Omani Type"@en, "Spondyloepiphyseal Dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050813"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with congenital joint dislocations"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000982 ] . obo:DOID_0050814 obo:IAO_0000115 "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-05T12:12:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9679"^^xsd:string, "MESH:C536958"^^xsd:string, "OMIM:605282"^^xsd:string, "ORDO:363417"^^xsd:string, "SNOMEDCT_US_2021_03_01:777998000"^^xsd:string, "UMLS_CUI:C1854466"^^xsd:string ; oboInOwl:hasExactSynonym "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050814"^^xsd:string ; a owl:Class ; rdfs:label "temtamy preaxial brachydactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050815 obo:IAO_0000115 "An eye and adnexa disease that is located_in the adnexa of the eye."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-05T12:55:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eye adnexa disease"^^xsd:string ; owl:deprecated true . obo:DOID_0050816 obo:IAO_0000115 "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-05T01:10:52Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2781"^^xsd:string, "MESH:C536480"^^xsd:string, "OMIM:236730"^^xsd:string, "OMIM:615112"^^xsd:string, "OMIM:PS236730"^^xsd:string, "ORDO:2704"^^xsd:string ; oboInOwl:hasExactSynonym "Ochoa syndrome"@en, "hydronephrosis with peculiar facial expression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050816"^^xsd:string ; a owl:Class ; rdfs:label "urofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050817 obo:IAO_0000115 "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-11T01:49:54Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:181"^^xsd:string, "OMIM:248200"^^xsd:string, "OMIM:600110"^^xsd:string, "OMIM:603786"^^xsd:string ; oboInOwl:hasExactSynonym "STARGARDT DISEASE 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050817"^^xsd:string ; a owl:Class ; rdfs:label "Stargardt disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0050818 obo:IAO_0000115 "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-11T02:48:06Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:275350"^^xsd:string ; oboInOwl:hasExactSynonym "TCN2 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050818"^^xsd:string ; a owl:Class ; rdfs:label "transcobalamin II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050731 . obo:DOID_0050819 obo:IAO_0000115 "A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2013-12-11T03:11:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050819"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Matthew-Wood syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050820 obo:IAO_0000115 "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:35:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I44.3"^^xsd:string, "ICD9CM:426.10"^^xsd:string, "MESH:D054537"^^xsd:string, "NCI:C26703"^^xsd:string, "SNOMEDCT_US_2021_03_01:58547007"^^xsd:string, "UMLS_CUI:C0004245"^^xsd:string ; oboInOwl:hasExactSynonym "AV block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050820"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_10273 ; skos:exactMatch "MESH:D054537"^^xsd:string . obo:DOID_0050821 obo:IAO_0000115 "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:39:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050821"^^xsd:string ; a owl:Class ; rdfs:label "first-degree atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050820 . obo:DOID_0050822 obo:IAO_0000115 "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:39:42Z"^^xsd:string ; oboInOwl:hasExactSynonym "second-degree heart block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050822"^^xsd:string ; a owl:Class ; rdfs:label "second-degree atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050820 . obo:DOID_0050823 obo:IAO_0000115 "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:39:42Z"^^xsd:string ; oboInOwl:hasExactSynonym "complete AV block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050823"^^xsd:string ; a owl:Class ; rdfs:label "third-degree atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050820 . obo:DOID_0050824 obo:IAO_0000115 "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:47:54Z"^^xsd:string ; oboInOwl:hasExactSynonym "SA node"@en, "sinuatrial node"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050824"^^xsd:string ; a owl:Class ; rdfs:label "sinoatrial node disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000, obo:DOID_10273 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002351 ] ) ] . obo:DOID_0050825 obo:IAO_0000115 "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T01:53:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050825"^^xsd:string ; a owl:Class ; rdfs:label "endocardium disease"^^xsd:string ; rdfs:subClassOf obo:DOID_114 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002165 ] ) ] . obo:DOID_0050826 obo:IAO_0000115 "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T02:55:24Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13834"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I07"^^xsd:string, "ICD9CM:397.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:49699002"^^xsd:string, "UMLS_CUI:C0264776"^^xsd:string ; oboInOwl:hasExactSynonym "RH. tricuspid valve disease"@en, "Rheumatic disease of tricuspid valve"@en, "Rheumatic tricuspid valve disease"@en, "Tricuspid disease"@en, "disease of tricuspid valve"@en, "rheumatic tricuspid valve disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050826"^^xsd:string ; a owl:Class ; rdfs:label "tricuspid valve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4079 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002134 ] ) ] . obo:DOID_0050827 obo:IAO_0000115 "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T03:03:38Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9814"^^xsd:string ; oboInOwl:hasExactSynonym "rheumatic carditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050827"^^xsd:string ; a owl:Class ; rdfs:label "rheumatic heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4079, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0050828 obo:IAO_0000115 "A vascular disease that is located_in an artery."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-12T03:08:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050828"^^xsd:string ; a owl:Class ; rdfs:label "artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001637 ] ) ] . obo:DOID_0050829 obo:IAO_0000115 "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-18T12:20:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050829"^^xsd:string ; a owl:Class ; rdfs:label "pericardium disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002407 ] ) ] . obo:DOID_0050830 obo:IAO_0000115 "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-18T12:41:09Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D058729"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050830"^^xsd:string ; a owl:Class ; rdfs:label "peripheral artery disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 . obo:DOID_0050831 obo:IAO_0000115 "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-24T10:14:57Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10037"^^xsd:string, "MESH:C536841"^^xsd:string, "OMIM:604218"^^xsd:string ; oboInOwl:hasExactSynonym "FENIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050831"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "familial encephalopathy with neuroserpin inclusion bodies"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050832 obo:IAO_0000115 "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-24T10:29:22Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050832"^^xsd:string ; a owl:Class ; rdfs:label "pyrimidine metabolic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0050833 obo:IAO_0000115 "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-02-24T10:29:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:258900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050833"^^xsd:string ; a owl:Class ; rdfs:label "orotic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050832 . obo:DOID_0050834 obo:IAO_0000115 "A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T11:58:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:29"^^xsd:string, "MESH:D058747"^^xsd:string, "NCI:C75100"^^xsd:string, "OMIM:214800"^^xsd:string, "ORDO:138"^^xsd:string, "SNOMEDCT_US_2021_03_01:47535005"^^xsd:string, "UMLS_CUI:C0265354"^^xsd:string, "UMLS_CUI:C2936502"^^xsd:string ; oboInOwl:hasExactSynonym "CHARGE association"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050834"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "CHARGE syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 ; skos:exactMatch "MESH:D058747"^^xsd:string . obo:DOID_0050835 obo:IAO_0000115 "A dystonia that affects most or all of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11910"^^xsd:string, "DOID:11911"^^xsd:string, "DOID:11912"^^xsd:string, "DOID:14164"^^xsd:string, "DOID:5159"^^xsd:string, "DOID:531"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "ICD10CM:G24.2"^^xsd:string, "ICD9CM:333.6"^^xsd:string, "ICD9CM:333.8"^^xsd:string, "MESH:D004422"^^xsd:string, "MESH:D020821"^^xsd:string, "NCI:C34564"^^xsd:string, "NCI:C35437"^^xsd:string, "NCI:C35438"^^xsd:string, "NCI:C35527"^^xsd:string, "SNOMEDCT_US_2021_03_01:192852006"^^xsd:string, "SNOMEDCT_US_2021_03_01:192859002"^^xsd:string, "SNOMEDCT_US_2021_03_01:22451001"^^xsd:string, "SNOMEDCT_US_2021_03_01:230321007"^^xsd:string, "SNOMEDCT_US_2021_03_01:267584007"^^xsd:string, "UMLS_CUI:C0013423"^^xsd:string, "UMLS_CUI:C0154674"^^xsd:string, "UMLS_CUI:C0154675"^^xsd:string, "UMLS_CUI:C0393598"^^xsd:string, "UMLS_CUI:C0393601"^^xsd:string, "UMLS_CUI:C0752207"^^xsd:string ; oboInOwl:hasExactSynonym "familial dystonia"@en, "fragments of torsion dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Dystonia 12"^^xsd:string, "Dystonia 12"@en ; oboInOwl:id "DOID:0050835"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:C538001 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "generalized dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0050836 obo:IAO_0000115 "A dystonia that is localized to a specific part of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6458"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050836"^^xsd:string ; a owl:Class ; rdfs:label "focal dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_543 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001630 ] ) ] . obo:DOID_0050837 obo:IAO_0000115 "A dystonia that involves two or more unrelated body parts."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050837"^^xsd:string ; a owl:Class ; rdfs:label "multifocal dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0050838 obo:IAO_0000115 "A dystonia that affects two or more adjacent parts of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:13:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050838"^^xsd:string ; a owl:Class ; rdfs:label "segmental dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0050839 obo:IAO_0000115 "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050839"^^xsd:string ; a owl:Class ; rdfs:label "anismus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050840 obo:IAO_0000115 "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10668"^^xsd:string ; oboInOwl:hasExactSynonym "spasmodic torticollis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050840"^^xsd:string ; a owl:Class ; rdfs:label "cervical dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050841 obo:IAO_0000115 "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13467"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:333.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:52008007"^^xsd:string, "UMLS_CUI:C0154676"^^xsd:string ; oboInOwl:hasExactSynonym "organic writer's cramp"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050841"^^xsd:string ; a owl:Class ; rdfs:label "focal hand dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002398 ] . obo:DOID_0050842 obo:IAO_0000115 "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050842"^^xsd:string ; a owl:Class ; rdfs:label "oculogyric crisis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050843 obo:IAO_0000115 "A focal dystonia that is characterized by distortions of the mouth and tongue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050843"^^xsd:string ; a owl:Class ; rdfs:label "oromandibular dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050844 obo:IAO_0000115 "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:30:33Z"^^xsd:string ; oboInOwl:hasExactSynonym "laryngeal dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050844"^^xsd:string ; a owl:Class ; rdfs:label "spasmodic dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050845 obo:IAO_0000115 "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:33:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050845"^^xsd:string ; a owl:Class ; rdfs:label "cranio-facial dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836 . obo:DOID_0050846 obo:IAO_0000115 "A multifocal dystonia that involves the arm and leg on the same side of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-18T01:39:30Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050846"^^xsd:string ; a owl:Class ; rdfs:label "hemidystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050837 . obo:DOID_0050847 obo:IAO_0000115 "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-20T03:57:22Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G47.3"^^xsd:string, "ICD9CM:780.57"^^xsd:string, "MESH:D012891"^^xsd:string, "NCI:C26884"^^xsd:string, "SNOMEDCT_US_2021_03_01:206750008"^^xsd:string, "UMLS_CUI:C0037315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050847"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sleep apnea"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_0050848 obo:IAO_0000115 "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-03-20T03:57:22Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G47.33"^^xsd:string, "ICD9CM:327.23"^^xsd:string, "MESH:D020181"^^xsd:string, "NCI:C116337"^^xsd:string, "OMIM:107650"^^xsd:string, "SNOMEDCT_US_2021_03_01:194441007"^^xsd:string, "UMLS_CUI:C0520679"^^xsd:string ; oboInOwl:hasExactSynonym "obstructive sleep apnea syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050848"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "obstructive sleep apnea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050847 . obo:DOID_0050849 obo:IAO_0000115 "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:26:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050849"^^xsd:string ; a owl:Class ; rdfs:label "periampullary adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10022, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_0050850 obo:IAO_0000115 "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:33:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050850"^^xsd:string ; a owl:Class ; rdfs:label "diabetic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0050851 obo:IAO_0000115 "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:40:31Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050851"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "glomerulosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_0050852 obo:IAO_0000115 "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:46:27Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050852"^^xsd:string ; a owl:Class ; rdfs:label "limb ischemia"^^xsd:string ; rdfs:subClassOf obo:DOID_326 . obo:DOID_0050853 obo:IAO_0000115 "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:50:26Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050853"^^xsd:string ; a owl:Class ; rdfs:label "chronic venous insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_10128 . obo:DOID_0050854 obo:IAO_0000115 "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in NLRP3 on chromosome 1q44."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:53:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8472"^^xsd:string, "ICD10CM:M04.2"^^xsd:string, "MEDDRA:10064569"^^xsd:string, "MESH:D056587"^^xsd:string, "NCI:C119054"^^xsd:string, "OMIM:191900"^^xsd:string, "ORDO:575"^^xsd:string, "SNOMEDCT_US_2021_03_01:15123008"^^xsd:string, "UMLS_CUI:C0268390"^^xsd:string ; oboInOwl:hasExactSynonym "MWS"@en, "neutrophilic urticaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050854"^^xsd:string ; a owl:Class ; rdfs:label "Muckle-Wells syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050855 obo:IAO_0000115 "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T03:56:58Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050855"^^xsd:string ; a owl:Class ; rdfs:label "renal fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0050856 obo:IAO_0000115 "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-15T04:03:08Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050856"^^xsd:string ; a owl:Class ; rdfs:label "oppositional defiant disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_0050857 obo:IAO_0000115 "A syndrome that is characterized by sensorineural hearing loss and ovarian failure."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-24T01:56:35Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2542"^^xsd:string, "OMIM:233400"^^xsd:string, "OMIM:614129"^^xsd:string, "OMIM:614926"^^xsd:string, "OMIM:615300"^^xsd:string, "OMIM:PS233400"^^xsd:string, "ORDO:2855"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050857"^^xsd:string ; a owl:Class ; rdfs:label "Perrault syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050858 obo:IAO_0000115 "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-24T02:06:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6985"^^xsd:string, "MESH:C536026"^^xsd:string, "OMIM:602535"^^xsd:string, "ORDO:561"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050858"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Marshall-Smith syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050859 obo:IAO_0000115 "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-04-29T01:31:08Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050859"^^xsd:string ; a owl:Class ; rdfs:label "hemorrhagic cystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_0050860 obo:IAO_0000115 "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-05T03:14:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050860"^^xsd:string ; a owl:Class ; rdfs:label "colorectal adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4610, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_0050861 obo:IAO_0000115 "A colorectal carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-05T03:16:55Z"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5105"^^xsd:string, "SNOMEDCT_US_2021_03_01:408645001"^^xsd:string, "UMLS_CUI:C1319315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050861"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "colorectal adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080199, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050862 obo:IAO_0000115 "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-05T03:25:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050862"^^xsd:string ; a owl:Class ; rdfs:label "pyometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_345, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0050863 obo:IAO_0000115 "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-09T02:38:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050863"^^xsd:string ; a owl:Class ; rdfs:label "arteritic anterior ischemic optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12010 . obo:DOID_0050864 obo:IAO_0000115 "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-09T02:38:13Z"^^xsd:string ; oboInOwl:hasExactSynonym "non-arteritic anterior ischaemic optic neuropathy"@en, "nonarteritic anterior ischaemic optic neuropathy"@en, "nonarteritic anterior ischemic optic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050864"^^xsd:string ; a owl:Class ; rdfs:label "non-arteritic anterior ischemic optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12010 . obo:DOID_0050865 obo:IAO_0000115 "A head and neck squamous cell carcinoma that is located_in the tongue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-12T02:38:44Z"^^xsd:string ; oboInOwl:hasDbXref "NCI:C4648"^^xsd:string, "SNOMEDCT_US_2021_03_01:276952000"^^xsd:string, "UMLS_CUI:C0349566"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050865"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tongue squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5520, obo:DOID_8649, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001723 ] . obo:DOID_0050866 obo:IAO_0000115 "An oral cavity cancer that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-05-12T02:45:04Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7263"^^xsd:string ; oboInOwl:hasExactSynonym "mouth squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050866"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "oral squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_8618, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000165 ] . obo:DOID_0050867 obo:IAO_0000115 "A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-03T01:18:20Z"^^xsd:string ; oboInOwl:hasExactSynonym "opticoacoustic nerve atrophy with dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050867"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Jensen syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0050868 obo:IAO_0000115 "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:07:35Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050868"^^xsd:string ; a owl:Class ; rdfs:label "hepatocellular adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657, obo:DOID_916, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050869 obo:IAO_0000115 "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:08:30Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050869"^^xsd:string ; a owl:Class ; rdfs:label "villous adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_657 . obo:DOID_0050870 obo:IAO_0000115 "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:10:52Z"^^xsd:string ; oboInOwl:hasExactSynonym "bronchioalveolar carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050870"^^xsd:string ; a owl:Class ; rdfs:label "pulmonary adenocarcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8800, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050871 obo:IAO_0000115 "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:14:03Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050871"^^xsd:string ; a owl:Class ; rdfs:label "fibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123 ; skos:exactMatch "MESH:D005350"^^xsd:string . obo:DOID_0050872 obo:IAO_0000115 "A lung large cell carcinoma that derives_from neuroendocrine cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:17:11Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050872"^^xsd:string ; a owl:Class ; rdfs:label "large cell neuroendocrine carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4556 . obo:DOID_0050873 obo:IAO_0000115 "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:24:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2356"^^xsd:string, "MESH:D008224"^^xsd:string, "OMIM:151430"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050873"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "follicular lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0050875 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-06-25T05:31:24Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050875"^^xsd:string ; a owl:Class ; rdfs:label "obsolete small cell neuroendocrine carcinoma of the lung"^^xsd:string ; owl:deprecated true . obo:DOID_0050876 obo:IAO_0000115 "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-07-09T01:28:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6002"^^xsd:string, "MESH:D016767"^^xsd:string, "NCI:C84619"^^xsd:string, "SNOMEDCT_US_2021_03_01:717232005"^^xsd:string, "UMLS_CUI:C0162510"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050876"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Caroli disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4138 . obo:DOID_0050877 obo:IAO_0000115 "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-07-09T03:35:41Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:260370"^^xsd:string ; oboInOwl:hasExactSynonym "partial pancreatic agenesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050877"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "pancreatic agenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_0050878 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-07-29T01:17:13Z"^^xsd:string ; oboInOwl:hasExactSynonym "Factor I deficiency"@en, "Fibrinogen deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050878"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "obsolete CLONE OF congenital afibrinogenemia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0050879 obo:IAO_0000115 "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-04T01:52:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300623"^^xsd:string ; oboInOwl:hasExactSynonym "FXTAS syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050879"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "fragile X-associated tremor/ataxia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050953 . obo:DOID_0050880 obo:IAO_0000115 "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T12:57:12Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070076"^^xsd:string ; oboInOwl:hasDbXref "GARD:10727"^^xsd:string, "OMIM:610443"^^xsd:string, "ORDO:96169"^^xsd:string ; oboInOwl:hasExactSynonym "17q21.31 microdeletion syndrome"@en, "KANSL1-related intellectual disability syndrome"@en, "KdVS"@en, "Koolen-De Vries syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050880"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:label "Koolen de Vries syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050881 obo:IAO_0000115 "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T02:30:16Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS167320"^^xsd:string, "ORDO:52430"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD"@en, "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050881"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050882 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T03:51:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4953"^^xsd:string, "OMIM:600224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050882"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050883 obo:IAO_0000115 "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-06T04:09:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13264"^^xsd:string, "OMIM:614559"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050883"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "infantile cerebellar-retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ) ] . obo:DOID_0050884 obo:IAO_0000115 "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-07T11:44:31Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5287"^^xsd:string, "OMIM:615512"^^xsd:string ; oboInOwl:hasExactSynonym "Triose phosphate-isomerase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050884"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "triosephosphate isomerase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_4194 . obo:DOID_0050885 obo:IAO_0000115 "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-07T12:04:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12312"^^xsd:string, "OMIM:614732"^^xsd:string ; oboInOwl:hasExactSynonym "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050885"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "IMAGe syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0050886 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-07T12:18:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5372"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:275900"^^xsd:string, "ORDO:101000"^^xsd:string ; oboInOwl:hasExactSynonym "SPG20"@en, "autosomal recessive spastic paraplegia 20"@en, "autosomal recessive spastic paraplegia Troyer type"@en, "autosomal recessive spastic paraplegia type 20"@en, "childhood-onset spastic paraparesis with distal muscle wasting"@en, "hereditary spastic paraplegia 20"@en, "spastic paraplegia 20"@en, "spastic paraplegia type 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050886"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Troyer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0050887 obo:IAO_0000115 "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-11T03:58:35Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7784"^^xsd:string, "OMIM:107480"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050887"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Townes-Brocks syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050888 obo:IAO_0000115 "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-14T10:55:32Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050888"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_1059 . obo:DOID_0050889 obo:IAO_0000115 "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-14T10:57:36Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613192"^^xsd:string, "OMIM:614202"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050889"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_1059 . obo:DOID_0050890 obo:IAO_0000115 "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-08-14T03:29:17Z"^^xsd:string ; oboInOwl:hasExactSynonym "Synucleinopathies"@en, "alpha Synucleinopathies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050890"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "synucleinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0050891 obo:IAO_0000115 "An adrenal adenoma that is a benign tumor of the adrenal cortex."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-04T01:54:59Z"^^xsd:string ; oboInOwl:hasExactSynonym "adrenocortical adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050891"^^xsd:string ; a owl:Class ; rdfs:label "adrenal cortical adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_656 . obo:DOID_0050892 obo:IAO_0000115 "A malignant pheochromocytoma that is characterized by overproduction of adrenaline."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T01:01:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050892"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "adrenal gland pheochromocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080347 . obo:DOID_0050893 obo:IAO_0000115 "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T01:53:07Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050893"^^xsd:string ; a owl:Class ; rdfs:label "gallbladder adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080640, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050894 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:44:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050894"^^xsd:string ; a owl:Class ; rdfs:label "ameloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003843 ] ) ] ) ] ; skos:exactMatch "MESH:D000564"^^xsd:string . obo:DOID_0050895 obo:IAO_0000115 "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:46:51Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050895"^^xsd:string ; a owl:Class ; rdfs:label "bone ameloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_0050896 obo:IAO_0000115 "A bone carcinoma that derives_from squamous epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:50:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050896"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "bone squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_2762, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] . obo:DOID_0050897 obo:IAO_0000115 "A chondrosarcoma that is located_in bone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T02:55:07Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050897"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "bone chondrosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3371 . obo:DOID_0050898 obo:IAO_0000115 "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-09-11T03:42:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050898"^^xsd:string ; a owl:Class ; rdfs:label "phalanx chondroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094, obo:DOID_2602, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000138 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003221 ] . obo:DOID_0050899 obo:IAO_0000115 "A brain stem cancer that begins in the lower part of the brain on the floor of the skull."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:23:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050899"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "brain stem medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050902, obo:DOID_4203 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050902 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002298 ] ) ] . obo:DOID_0050900 obo:IAO_0000115 "A spinal chordoma that is located_in the sacrum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:25:16Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050900"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "sacrum chordoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4153 . obo:DOID_0050901 obo:IAO_0000115 "A brain oligodendroglioma located_in the corpus callosum."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:26:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050901"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "corpus callosum oligodendroglioma"^^xsd:string ; rdfs:subClassOf obo:DOID_3181, obo:DOID_3187, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000128 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002336 ] . obo:DOID_0050902 obo:IAO_0000115 "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-06T14:36:37Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060105"^^xsd:string, "DOID:168"^^xsd:string, "DOID:3858"^^xsd:string, "DOID:4981"^^xsd:string ; oboInOwl:hasDbXref "GARD:7005"^^xsd:string, "ICDO:9470/3"^^xsd:string, "MESH:D008527"^^xsd:string, "MESH:D018242"^^xsd:string, "NCI:C27294"^^xsd:string, "NCI:C3222"^^xsd:string, "NCI:C3716"^^xsd:string, "OMIM:155255"^^xsd:string, "SNOMEDCT_US_2021_03_01:189925001"^^xsd:string, "SNOMEDCT_US_2021_03_01:443333004"^^xsd:string, "UMLS_CUI:C0025149"^^xsd:string, "UMLS_CUI:C0206663"^^xsd:string, "UMLS_CUI:C1334410"^^xsd:string ; oboInOwl:hasExactSynonym "CNS PNET"@en, "CPNET"@en, "brain medulloblastoma"@en, "infratentorial primitive neuroectodermal tumor"@en, "localized primitive neuroectodermal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050902"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4706 . obo:DOID_0050903 obo:IAO_0000115 "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-08T16:00:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050903"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "parietal lobe ependymoma"^^xsd:string ; rdfs:subClassOf obo:DOID_14384 . obo:DOID_0050904 obo:IAO_0000115 "A salivary gland cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-08T16:52:58Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050904"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "salivary gland carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_8850, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001044 ] . obo:DOID_0050905 obo:IAO_0000115 "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-09T14:18:08Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050905"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "inflammatory myofibroblastic tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3350 . obo:DOID_0050906 obo:IAO_0000115 "A sensory organ benign neoplasm that is located in the eye conjunctiva."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T11:47:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050906"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival nevus"^^xsd:string ; rdfs:subClassOf obo:DOID_0060096, obo:DOID_4251, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_0050907 obo:IAO_0000115 "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T12:37:37Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050907"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mixed extragonadal germ cell cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3306 . obo:DOID_0050908 obo:IAO_0000115 "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T12:51:33Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7132"^^xsd:string, "MESH:D009190"^^xsd:string, "OMIM:614286"^^xsd:string, "UMLS_CUI:C2713368"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050908"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "myelodysplastic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_4960 . obo:DOID_0050909 obo:IAO_0000115 "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:17:40Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:137245"^^xsd:string ; oboInOwl:hasExactSynonym "mucosa-associated lymphoid tissue lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050909"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "MALT lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050748 . obo:DOID_0050910 obo:IAO_0000115 "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:41:01Z"^^xsd:string ; oboInOwl:hasExactSynonym "caecum adenoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050910"^^xsd:string ; a owl:Class ; rdfs:label "cecum adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1517, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050911 obo:IAO_0000115 "An appendix cancer that has_material_basis_in neurodendocrine cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:45:41Z"^^xsd:string ; oboInOwl:hasExactSynonym "appendix carcinoid endocrine tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050911"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "appendix carcinoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_11239 . obo:DOID_0050912 obo:IAO_0000115 "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T14:56:27Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050912"^^xsd:string ; a owl:Class ; rdfs:label "colon adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_235, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] . obo:DOID_0050913 obo:IAO_0000115 "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:00:10Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050913"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "large intestine adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_5672, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050914 obo:IAO_0000115 "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:07:10Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050914"^^xsd:string ; a owl:Class ; rdfs:label "large intestine adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4610, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000059 ] . obo:DOID_0050915 obo:IAO_0000115 "An rectal neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:09:51Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050915"^^xsd:string ; a owl:Class ; rdfs:label "rectum adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1984, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050916 obo:IAO_0000115 "A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:13:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050916"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "bronchus mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] . obo:DOID_0050917 obo:IAO_0000115 "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-13T15:36:11Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050917"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "lung combined type small cell adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_5421, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_0050918 obo:IAO_0000115 "A vaginal cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:37:19Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050918"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "vaginal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_119, obo:DOID_305, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_0050919 obo:IAO_0000115 "A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:42:42Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050919"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "trachea mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11920, obo:DOID_4531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] . obo:DOID_0050920 obo:IAO_0000115 "A tonsil cancer that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:48:00Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050920"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "tonsil squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_8858, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002372 ] . obo:DOID_0050921 obo:IAO_0000115 "A pharynx cancer that has_material_basis_in squamous cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:54:00Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050921"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "pharynx squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060119, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006562 ] . obo:DOID_0050922 obo:IAO_0000115 "A gastrointestinal system cancer that has_material_basis_in epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T11:56:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050922"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "gastrointestinal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_3119, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_0050923 obo:IAO_0000115 "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T12:26:31Z"^^xsd:string ; oboInOwl:hasExactSynonym "SETTLE tumor"@en, "SETTLE tumour"@en, "spindle epithelial tumour with thymus-like differentiation tumour"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050923"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "spindle epithelial tumor with thymus-like differentiation tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_3963 . obo:DOID_0050924 obo:IAO_0000115 "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T12:38:23Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050924"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "striated muscle rhabdoid tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_4045 . obo:DOID_0050925 obo:IAO_0000115 "A small intestine cancer that has_material_basis_in cells of the neuroendocrine system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T12:58:08Z"^^xsd:string ; oboInOwl:hasBroadSynonym "'intestinal carcinoid tumour'"^^xsd:string ; oboInOwl:hasDbXref "OMIM:114900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050925"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "small intestine carcinoid neuroendocrine tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 . obo:DOID_0050926 obo:IAO_0000115 "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:00:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050926"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "jejunal adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_13499, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050927 obo:IAO_0000115 "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:02:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050927"^^xsd:string ; a owl:Class ; rdfs:label "duodenum adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1737, obo:DOID_657, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002114 ] . obo:DOID_0050928 obo:IAO_0000115 "An ovarian cancer that has_material_basis_in melanoctyes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:27:44Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050928"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_2394 . obo:DOID_0050929 obo:IAO_0000115 "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T13:51:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050929"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mucosal melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1909, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000344 ] . obo:DOID_0050930 obo:IAO_0000115 "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T14:04:40Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050930"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "sublingual gland adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8849 . obo:DOID_0050931 obo:IAO_0000115 "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T14:09:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050931"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "parotid gland adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9036 . obo:DOID_0050932 obo:IAO_0000115 "A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T15:13:36Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050932"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "lung mucoepidermoid carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_0050933 obo:IAO_0000115 "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T15:51:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050933"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian serous carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001 . obo:DOID_0050934 obo:IAO_0000115 "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T15:54:52Z"^^xsd:string ; oboInOwl:hasExactSynonym "clear-cell ovarian carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050934"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian clear cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4001 . obo:DOID_0050935 obo:IAO_0000115 "An extracranial neuroblastoma that has_material_basis_in immature nerve cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-21T16:02:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050935"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "cervical neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_371 . obo:DOID_0050936 obo:IAO_0000115 "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T10:25:45Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050936"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "extra-adrenal pheochromocytoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080347 . obo:DOID_0050937 obo:IAO_0000115 "A retroperitoneal cancer that has_material_basis_in immature nerve cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T11:18:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050937"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "retroperitoneal neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5875 . obo:DOID_0050938 obo:IAO_0000115 "A breast carcinoma that derives_from breast lobules (milk glands)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T13:05:34Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050938"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "breast lobular carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_0050939 obo:IAO_0000115 "A uterine corpus cancer that is derives_from the inner lining of the uterus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-22T14:26:22Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050939"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "uterine corpus endometrial carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_9460 . obo:DOID_0050940 obo:IAO_0000115 "An endocervical carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2014-10-24T15:51:48Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050940"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "endocervical adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_299, obo:DOID_7519, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0050941 obo:IAO_0000115 "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611302"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050941"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050942 obo:IAO_0000115 "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050942"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050943 obo:IAO_0000115 "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613672"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050943"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050944 obo:IAO_0000115 "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614487"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050944"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050945 obo:IAO_0000115 "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:108650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050945"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050946 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:13:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4910"^^xsd:string, "MESH:C536787"^^xsd:string, "OMIM:270550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050946"^^xsd:string ; a owl:Class ; rdfs:label "Charlevoix-Saguenay spastic ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0050947 obo:IAO_0000115 "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-01T12:10:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:241530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050947"^^xsd:string ; a owl:Class ; rdfs:label "hereditary hypophosphatemic rickets with hypercalciuria"^^xsd:string ; rdfs:subClassOf obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050948 obo:IAO_0000115 "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-01T12:10:30Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:193100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050948"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypophosphatemic rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0050949 obo:IAO_0000115 "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-01T12:10:33Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:241520"^^xsd:string, "OMIM:613312"^^xsd:string, "ORDO:289176"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050949"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive hypophosphatemic rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050950 obo:IAO_0000115 "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T14:21:08Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS213200"^^xsd:string, "ORDO:1172"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050950"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050753, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050951 obo:IAO_0000115 "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T14:38:17Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6614"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050951"^^xsd:string ; a owl:Class ; rdfs:label "hereditary ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0050952 obo:IAO_0000115 "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T14:39:34Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050952"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050951 . obo:DOID_0050953 obo:IAO_0000115 "A hereditary ataxia that is characterized by X-linked inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T15:41:09Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050953"^^xsd:string ; a owl:Class ; rdfs:label "X-linked hereditary ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050951, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0050954 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4071"^^xsd:string, "OMIM:164400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050954"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050955 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:183090"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050955"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050956 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10351"^^xsd:string, "OMIM:183086"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050956"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050957 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9970"^^xsd:string, "MESH:D020754"^^xsd:string, "OMIM:600223"^^xsd:string, "ORDO:98765"^^xsd:string, "SNOMEDCT_US_2021_03_01:715755008"^^xsd:string, "UMLS_CUI:C0752122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050957"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050958 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:07:27Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:164500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050958"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050959 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:608768"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050959"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050960 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10474"^^xsd:string, "OMIM:603516"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050960"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050961 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:604432"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050961"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050962 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:604326"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050962"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050963 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605259"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050963"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050964 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605361"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050964"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050965 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050966"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606658"^^xsd:string ; oboInOwl:hasExactSynonym "spinocerebellar ataxia type 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050965"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 15"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050966 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050966"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spinocerebellar ataxia type 16"^^xsd:string ; owl:deprecated true . obo:DOID_0050967 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10469"^^xsd:string, "OMIM:607136"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050967"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 17"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050968 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-05T16:12:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12372"^^xsd:string, "OMIM:604121"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050968"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cerebellar ataxia, deafness and narcolepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050969 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9976"^^xsd:string, "OMIM:607458"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050969"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050970 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12365"^^xsd:string, "OMIM:607346"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050970"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 19/22"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050971 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9997"^^xsd:string, "OMIM:608687"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050971"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 20"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050972 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9999"^^xsd:string, "OMIM:607454"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050972"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050973 obo:IAO_0000115 "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:610245"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050973"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 23"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050974 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9996"^^xsd:string, "MESH:C537202"^^xsd:string, "OMIM:608703"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050974"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 25"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050975 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9995"^^xsd:string, "MESH:C537203"^^xsd:string, "OMIM:609306"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050975"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 26"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050976 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in mutation in the FGF14 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609307"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050976"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 27"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050977 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:610246"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050977"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 28"^^xsd:string ; rdfs:subClassOf obo:DOID_1441, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0050978 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:117360"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050978"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 29"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050979 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4950"^^xsd:string, "OMIM:613371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050979"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 30"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050980 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:117210"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050980"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 31"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050981 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:133190"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050981"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 34"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050982 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613908"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050982"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 35"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050983 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614153"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050983"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 36"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050984 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615945"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050984"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 37"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050985 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615957"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050985"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 38"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050986 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in muation in the CCDC88C gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:11:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616053"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050986"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 40"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050987 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:24:06Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050987"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukoencephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050988 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:24:06Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050988"^^xsd:string ; a owl:Class ; rdfs:label "GRID2-related spinocerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050989 obo:IAO_0000115 "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:160120"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050989"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050990 obo:IAO_0000115 "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:108500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050990"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050991 obo:IAO_0000115 "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606554"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050991"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050992 obo:IAO_0000115 "An episodic ataxia that is characterized by vertigo and diplopia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050992"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050993 obo:IAO_0000115 "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613855"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050993"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050994 obo:IAO_0000115 "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612656"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050994"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_963 . obo:DOID_0050995 obo:IAO_0000115 "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:26:26Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611907"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050995"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_963, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050996 obo:IAO_0000115 "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T13:38:56Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616055"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050996"^^xsd:string ; a owl:Class ; rdfs:label "episodic ataxia type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_963, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0050997 obo:IAO_0000115 "An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T13:48:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1998"^^xsd:string, "OMIM:224050"^^xsd:string, "OMIM:610185"^^xsd:string, "OMIM:613227"^^xsd:string, "OMIM:615268"^^xsd:string ; oboInOwl:hasExactSynonym "CAMRQ"@en, "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)"^^xsd:string, "Uner Tan syndrome"^^xsd:string, "VLDLR Cerebellar Hypoplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050997"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia, mental retardation and dysequlibrium syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0050998 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:08:24Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614756"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050998"^^xsd:string ; a owl:Class ; rdfs:label "nonprogressive cerebellar ataxia with mental retardation"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0050999 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:43:23Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613728"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0050999"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0060000 obo:IAO_0000115 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents."^^xsd:string ; oboInOwl:hasDbXref "GARD:6337"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060000"^^xsd:string ; a owl:Class ; rdfs:label "infective endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_10314, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0060001 obo:IAO_0000115 "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060001"^^xsd:string ; a owl:Class ; rdfs:label "withdrawal disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_303, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0060002 obo:IAO_0000115 "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue."^^xsd:string ; oboInOwl:hasExactSynonym "Quincke edema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060002"^^xsd:string ; a owl:Class ; rdfs:label "C1 inhibitor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060004 obo:IAO_0000115 "An autoimmune hypersensitivity disease located_in the central nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060004"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of central nervous system"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_438 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_0060005 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060005"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of endocrine system"^^xsd:string ; rdfs:subClassOf obo:DOID_28, obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000949 ] ) ] . obo:DOID_0060006 obo:IAO_0000115 "A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060006"^^xsd:string ; a owl:Class ; rdfs:label "obsolete artemis deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_0060007 obo:IAO_0000115 "A severe combined immunodeficiency that affects the development and function of T cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060007"^^xsd:string ; a owl:Class ; rdfs:label "CD3zeta deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060008 obo:IAO_0000115 "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600802"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060008"^^xsd:string ; a owl:Class ; rdfs:label "janus kinase-3 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060009 obo:IAO_0000115 "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604571"^^xsd:string ; oboInOwl:hasExactSynonym "BLS, TYPE I"@en, "BLSI"@en, "HLA CLASS I DEFICIENCY"@en, "bare lymphocyte syndrome type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060009"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "MHC class I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060010 obo:IAO_0000115 "A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly."^^xsd:string ; oboInOwl:hasDbXref "GARD:8198"^^xsd:string, "ICD10CM:D81.8"^^xsd:string, "OMIM:603554"^^xsd:string ; oboInOwl:hasExactSynonym "combined immunodeficiency with hypereosinophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060010"^^xsd:string ; a owl:Class ; rdfs:label "Omenn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060011 obo:IAO_0000115 "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060011"^^xsd:string ; a owl:Class ; rdfs:label "recombinase activating gene 1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060012 obo:IAO_0000115 "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060012"^^xsd:string ; a owl:Class ; rdfs:label "recombinase activating gene 2 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060013 obo:IAO_0000115 "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5811"^^xsd:string ; oboInOwl:hasDbXref "GARD:5618"^^xsd:string, "MESH:D053632"^^xsd:string, "NCI:C4682"^^xsd:string, "OMIM:300400"^^xsd:string, "SNOMEDCT_US_2021_03_01:203592006"^^xsd:string, "UMLS_CUI:C1279481"^^xsd:string ; oboInOwl:hasExactSynonym "SCID-X1"@en, "X-Linked Severe Combined Immunodeficiency"@en, "XSCID"@en, "gamma chain deficiency"@en, "thymic epithelial hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060013"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "X-linked severe combined immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060014 obo:IAO_0000115 "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060014"^^xsd:string ; a owl:Class ; rdfs:label "CD45 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060015 obo:IAO_0000115 "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."^^xsd:string ; oboInOwl:hasExactSynonym "IL-7R"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060015"^^xsd:string ; a owl:Class ; rdfs:label "interleukin-7 receptor alpha deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060016 obo:IAO_0000115 "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development."^^xsd:string ; oboInOwl:hasExactSynonym "CD3D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060016"^^xsd:string ; a owl:Class ; rdfs:label "CD3delta deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060017 obo:IAO_0000115 "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060017"^^xsd:string ; a owl:Class ; rdfs:label "CD3epsilon deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060018 obo:IAO_0000115 "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060018"^^xsd:string ; a owl:Class ; rdfs:label "CD3gamma deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060019 obo:IAO_0000115 "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615401"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060019"^^xsd:string ; a owl:Class ; rdfs:label "coronin-1A deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_627 . obo:DOID_0060020 obo:IAO_0000115 "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1226"^^xsd:string ; oboInOwl:hasDbXref "GARD:8625"^^xsd:string, "MESH:C538361"^^xsd:string, "NCI:C27070"^^xsd:string, "OMIM:267500"^^xsd:string, "SNOMEDCT_US_2021_03_01:111584000"^^xsd:string, "UMLS_CUI:C0272167"^^xsd:string ; oboInOwl:hasExactSynonym "De Vaal disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "aleukocytosis"@en ; oboInOwl:id "DOID:0060020"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "reticular dysgenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000777 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000086 ] . obo:DOID_0060021 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606593"^^xsd:string ; oboInOwl:hasExactSynonym "LIG4 Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060021"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "DNA ligase IV deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001510 ] . obo:DOID_0060022 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE."^^xsd:string ; oboInOwl:hasDbXref "OMIM:308230"^^xsd:string ; oboInOwl:hasExactSynonym "HIGMX-1"@en, "X-linked hyper-IgM syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060022"^^xsd:string ; a owl:Class ; rdfs:label "CD40 ligand deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060023 obo:IAO_0000115 "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84783"^^xsd:string, "OMIM:606843"^^xsd:string, "ORDO:101090"^^xsd:string ; oboInOwl:hasExactSynonym "CD40 deficiency"@en, "hyper-IgM syndrome due to CD40 deficiency"@en, "type 3 hyper-IgM immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060023"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper IgM type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080544, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060024 obo:IAO_0000115 "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060024"^^xsd:string ; a owl:Class ; rdfs:label "lambda 5 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060025 obo:IAO_0000115 "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor."^^xsd:string ; oboInOwl:hasDbXref "GARD:10197"^^xsd:string, "MESH:D017098"^^xsd:string, "OMIM:137100"^^xsd:string, "OMIM:269650"^^xsd:string, "OMIM:609529"^^xsd:string, "ORDO:69127"^^xsd:string, "SNOMEDCT_US_2021_03_01:29260007"^^xsd:string, "UMLS_CUI:C0162538"^^xsd:string ; oboInOwl:hasExactSynonym "IgA deficiency"@en, "gamma-A-globulin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060025"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "immunoglobulin alpha deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060026 obo:IAO_0000115 "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "IgB deficiency"@en ; oboInOwl:id "DOID:0060026"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin beta deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2115 . obo:DOID_0060027 obo:IAO_0000115 "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613502"^^xsd:string ; oboInOwl:hasExactSynonym "B cell linker protein deficiency"@en, "B-cell linker protein deficiency"@en, "BLNK deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060027"^^xsd:string ; a owl:Class ; rdfs:label "agammaglobulinemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2583, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060028 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma."^^xsd:string ; oboInOwl:hasExactSynonym "thymoma with hypogammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060028"^^xsd:string ; a owl:Class ; rdfs:label "Good syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_628 . obo:DOID_0060029 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060029"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of exocrine system"^^xsd:string ; rdfs:subClassOf obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002330 ] ) ] . obo:DOID_0060030 obo:IAO_0000115 "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060030"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of eyes, ear, nose and throat"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_438 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0060031 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060031"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of gastrointestinal tract"^^xsd:string ; rdfs:subClassOf obo:DOID_417, obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001007 ] ) ] . obo:DOID_0060032 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060032"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of musculoskeletal system"^^xsd:string ; rdfs:subClassOf obo:DOID_17, obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_0060033 obo:IAO_0000115 "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060033"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of peripheral nervous system"^^xsd:string ; rdfs:subClassOf obo:DOID_438, obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] ) ] . obo:DOID_0060035 obo:IAO_0000115 "A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060035"^^xsd:string ; a owl:Class ; rdfs:label "obsolete medical disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0060036 obo:IAO_0000115 "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060036"^^xsd:string ; a owl:Class ; rdfs:label "intrinsic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0060037 obo:IAO_0000115 "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060037"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "developmental disorder of mental health"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_0060038 obo:IAO_0000115 "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060038"^^xsd:string ; a owl:Class ; rdfs:label "specific developmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060037 . obo:DOID_0060039 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060039"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of skin and connective tissue"^^xsd:string ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_37, obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] ) ] . obo:DOID_0060040 obo:IAO_0000115 "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1208"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:299.80"^^xsd:string, "UMLS_CUI:C0154451"^^xsd:string ; oboInOwl:hasExactSynonym "Pervasive Child Development Disorders"^^xsd:string, "pervasive development disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060040"^^xsd:string ; a owl:Class ; rdfs:label "pervasive developmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060037 . obo:DOID_0060041 obo:IAO_0000115 "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior."^^xsd:string ; oboInOwl:hasDbXref "GARD:10248"^^xsd:string, "MESH:D000067877"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060041"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "autism spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060040 . obo:DOID_0060042 obo:IAO_0000115 "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism."^^xsd:string ; oboInOwl:hasExactSynonym "PDD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060042"^^xsd:string ; a owl:Class ; rdfs:label "atypical autism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060041 . obo:DOID_0060043 obo:IAO_0000115 "A disease of mental health that involves the impairment in normal sexual functioning."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060043"^^xsd:string ; a owl:Class ; rdfs:label "sexual health disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_0060044 obo:IAO_0000115 "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060044"^^xsd:string ; a owl:Class ; rdfs:label "paraphilia disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_0060045 obo:IAO_0000115 "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060045"^^xsd:string ; a owl:Class ; rdfs:label "Munchausen by proxy"^^xsd:string ; rdfs:subClassOf obo:DOID_1766 . obo:DOID_0060046 obo:IAO_0000115 "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060046"^^xsd:string ; a owl:Class ; rdfs:label "aphasia"^^xsd:string ; rdfs:subClassOf obo:DOID_93 ; skos:exactMatch "MESH:D001037"^^xsd:string . obo:DOID_0060047 obo:IAO_0000115 "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060047"^^xsd:string ; a owl:Class ; rdfs:label "writing disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8927 . obo:DOID_0060048 obo:IAO_0000115 "A specific phobia that involves an irrational fear of contracting a disease."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060048"^^xsd:string ; a owl:Class ; rdfs:label "nosophobia"^^xsd:string ; rdfs:subClassOf obo:DOID_599 . obo:DOID_0060049 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060049"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of urogenital tract"^^xsd:string ; rdfs:subClassOf obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004122 ] ) ] . obo:DOID_0060050 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060050"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "autoimmune disease of blood"^^xsd:string ; rdfs:subClassOf obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000178 ] ) ] . obo:DOID_0060051 obo:IAO_0000115 "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060051"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune disease of cardiovascular system"^^xsd:string ; rdfs:subClassOf obo:DOID_1287, obo:DOID_417 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_417 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ) ] . obo:DOID_0060052 obo:IAO_0000115 "A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060052"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neurological disorder"^^xsd:string ; owl:deprecated true . obo:DOID_0060053 obo:IAO_0000115 "A neuropathy that is located_in nerves of the peripheral nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060053"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peripheral neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_0060054 obo:IAO_0000115 "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060054"^^xsd:string ; a owl:Class ; rdfs:label "autonomic peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_0060055 obo:IAO_0000115 "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:16:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3242"^^xsd:string, "MESH:C562509"^^xsd:string, "NCI:C118786"^^xsd:string, "OMIM:119500"^^xsd:string, "OMIM:263650"^^xsd:string, "ORDO:1300"^^xsd:string, "ORDO:294963"^^xsd:string, "SNOMEDCT_US_2021_03_01:205820002"^^xsd:string, "UMLS_CUI:C0265259"^^xsd:string ; oboInOwl:hasExactSynonym "facio-genito-popliteal syndrome"@en, "popliteal web syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060055"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "popliteal pterygium syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060056 obo:IAO_0000115 "An immune system disease that has_material_basis_in abnormal immune responses."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060056"^^xsd:string ; a owl:Class ; rdfs:label "hypersensitivity reaction disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2914 . obo:DOID_0060057 obo:IAO_0000115 "A food allergy to wheat that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance."^^xsd:string ; oboInOwl:hasExactSynonym "allergy to gluten"@en, "gluten allergic reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060057"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "gluten allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060058 obo:IAO_0000115 "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1033"^^xsd:string, "DOID:353"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C85.9"^^xsd:string, "ICDO:9590/3"^^xsd:string, "MESH:D008223"^^xsd:string, "NCI:C3208"^^xsd:string, "NCI:C7065"^^xsd:string, "SNOMEDCT_US_2021_03_01:118600007"^^xsd:string, "SNOMEDCT_US_2021_03_01:414628006"^^xsd:string, "UMLS_CUI:C0024299"^^xsd:string, "UMLS_CUI:C0598798"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoid cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060058"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_2531, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001744 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] ) ] . obo:DOID_0060060 obo:IAO_0000115 "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008228"^^xsd:string, "OMIM:605027"^^xsd:string, "ORDO:547"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060060"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "non-Hodgkin lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058 . obo:DOID_0060061 obo:IAO_0000115 "A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:6226"^^xsd:string, "MESH:D016410"^^xsd:string ; oboInOwl:hasExactSynonym "cutaneous T-cell lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060061"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cutaneous T cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050749 . obo:DOID_0060062 obo:IAO_0000115 "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease."^^xsd:string ; oboInOwl:hasDbXref "OMIM:162000"^^xsd:string, "OMIM:613092"^^xsd:string, "OMIM:614227"^^xsd:string, "ORDO:209886"^^xsd:string, "ORDO:217330"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060062"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "familial juvenile hyperuricemic nephropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060063 obo:IAO_0000115 "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production."^^xsd:string ; oboInOwl:hasDbXref "GARD:9456"^^xsd:string, "OMIM:300751"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked sideroblastic anaemia"@en, "X-linked sideroblastic anemia"@en, "XLSA"@en, "sideroblastic anaemia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060063"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "sideroblastic anemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060064 obo:IAO_0000115 "A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum."^^xsd:string ; oboInOwl:hasExactSynonym "ASAT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060064"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "obsolete sideroblastic anemia with spinocerebellar ataxia"^^xsd:string ; owl:deprecated true . obo:DOID_0060065 obo:IAO_0000115 "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:205950"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2"@en, "pyridoxine-refractory autosomal recessive sideroblastic anaemia"@en, "pyridoxine-refractory autosomal recessive sideroblastic anemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060065"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "autosomal recessive pyridoxine-refractory sideroblastic anemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060066 obo:IAO_0000115 "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:206000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060066"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "pyridoxine-responsive sideroblastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8955 . obo:DOID_0060067 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:7343"^^xsd:string, "OMIM:557000"^^xsd:string ; oboInOwl:hasExactSynonym "Pearson Marrow-Pancreas Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060067"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Pearson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0060068 obo:IAO_0000115 "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-04-13T03:14:26Z"^^xsd:string ; oboInOwl:hasExactSynonym "marantic endocarditis"^^xsd:string, "non-bacterial thrombotic endocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060068"^^xsd:string ; a owl:Class ; rdfs:label "nonbacterial thrombotic endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_10314, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000262 ] . obo:DOID_0060069 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-04-15T11:41:26Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060069"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Bacillus cereus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_0060071 obo:IAO_0000115 "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-05-11T12:18:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060071"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim ; a owl:Class ; rdfs:label "pre-malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_14566 . obo:DOID_0060072 obo:IAO_0000115 "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-05-11T12:18:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060072"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim ; a owl:Class ; rdfs:label "benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_14566 ; owl:disjointWith obo:DOID_162 . obo:DOID_0060073 obo:IAO_0000115 "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-05-11T01:05:14Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060073"^^xsd:string ; a owl:Class ; rdfs:label "lymphatic system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060083, obo:DOID_75 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001744 ] ) ] . obo:DOID_0060074 obo:IAO_0000115 "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:19:28Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060074"^^xsd:string ; a owl:Class ; rdfs:label "ductal carcinoma in situ"^^xsd:string ; rdfs:subClassOf obo:DOID_8791 . obo:DOID_0060075 obo:IAO_0000115 "A breast cancer that is characterized by the presence of estrogen receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060075"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "estrogen-receptor positive breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060076 obo:IAO_0000115 "A breast cancer that is characterized by the absence of estrogen receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060076"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "estrogen-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060077 obo:IAO_0000115 "A breast cancer that is characterized by the presence of progesterone receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060077"^^xsd:string ; a owl:Class ; rdfs:label "progesterone-receptor positive breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060078 obo:IAO_0000115 "A breast cancer that is characterized by the absence of progesterone receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060078"^^xsd:string ; a owl:Class ; rdfs:label "progesterone-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060079 obo:IAO_0000115 "A breast cancer that is characterized by the presence of Her2 receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060079"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "Her2-receptor positive breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060080 obo:IAO_0000115 "A breast cancer that is characterized by the absence of Her2 receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060080"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "Her2-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060081 obo:IAO_0000115 "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T12:23:02Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060081"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "triple-receptor negative breast cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1612 . obo:DOID_0060082 obo:IAO_0000115 "A thoracic benign neoplasm that is characterized by lack of malignancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T01:02:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060082"^^xsd:string ; a owl:Class ; rdfs:label "breast benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060097, obo:DOID_3463 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] ) ] . obo:DOID_0060083 obo:IAO_0000115 "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-06-08T01:11:18Z"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9392/3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060083"^^xsd:string ; a owl:Class ; rdfs:label "immune system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_2914 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002405 ] ) ] . obo:DOID_0060084 obo:IAO_0000115 "A benign neoplasm that is classified by the type of cell or tissue from which it is derived."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T11:59:48Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060084"^^xsd:string ; a owl:Class ; rdfs:label "cell type benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060072 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000000 ] ) ] . obo:DOID_0060085 obo:IAO_0000115 "A benign neoplasm that is classified by the organ system from which it is arising from."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:12:23Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060085"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "organ system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060072 . obo:DOID_0060086 obo:IAO_0000115 "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:20:52Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060086"^^xsd:string ; a owl:Class ; rdfs:label "female reproductive organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622, obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000474 ] ) ] . obo:DOID_0060087 obo:IAO_0000115 "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:20:52Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060087"^^xsd:string ; a owl:Class ; rdfs:label "male reproductive organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622, obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000079 ] ) ] . obo:DOID_0060088 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the vestibular gland."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T12:36:54Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060088"^^xsd:string ; a owl:Class ; rdfs:label "vestibular gland benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0011826 ] ) ] . obo:DOID_0060089 obo:IAO_0000115 "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:45:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060089"^^xsd:string ; a owl:Class ; rdfs:label "endocrine organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002368 ] ) ] . obo:DOID_0060090 obo:IAO_0000115 "A nervous system benign neoplasm that is characterized by lack of malignancy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:45:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060090"^^xsd:string ; a owl:Class ; rdfs:label "central nervous system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060115, obo:DOID_331 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ) ] . obo:DOID_0060091 obo:IAO_0000115 "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:45:15Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060091"^^xsd:string ; a owl:Class ; rdfs:label "cardiovascular organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ) ] . obo:DOID_0060092 obo:IAO_0000115 "An organ system benign neoplasm located_in the immune system organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-14T01:58:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060092"^^xsd:string ; a owl:Class ; rdfs:label "immune system organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005057 ] ) ] . obo:DOID_0060094 obo:IAO_0000115 "A connective tissue benign neoplasm that is located_in bone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:34:59Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060094"^^xsd:string ; a owl:Class ; rdfs:label "bone benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060123, obo:DOID_0080001 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] ) ] . obo:DOID_0060095 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the uterus."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:42:11Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060113"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060095"^^xsd:string ; a owl:Class ; rdfs:label "uterine benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_345 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000995 ] ) ] . obo:DOID_0060096 obo:IAO_0000115 "A nervous system benign neoplasm that is located_in a sensory organ."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:45:26Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060096"^^xsd:string ; a owl:Class ; rdfs:label "sensory organ benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_0060115 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0060097 obo:IAO_0000115 "An organ system benign neoplam that is located_in the thoracic cavity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T01:55:57Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060097"^^xsd:string ; a owl:Class ; rdfs:label "thoracic benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_0060118 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000915 ] ) ] . obo:DOID_0060098 obo:IAO_0000115 "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T02:14:40Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018215"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060098"^^xsd:string ; a owl:Class ; rdfs:label "osteoblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060094 . obo:DOID_0060099 obo:IAO_0000115 "An organ system benign neoplasm that is located_in the muscular and skeletal organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T02:28:52Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060099"^^xsd:string ; a owl:Class ; rdfs:label "musculoskeletal system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_17 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_0060100 obo:IAO_0000115 "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-15T02:30:51Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060124"^^xsd:string ; oboInOwl:hasExactSynonym "skeletal system cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060100"^^xsd:string ; a owl:Class ; rdfs:label "musculoskeletal system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_17 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002204 ] ) ] . obo:DOID_0060101 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in glial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-19T01:27:04Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060101"^^xsd:string ; a owl:Class ; rdfs:label "obsolete benign glioma"^^xsd:string ; owl:deprecated true . obo:DOID_0060102 obo:IAO_0000115 "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-20T01:40:49Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060102"^^xsd:string ; a owl:Class ; rdfs:label "cartilage cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1222, obo:DOID_201 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002418 ] ) ] . obo:DOID_0060103 obo:IAO_0000115 "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-21T02:24:10Z"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9473/3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060103"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "central nervous system primitive neuroectodermal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_368, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0060104 obo:IAO_0000115 "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-21T02:28:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060104"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "cerebellar medulloblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4205 . obo:DOID_0060106 obo:IAO_0000115 "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-21T05:39:28Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060106"^^xsd:string ; a owl:Class ; rdfs:label "brain meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1319, obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] ) ] . obo:DOID_0060108 obo:IAO_0000115 "A brain cancer that has_material_basis_in glial cells."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-22T12:42:50Z"^^xsd:string ; oboInOwl:hasExactSynonym "lower grade glioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060108"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim ; a owl:Class ; rdfs:label "brain glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1319 . obo:DOID_0060109 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the vulva."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060109"^^xsd:string ; a owl:Class ; rdfs:label "vulvar benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_2059 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ] . obo:DOID_0060110 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the cervix."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060110"^^xsd:string ; a owl:Class ; rdfs:label "cervical benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060095, obo:DOID_2253 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000002 ] ) ] . obo:DOID_0060111 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the fallopian tube."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060111"^^xsd:string ; a owl:Class ; rdfs:label "fallopian tube benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_1962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] ) ] . obo:DOID_0060112 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the ovary."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060112"^^xsd:string ; a owl:Class ; rdfs:label "ovarian benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_1100 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_0060114 obo:IAO_0000115 "A female reproductive organ benign neoplasm that is located_in the vagina."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T11:50:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060114"^^xsd:string ; a owl:Class ; rdfs:label "vaginal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060086, obo:DOID_121 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] ) ] . obo:DOID_0060115 obo:IAO_0000115 "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T12:47:43Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060115"^^xsd:string ; a owl:Class ; rdfs:label "nervous system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_863 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] ) ] . obo:DOID_0060116 obo:IAO_0000115 "A nervous system cancer that is located in the sensory system."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T01:51:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060116"^^xsd:string ; a owl:Class ; rdfs:label "sensory system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_3093 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001032 ] ) ] . obo:DOID_0060117 obo:IAO_0000115 "An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T02:20:33Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060117"^^xsd:string ; a owl:Class ; rdfs:label "peritoneal benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002358 ] ) ] . obo:DOID_0060118 obo:IAO_0000115 "A disease of anatomical entity that is located_in the thoracic cavity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-25T02:23:47Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060118"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "thoracic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000915 ] ) ] . obo:DOID_0060119 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the pharynx."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T01:26:34Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010610"^^xsd:string, "NCI:C3325"^^xsd:string, "SNOMEDCT_US_2021_03_01:126685009"^^xsd:string, "UMLS_CUI:C0031347"^^xsd:string ; oboInOwl:hasExactSynonym "pharyngeal neoplasm"@en, "pharynx neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "pharyngeal cancer"@en ; oboInOwl:id "DOID:0060119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "pharynx cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006562 ] ) ] . obo:DOID_0060120 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T01:46:00Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060120"^^xsd:string ; a owl:Class ; rdfs:label "obsolete skeletal system benign neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_0060121 obo:IAO_0000115 "An organ system benign neoplasm located_in the integumentary system organs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T01:49:44Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060121"^^xsd:string ; a owl:Class ; rdfs:label "integumentary system benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060085, obo:DOID_16 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002416 ] ) ] . obo:DOID_0060122 obo:IAO_0000115 "An organ system cancer that is located_in the skin, hair and nails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T02:31:34Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060122"^^xsd:string ; a owl:Class ; rdfs:label "integumentary system cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686, obo:DOID_16 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002416 ] ) ] . obo:DOID_0060123 obo:IAO_0000115 "A musculoskeletal system benign neoplasm that is located_in connective tissue."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-07-27T02:35:57Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:177"^^xsd:string ; oboInOwl:hasDbXref "MESH:D012983"^^xsd:string, "NCI:C3377"^^xsd:string, "SNOMEDCT_US_2021_03_01:126600002"^^xsd:string, "UMLS_CUI:C0037579"^^xsd:string ; oboInOwl:hasExactSynonym "mesenchymal tissue neoplasm"^^xsd:string, "neoplasm of soft tissue"@en, "neoplasm of soft tissues"@en, "soft tissue benign neoplasm"@en, "tumor of the soft tissue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060123"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "connective tissue benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060099, obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002384 ] ) ] . obo:DOID_0060125 obo:IAO_0000115 "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C88.2"^^xsd:string, "MESH:D006362"^^xsd:string, "NCI:C3082"^^xsd:string, "NCI:C3083"^^xsd:string, "NCI:C3892"^^xsd:string, "SNOMEDCT_US_2021_03_01:61493004"^^xsd:string, "SNOMEDCT_US_2021_03_01:6381009"^^xsd:string, "SNOMEDCT_US_2021_03_01:68979007"^^xsd:string, "UMLS_CUI:C0018852"^^xsd:string, "UMLS_CUI:C0018854"^^xsd:string, "UMLS_CUI:C0242310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060125"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heavy chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 ; skos:exactMatch "MESH:D006362"^^xsd:string . obo:DOID_0060126 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of alpha antibodies (IgA)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasExactSynonym "Seligmann's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060126"^^xsd:string ; a owl:Class ; rdfs:label "alpha chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060127 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of gamma antibody (IgG)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10346"^^xsd:string ; oboInOwl:hasExactSynonym "Franklin's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060127"^^xsd:string ; a owl:Class ; rdfs:label "gamma heavy chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060128 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of mu antibody (IgM)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060128"^^xsd:string ; a owl:Class ; rdfs:label "mu chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060129 obo:IAO_0000115 "A heavy chain disease that results from an overproduction of delta antibody (IgD)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T11:23:09Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060129"^^xsd:string ; a owl:Class ; rdfs:label "delta chain disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060125 . obo:DOID_0060130 obo:IAO_0000115 "An agnosia that is a loss of motion perception."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060130"^^xsd:string ; a owl:Class ; rdfs:label "akinetopsia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060131 obo:IAO_0000115 "An agnosia that is a deficiency in understanding, processing, or describing emotions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060131"^^xsd:string ; a owl:Class ; rdfs:label "alexithymia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060132 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "receptive amusia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060132"^^xsd:string ; a owl:Class ; rdfs:label "amusia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060133 obo:IAO_0000115 "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060133"^^xsd:string ; a owl:Class ; rdfs:label "anosognosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060134 obo:IAO_0000115 "An agnosia that is a loss of the ability to distinguish visual shapes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060134"^^xsd:string ; a owl:Class ; rdfs:label "apperceptive agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060135 obo:IAO_0000115 "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5838"^^xsd:string, "ICD10CM:R48.2"^^xsd:string, "SNOMEDCT_US_2019_09_01:68345001"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060135"^^xsd:string ; a owl:Class ; rdfs:label "apraxia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 ; skos:exactMatch "MESH:D001072"^^xsd:string . obo:DOID_0060136 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060136"^^xsd:string ; a owl:Class ; rdfs:label "associative agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060137 obo:IAO_0000115 "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060137"^^xsd:string ; a owl:Class ; rdfs:label "auditory agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060138 obo:IAO_0000115 "An agnosia that is a loss of the ability to orient parts of the body."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060138"^^xsd:string ; a owl:Class ; rdfs:label "autotopagnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060139 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060139"^^xsd:string ; a owl:Class ; rdfs:label "color agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060140 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060140"^^xsd:string ; a owl:Class ; rdfs:label "cortical deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060141 obo:IAO_0000115 "An agnosia that is a loss of the ability to distinguish the fingers on the hand."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060141"^^xsd:string ; a owl:Class ; rdfs:label "finger agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060142 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060142"^^xsd:string ; a owl:Class ; rdfs:label "form agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060143 obo:IAO_0000115 "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060143"^^xsd:string ; a owl:Class ; rdfs:label "integrative agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060144 obo:IAO_0000115 "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060144"^^xsd:string ; a owl:Class ; rdfs:label "mirror agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060145 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive and process pain."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "analgesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060145"^^xsd:string ; a owl:Class ; rdfs:label "pain agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060146 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize familiar voices."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060146"^^xsd:string ; a owl:Class ; rdfs:label "phonagnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060147 obo:IAO_0000115 "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060147"^^xsd:string ; a owl:Class ; rdfs:label "semantic agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060148 obo:IAO_0000115 "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11943"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060148"^^xsd:string ; a owl:Class ; rdfs:label "simultanagnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060149 obo:IAO_0000115 "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "expressive agnosia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060149"^^xsd:string ; a owl:Class ; rdfs:label "social emotional agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060150 obo:IAO_0000115 "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasExactSynonym "somatosensory agnosia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060150"^^xsd:string ; a owl:Class ; rdfs:label "astereognosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060151 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognize or identify objects by touch alone."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060151"^^xsd:string ; a owl:Class ; rdfs:label "tactile agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060152 obo:IAO_0000115 "An agnosia that is a loss of the ability to comprehend the succession and duration of events."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060152"^^xsd:string ; a owl:Class ; rdfs:label "time agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060153 obo:IAO_0000115 "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060153"^^xsd:string ; a owl:Class ; rdfs:label "topographical agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060155 . obo:DOID_0060154 obo:IAO_0000115 "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060154"^^xsd:string ; a owl:Class ; rdfs:label "verbal auditory agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060155 obo:IAO_0000115 "An agnosia that is a loss of the ability to visually recognize objects."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C531604"^^xsd:string, "UMLS_CUI:C2930796"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060155"^^xsd:string ; a owl:Class ; rdfs:label "visual agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_4090 . obo:DOID_0060156 obo:IAO_0000115 "An agnosia that is a loss of the ability to comprehending the meaning of written words."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T12:04:56Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060156"^^xsd:string ; a owl:Class ; rdfs:label "visual verbal agnosia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060155 . obo:DOID_0060157 obo:IAO_0000115 "An alopecia areata that involves diffuse loss of hair over the whole scalp."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-22T03:45:02Z"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:46586006"^^xsd:string, "UMLS_CUI:C0263479"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060157"^^xsd:string ; a owl:Class ; rdfs:label "diffuse alopecia areata"^^xsd:string ; rdfs:subClassOf obo:DOID_986 . obo:DOID_0060158 obo:IAO_0000115 "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-24T02:53:03Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060158"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:label "acquired metabolic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0014667 . obo:DOID_0060159 obo:IAO_0000115 "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-26T11:17:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9433"^^xsd:string ; oboInOwl:hasExactSynonym "organic acid metabolism disorder"@en, "organic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060159"^^xsd:string ; a owl:Class ; rdfs:label "organic acidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0060160 obo:IAO_0000115 "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-29T01:15:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7674"^^xsd:string, "MESH:D014897"^^xsd:string, "NCI:C85076"^^xsd:string, "ORDO:70"^^xsd:string, "UMLS_CUI:C0700595"^^xsd:string ; oboInOwl:hasExactSynonym "spinal muscular atrophies of childhood"@en, "survival motor neuron spinal muscular atrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060160"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0060161 obo:IAO_0000115 "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-29T01:31:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6818"^^xsd:string, "MESH:D055534"^^xsd:string, "NCI:C85233"^^xsd:string, "OMIM:313200"^^xsd:string, "SNOMEDCT_US_2021_03_01:230253001"^^xsd:string, "UMLS_CUI:C1839259"^^xsd:string ; oboInOwl:hasExactSynonym "Kennedy disease"@en, "SBMA"@en, "Spinobulbar Muscular Atrophy"@en, "X-Linked Bulbo-Spinal Atrophy"@en, "X-linked Spinal and Bulbar Muscular Atrophy"@en, "spinal bulbar muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060161"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kennedy's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060162 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-08-29T01:41:48Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5643"^^xsd:string, "MESH:D020191"^^xsd:string, "NCI:C122653"^^xsd:string, "OMIM:125370"^^xsd:string, "SNOMEDCT_US_2021_03_01:702422004"^^xsd:string, "UMLS_CUI:C0751781"^^xsd:string ; oboInOwl:hasExactSynonym "DRPLA"@en, "Haw River Syndrome"@en, "Naito-Oyanagi disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060162"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "dentatorubral-pallidoluysian atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1441, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002503 ] ; skos:exactMatch "MESH:D020191"^^xsd:string, "NCI:C122653"^^xsd:string, "UMLS_CUI:C0751781"^^xsd:string . obo:DOID_0060163 obo:IAO_0000115 "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image)."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-07T01:38:34Z"^^xsd:string ; oboInOwl:hasExactSynonym "body dysmorphia"@en, "dysmorphic syndrome"@en, "dysmorphophobia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060163"^^xsd:string ; a owl:Class ; rdfs:label "body dysmorphic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_0060164 obo:IAO_0000115 "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-07T01:42:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060164"^^xsd:string ; a owl:Class ; rdfs:label "pain disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_0060165 obo:IAO_0000115 "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-07T02:46:02Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D017593"^^xsd:string, "OMIM:148840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060165"^^xsd:string ; a owl:Class ; rdfs:label "Kleine-Levin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_8619 . obo:DOID_0060166 obo:IAO_0000115 "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-09T02:27:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060166"^^xsd:string ; a owl:Class ; rdfs:label "bipolar ll disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3312 . obo:DOID_0060167 obo:IAO_0000115 "A mental depression that involves presentation of depressive symptoms only during a specific season of the year."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-09T02:53:18Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016574"^^xsd:string ; oboInOwl:hasExactSynonym "winter depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060167"^^xsd:string ; a owl:Class ; rdfs:label "seasonal affective disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1596 . obo:DOID_0060168 obo:IAO_0000115 "A histidine metabolism disease characterized by a deficiency of the enzyme histidase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-09-20T12:47:05Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6661"^^xsd:string, "MESH:C538320"^^xsd:string, "OMIM:235800"^^xsd:string ; oboInOwl:hasExactSynonym "histidinuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060168"^^xsd:string ; a owl:Class ; rdfs:label "histidinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9265 . obo:DOID_0060169 obo:IAO_0000115 "An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-10-28T02:55:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1518"^^xsd:string, "GARD:857"^^xsd:string, "OMIM:601764"^^xsd:string, "OMIM:605751"^^xsd:string, "OMIM:607745"^^xsd:string, "OMIM:612627"^^xsd:string, "ORDO:306"^^xsd:string ; oboInOwl:hasExactSynonym "BFIC"@en, "BFIE"@en, "benign familial infantile convulsion"@en, "benign familial infantile seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060169"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "benign familial infantile epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050703 . obo:DOID_0060170 obo:IAO_0000115 "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-10-28T02:57:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G40.3"^^xsd:string, "OMIM:PS121210"^^xsd:string, "ORDO:36387"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060170"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "generalized epilepsy with febrile seizures plus"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0060171 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-10-28T03:14:46Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060171"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "obsolete Dravet syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0060172 obo:IAO_0000115 "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T10:42:18Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060172"^^xsd:string ; a owl:Class ; rdfs:comment "JA:Epilepsy Genetics Kiel"^^xsd:string ; rdfs:label "juvenile absence epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050705, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060173 obo:IAO_0000115 "A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T12:52:33Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110649"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G72.3"^^xsd:string, "MESH:C536962"^^xsd:string, "OMIM:601005"^^xsd:string, "ORDO:65283"^^xsd:string, "ORDO:768"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060173"^^xsd:string ; a owl:Class ; rdfs:label "Timothy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060174 obo:IAO_0000115 "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T01:52:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613163"^^xsd:string ; oboInOwl:hasExactSynonym "Gamma-amino butyric acid transaminase deficiency"@en, "gamma-aminobutyric acid transaminase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060174"^^xsd:string ; a owl:Class ; rdfs:label "GABA aminotransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060176 . obo:DOID_0060175 obo:IAO_0000115 "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:02:12Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535803"^^xsd:string, "OMIM:271980"^^xsd:string ; oboInOwl:hasExactSynonym "4-hydroxybutyric aciduria"@en, "SSADH"@en, "gamma-hydroxybutyric aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060175"^^xsd:string ; a owl:Class ; rdfs:label "succinic semialdehyde dehydrogenase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060176 . obo:DOID_0060176 obo:IAO_0000115 "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:02:12Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060176"^^xsd:string ; a owl:Class ; rdfs:label "gamma-amino butyric acid metabolism disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0060177 obo:IAO_0000115 "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:02:12Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2730"^^xsd:string, "MESH:C535328"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060177"^^xsd:string ; a owl:Class ; rdfs:label "homocarnosinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060176, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0060178 obo:IAO_0000115 "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T02:54:32Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10975"^^xsd:string, "ICD10CM:G43.8"^^xsd:string, "ICD9CM:346.8"^^xsd:string, "ORDO:569"^^xsd:string, "SNOMEDCT_US_2021_03_01:193037008"^^xsd:string, "UMLS_CUI:C0477373"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060178"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "familial hemiplegic migraine"^^xsd:string ; rdfs:subClassOf obo:DOID_10024, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000293 ] . obo:DOID_0060179 obo:IAO_0000115 "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2011-11-08T03:21:30Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.5"^^xsd:string, "OMIM:309500"^^xsd:string, "ORDO:3242"^^xsd:string ; oboInOwl:hasExactSynonym "Golabi-Ito-Hall syndrome"@en, "Sutherland-Haan X-linked mental retardation syndrome"@en, "X-linked intellectual disability due to PQBP1 mutations"@en, "X-linked intellectual disability, Renpenning type"@en, "X-linked mental retardation Renpenning type"@en, "X-linked mental retardation with spastic diplegia"@en, "syndromic X-linked mental retardation 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060179"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Renpenning syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000568 ] . obo:DOID_0060180 obo:IAO_0000115 "An inflammatory bowel disease that involves inflammation located_in colon."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:31:45Z"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003872"^^xsd:string, "ICD10CM:K52.9"^^xsd:string, "MESH:D003092"^^xsd:string, "NCI:C26723"^^xsd:string, "SNOMEDCT_US_2021_03_01:64226004"^^xsd:string, "UMLS_CUI:C0009319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060180"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589 . obo:DOID_0060181 obo:IAO_0000115 "A colitis caused_by inadequate blood supply to the colon."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:36:51Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K55.9"^^xsd:string, "MESH:D017091"^^xsd:string, "SNOMEDCT_US_2021_03_01:30588004"^^xsd:string, "UMLS_CUI:C0162529"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060181"^^xsd:string ; a owl:Class ; rdfs:label "ischemic colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060182 obo:IAO_0000115 "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:49:18Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52.83"^^xsd:string, "MESH:D046728"^^xsd:string, "NCI:C38504"^^xsd:string, "ORDO:58220"^^xsd:string, "SNOMEDCT_US_2021_03_01:235753003"^^xsd:string, "UMLS_CUI:C0400821"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060182"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microscopic colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060183 obo:IAO_0000115 "A colitis characterized by a distinctive thickening of the subepithelial collagen table."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:56:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6135"^^xsd:string, "ICD10CM:K52.831"^^xsd:string, "MEDDRA:10048928"^^xsd:string, "MESH:D046729"^^xsd:string, "NCI:C27021"^^xsd:string, "SNOMEDCT_US_2021_03_01:19311003"^^xsd:string, "UMLS_CUI:C0238067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060183"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy."^^xsd:string ; rdfs:label "collagenous colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060182 . obo:DOID_0060184 obo:IAO_0000115 "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T14:58:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6939"^^xsd:string, "ICD10CM:K52.832"^^xsd:string, "MEDDRA:10025268"^^xsd:string, "MESH:D046730"^^xsd:string, "NCI:C27147"^^xsd:string, "ORDO:65279"^^xsd:string, "SNOMEDCT_US_2021_03_01:31437008"^^xsd:string, "UMLS_CUI:C0400822"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060184"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally."^^xsd:string ; rdfs:label "lymphocytic colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060182 . obo:DOID_0060185 obo:IAO_0000115 "A colitis characterized by an overgrowth of Clostridium difficile bacteria."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T15:01:17Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A04.7"^^xsd:string, "MEDDRA:10009657"^^xsd:string, "MESH:D004761"^^xsd:string, "NCI:C128347"^^xsd:string, "SNOMEDCT_US_2021_03_01:266525002"^^xsd:string, "SNOMEDCT_US_2021_03_01:397683000"^^xsd:string, "SNOMEDCT_US_2021_03_01:51180003"^^xsd:string, "UMLS_CUI:C0014358"^^xsd:string, "UMLS_CUI:C0085819"^^xsd:string, "UMLS_CUI:C1257843"^^xsd:string, "UMLS_CUI:C1257844"^^xsd:string, "UMLS_CUI:C1257845"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudomembranous colitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060185"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Clostridium difficile colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060186 obo:IAO_0000115 "A colitis caused_by introduction of various chemicals."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T15:08:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52"^^xsd:string, "ICD9CM:558"^^xsd:string, "UMLS_CUI:C0029512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060186"^^xsd:string ; a owl:Class ; rdfs:label "chemical colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060187 obo:IAO_0000115 "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-12T15:14:29Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52"^^xsd:string, "ICD9CM:558"^^xsd:string, "UMLS_CUI:C0029512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060187"^^xsd:string ; a owl:Class ; rdfs:label "diversion colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060180 . obo:DOID_0060188 obo:IAO_0000115 "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T10:51:02Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K50.0"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060188"^^xsd:string ; a owl:Class ; rdfs:label "jejunoileitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060189 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T11:40:07Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52.9"^^xsd:string, "MEDDRA:10021312"^^xsd:string, "MESH:D007079"^^xsd:string, "NCI:C84782"^^xsd:string, "SNOMEDCT_US_2021_03_01:52457000"^^xsd:string, "UMLS_CUI:C0020877"^^xsd:string ; oboInOwl:hasExactSynonym "Crohn's ileitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060189"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ileitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060190 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T12:22:19Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K52.9"^^xsd:string, "MEDDRA:10062647"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060190"^^xsd:string ; a owl:Class ; rdfs:comment "OWL classification."^^xsd:string ; rdfs:label "ileocolitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0060191 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T12:35:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K50.0"^^xsd:string ; oboInOwl:hasExactSynonym "upper GI Crohn's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060191"^^xsd:string ; a owl:Class ; rdfs:label "gastroduodenal Crohn's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0060192 obo:IAO_0000115 "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-15T12:50:24Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K50.1"^^xsd:string, "ICD9CM:555.1"^^xsd:string, "MESH:D003424"^^xsd:string, "NCI:C37262"^^xsd:string, "SNOMEDCT_US_2021_03_01:7620006"^^xsd:string, "UMLS_CUI:C0156147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OWL classification."^^xsd:string ; rdfs:label "Crohn's colitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8778, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_0060193 obo:IAO_0000115 "The most common type of familial ALS that has_material_basis_in mutation in the SOD1 gene on chromosome 21."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:04:32Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.2"^^xsd:string, "OMIM:105400"^^xsd:string ; oboInOwl:hasExactSynonym "ALS1"@en, "amyotrophic lateral sclerosis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060193"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060194 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:12:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9470"^^xsd:string, "ICD10CM:G12.2"^^xsd:string, "OMIM:205100"^^xsd:string ; oboInOwl:hasExactSynonym "ALS2"@en, "amyotrophic lateral sclerosis 2"@en, "amyotrophic lateral sclerosis 2, juvenile"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060194"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060195 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:18:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10501"^^xsd:string, "OMIM:606640"^^xsd:string ; oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ALS3"^^xsd:string, "ALS3"@en ; oboInOwl:id "DOID:0060195"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060196 obo:IAO_0000115 "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T13:49:59Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10502"^^xsd:string, "ICD10CM:G12.2"^^xsd:string, "OMIM:602433"^^xsd:string, "ORDO:357043"^^xsd:string ; oboInOwl:hasExactSynonym "ALS 4"@en, "amyotrophic lateral sclerosis 4"@en, "amyotrophic lateral sclerosis 4, juvenile"@en, "dHMN with upper motor neuron signs"@en, "distal hereditary motor neuropathy with pyramidal features"@en, "distal hereditary motor neuropathy with upper motor neuron signs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060196"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060197 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:17:01Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10503"^^xsd:string, "OMIM:602099"^^xsd:string ; oboInOwl:hasExactSynonym "ALS5"@en, "amyotrophic lateral sclerosis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060197"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060198 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:21:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9874"^^xsd:string, "OMIM:608030"^^xsd:string ; oboInOwl:hasExactSynonym "ALS6"@en, "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia"@en, "autosomal recessive amyotrophic lateral sclerosis 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060198"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060199 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:28:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10500"^^xsd:string, "OMIM:608031"^^xsd:string ; oboInOwl:hasExactSynonym "ALS7"@en, "amyotrophic lateral sclerosis 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060199"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060200 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:33:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10498"^^xsd:string, "OMIM:611895"^^xsd:string ; oboInOwl:hasExactSynonym "ALS9"@en, "amyotrophic lateral sclerosis 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060200"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060201 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:36:54Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10497"^^xsd:string, "OMIM:612069"^^xsd:string ; oboInOwl:hasExactSynonym "ALS10"@en, "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions"@en, "amyotrophic lateral sclerosis 10"@en, "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060201"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060202 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:49:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10496"^^xsd:string, "OMIM:612577"^^xsd:string ; oboInOwl:hasExactSynonym "ALS11"@en, "amyotrophic lateral sclerosis 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060202"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060203 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:53:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613435"^^xsd:string ; oboInOwl:hasExactSynonym "ALS12"@en, "amyotrophic lateral sclerosis 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060203"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060204 obo:IAO_0000115 "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T14:56:08Z"^^xsd:string ; oboInOwl:hasExactSynonym "ALS13"@en, "amyotrophic lateral sclerosis 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060204"^^xsd:string ; a owl:Class ; rdfs:comment "An association between 29 or more CAG repeats and the development of ALS13 exists."^^xsd:string ; rdfs:label "amyotrophic lateral sclerosis type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060205 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:02:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613954"^^xsd:string ; oboInOwl:hasExactSynonym "ALS14"@en, "amyotrophic lateral sclerosis 14"@en, "amyotrophic lateral sclerosis, with or without frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060205"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060206 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:12:48Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:300857"^^xsd:string ; oboInOwl:hasExactSynonym "ALS15"@en, "amyotrophic lateral sclerosis 15"@en, "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060206"^^xsd:string ; a owl:Class ; rdfs:comment "Described in one family only."^^xsd:string ; rdfs:label "amyotrophic lateral sclerosis type 15"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060207 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:17:01Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614373"^^xsd:string ; oboInOwl:hasExactSynonym "ALS16"@en, "amyotrophic lateral sclerosis 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "amyotrophic lateral sclerosis 16, juvenile"^^xsd:string, "amyotrophic lateral sclerosis 16, juvenile"@en ; oboInOwl:id "DOID:0060207"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 16"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060208 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:20:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060208"^^xsd:string ; a owl:Class ; rdfs:label "obsolete amyotrophic lateral sclerosis type 17"^^xsd:string ; owl:deprecated true . obo:DOID_0060209 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:24:08Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614808"^^xsd:string ; oboInOwl:hasExactSynonym "ALS18"@en, "amyotrophic lateral sclerosis 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060209"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060210 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:30:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615515"^^xsd:string ; oboInOwl:hasExactSynonym "ALS19"@en, "amyotrophic lateral sclerosis 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060210"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 19"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060211 obo:IAO_0000115 "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T15:34:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615426"^^xsd:string ; oboInOwl:hasExactSynonym "ALS20"@en, "amyotrophic lateral sclerosis 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060211"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 20"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060212 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T16:06:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606070"^^xsd:string ; oboInOwl:hasExactSynonym "ALS21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060212"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060213 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T16:36:24Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:105550"^^xsd:string ; oboInOwl:hasExactSynonym "ALSFTD"@en, "FTDALS1"^^xsd:string, "FTDMND"@en, "amyotrophic lateral sclerosis and/or frontotemporal dementia"@en, "frontotemporal dementia and/or amyotrophic lateral sclerosis 1"@en, "frontotemporal dementia and/or motor neuron disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060213"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-1"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060214 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-16T16:44:08Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615911"^^xsd:string ; oboInOwl:hasExactSynonym "FTDALS2"^^xsd:string, "frontotemporal dementia and/or amyotrophic lateral sclerosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060214"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-2"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060215 obo:IAO_0000115 "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-18T15:02:17Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5885"^^xsd:string, "ICD10CM:G37.0"^^xsd:string, "ICD9CM:341.1"^^xsd:string, "MESH:D002549"^^xsd:string, "NCI:C84670"^^xsd:string, "SNOMEDCT_US_2021_03_01:44875002"^^xsd:string, "UMLS_CUI:C0007795"^^xsd:string ; oboInOwl:hasExactSynonym "Balo disease"^^xsd:string, "Balo's concentric sclerosis"@en, "Tumefactive multiple sclerosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060215"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Similar to standard multiple sclerosis."^^xsd:string ; rdfs:label "Balo concentric sclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2377 . obo:DOID_0060216 obo:IAO_0000115 "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-22T16:29:20Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1421"^^xsd:string, "ICD10CM:H16.32"^^xsd:string, "MESH:D055952"^^xsd:string, "ORDO:1467"^^xsd:string, "SNOMEDCT_US_2021_03_01:231906002"^^xsd:string, "UMLS_CUI:C0271270"^^xsd:string ; oboInOwl:hasExactSynonym "Cogan's syndrome"@en, "diffuse interstitual keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060216"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OWL also bilateral audiovestibular deficits."^^xsd:string ; rdfs:label "Cogan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060217 obo:IAO_0000115 "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-23T12:31:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6125"^^xsd:string, "MEDDRA:10059200"^^xsd:string, "NCI:C84644"^^xsd:string, "ORDO:98980"^^xsd:string, "SNOMEDCT_US_2021_03_01:129624009"^^xsd:string, "UMLS_CUI:C1168173"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060217"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cogan-Reese syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060218 obo:IAO_0000115 "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-09-24T16:30:36Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12430"^^xsd:string, "ICD10CM:M34.1"^^xsd:string, "MESH:D017675"^^xsd:string, "NCI:C70646"^^xsd:string, "SNOMEDCT_US_2021_03_01:31848007"^^xsd:string, "SNOMEDCT_US_2021_03_01:62382002"^^xsd:string, "UMLS_CUI:C0206138"^^xsd:string, "UMLS_CUI:C1527226"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060218"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "CREST syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060219 obo:IAO_0000115 "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-05T09:11:16Z"^^xsd:string ; oboInOwl:hasExactSynonym "lymph node adenoid cystic cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060219"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "lymph node adenoid cystic carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080618 . obo:DOID_0060220 obo:IAO_0000115 "An urticaria induced by external physical influences."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-21T15:51:38Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060220"^^xsd:string ; a owl:Class ; rdfs:comment "WD correction."^^xsd:string ; rdfs:label "physical urticaria"^^xsd:string ; rdfs:subClassOf obo:DOID_1555 . obo:DOID_0060221 obo:IAO_0000115 "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-26T11:16:24Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6958"^^xsd:string, "ICD10CM:Q78.4"^^xsd:string, "OMIM:614569"^^xsd:string, "ORDO:163634"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060221"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "WD former synonym."^^xsd:string ; rdfs:label "Maffucci syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060222 obo:IAO_0000115 "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-26T11:32:20Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12561"^^xsd:string, "ICD10CM:E76.0"^^xsd:string, "OMIM:607016"^^xsd:string, "ORDO:93474"^^xsd:string ; oboInOwl:hasExactSynonym "mucopolysaccharidosis type 1S"@en, "mucopolysaccharidosis type IS"@en, "mucopolysaccharidosis type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060222"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "WD former synonym."^^xsd:string ; rdfs:label "Scheie syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12802 . obo:DOID_0060223 obo:IAO_0000115 "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2014-11-26T11:44:01Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R48.8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060223"^^xsd:string ; a owl:Class ; rdfs:label "agraphia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060047 ; skos:exactMatch "MESH:D000381"^^xsd:string . obo:DOID_0060224 obo:IAO_0000115 "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T14:55:21Z"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:427.31"^^xsd:string, "MESH:D001281"^^xsd:string, "NCI:C50466"^^xsd:string, "SNOMEDCT_US_2021_03_01:266306001"^^xsd:string, "UMLS_CUI:C0004238"^^xsd:string ; oboInOwl:hasExactSynonym "A-fib"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060224"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrial fibrillation"^^xsd:string ; rdfs:subClassOf obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000530 ] ; skos:exactMatch "MESH:D001281"^^xsd:string . obo:DOID_0060225 obo:IAO_0000115 "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T15:08:40Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1118"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:PS257920"^^xsd:string, "ORDO:293843"^^xsd:string ; oboInOwl:hasExactSynonym "craniofacial-ulnar-renal syndrome"@en, "oculopalatoskeletal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060225"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "3MC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060226 obo:IAO_0000115 "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T15:39:56Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C538186"^^xsd:string, "OMIM:201180"^^xsd:string, "OMIM:239710"^^xsd:string, "ORDO:1784"^^xsd:string, "SNOMEDCT_US_2021_03_01:720408003"^^xsd:string, "UMLS_CUI:C1860118"^^xsd:string ; oboInOwl:hasExactSynonym "AFFN dysostosis"@en, "Richieri-Costa-Colletto syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060226"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "acrofrontofacionasal dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0060227 obo:IAO_0000115 "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T15:48:40Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5739"^^xsd:string, "OMIM:100300"^^xsd:string, "OMIM:614219"^^xsd:string, "OMIM:614814"^^xsd:string, "OMIM:615297"^^xsd:string, "OMIM:616028"^^xsd:string, "OMIM:PS100300"^^xsd:string, "ORDO:974"^^xsd:string, "SNOMEDCT_US_2021_03_01:34748004"^^xsd:string, "UMLS_CUI:C0265268"^^xsd:string ; oboInOwl:hasExactSynonym "Adams Oliver syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060227"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Adams-Oliver syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060228 obo:IAO_0000115 "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T16:24:39Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS105800"^^xsd:string, "ORDO:231160"^^xsd:string ; oboInOwl:hasExactSynonym "familial aneurysmal subarachnoid hemorrhage"@en, "familial berry aneurysm"@en, "familial intracranial saccular aneurysm"@en, "saccular cerebral aneurysm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060228"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "intracranial berry aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_10941 . obo:DOID_0060229 obo:IAO_0000115 "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-16T16:52:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5279"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "OMIM:243310"^^xsd:string, "OMIM:614583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060229"^^xsd:string ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Baraitser-Winter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060230 obo:IAO_0000115 "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-22T13:09:08Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536275"^^xsd:string, "OMIM:114100"^^xsd:string, "OMIM:213600"^^xsd:string, "OMIM:615007"^^xsd:string, "OMIM:615483"^^xsd:string, "SNOMEDCT_US_2021_03_01:110997000"^^xsd:string, "UMLS_CUI:C0393590"^^xsd:string ; oboInOwl:hasExactSynonym "Fahr disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060230"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "basal ganglia calcification"^^xsd:string ; rdfs:subClassOf obo:DOID_679 . obo:DOID_0060231 obo:IAO_0000115 "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T15:12:40Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M21.8"^^xsd:string, "OMIM:259450"^^xsd:string, "OMIM:609220"^^xsd:string, "ORDO:2771"^^xsd:string ; oboInOwl:hasExactSynonym "osteogenesis imperfecta with congenital joint contractures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060231"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Bruck syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060232 obo:IAO_0000115 "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T15:24:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10148"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "OMIM:120502"^^xsd:string, "OMIM:602588"^^xsd:string, "OMIM:608389"^^xsd:string, "ORDO:52429"^^xsd:string ; oboInOwl:hasExactSynonym "BO syndrome"@en, "BOR"@en, "branchiootic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060232"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "branchiootic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060233 obo:IAO_0000115 "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T15:37:07Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9146"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:PS115150"^^xsd:string, "ORDO:1340"^^xsd:string ; oboInOwl:hasExactSynonym "CFC syndrome"@en, "cardio-facial-cutaneous syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060233"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "cardiofaciocutaneous syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080690, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060234 obo:IAO_0000115 "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T16:06:03Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6003"^^xsd:string, "MESH:C563187"^^xsd:string, "NCI:C98873"^^xsd:string, "OMIM:201000"^^xsd:string, "OMIM:614976"^^xsd:string, "ORDO:65759"^^xsd:string, "SNOMEDCT_US_2021_03_01:403767009"^^xsd:string, "UMLS_CUI:C1275078"^^xsd:string ; oboInOwl:hasExactSynonym "acrocephalopolysyndactyly type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060234"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Carpenter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12960 . obo:DOID_0060235 obo:IAO_0000115 "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-23T16:35:22Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535589"^^xsd:string, "NCI:C114766"^^xsd:string, "OMIM:255110"^^xsd:string, "OMIM:600649"^^xsd:string, "OMIM:608836"^^xsd:string, "ORDO:157"^^xsd:string, "SNOMEDCT_US_2021_03_01:238002005"^^xsd:string, "UMLS_CUI:C0342790"^^xsd:string ; oboInOwl:hasExactSynonym "CPT-II"@en, "infantile carnitine palmitoyltransferase II deficiency"@en, "late-onset carnitine palmitoyltransferase II deficiency"@en, "lethal neonatal carnitine palmitoyltransferase II deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060235"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "carnitine palmitoyltransferase II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0060236 obo:IAO_0000115 "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T14:10:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C562584"^^xsd:string, "MESH:C566358"^^xsd:string, "OMIM:278300"^^xsd:string, "OMIM:603592"^^xsd:string, "ORDO:3467"^^xsd:string, "SNOMEDCT_US_2021_03_01:836343001"^^xsd:string, "UMLS_CUI:C0268118"^^xsd:string, "UMLS_CUI:C1863688"^^xsd:string ; oboInOwl:hasExactSynonym "xanthine dehydrogenase deficiency"@en, "xanthine oxidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060236"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "xanthinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_653 . obo:DOID_0060237 obo:IAO_0000115 "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T14:32:30Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536681"^^xsd:string, "OMIM:PS600118"^^xsd:string, "ORDO:2510"^^xsd:string, "SNOMEDCT_US_2021_03_01:772224009"^^xsd:string, "UMLS_CUI:C1838625"^^xsd:string ; oboInOwl:hasExactSynonym "WARBM"@en, "Warburg-Sjo-Fledelius syndrome"@en, "micro syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060237"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Warburg micro syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060238 obo:IAO_0000115 "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T15:42:05Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5456"^^xsd:string, "MESH:C536530"^^xsd:string, "OMIM:PS601390"^^xsd:string, "ORDO:314679"^^xsd:string, "SNOMEDCT_US_2021_03_01:763353000"^^xsd:string, "UMLS_CUI:C1832390"^^xsd:string ; oboInOwl:hasExactSynonym "cerebro-facio-articular syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060238"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Van Maldergem syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060239 obo:IAO_0000115 "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T15:51:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8414"^^xsd:string, "ICD10CM:Q38.0"^^xsd:string, "MESH:C536528"^^xsd:string, "MESH:C563529"^^xsd:string, "NCI:C74986"^^xsd:string, "OMIM:119300"^^xsd:string, "OMIM:606713"^^xsd:string, "ORDO:888"^^xsd:string, "SNOMEDCT_US_2021_03_01:79261008"^^xsd:string, "UMLS_CUI:C0175697"^^xsd:string, "UMLS_CUI:C1834339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "lip-pit syndrome"@en ; oboInOwl:id "DOID:0060239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Van der Woude syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060240 obo:IAO_0000115 "A skin disease characterized by photosensitivity and liver spots (solar lentigines)."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T16:00:50Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563466"^^xsd:string, "OMIM:600630"^^xsd:string, "OMIM:614621"^^xsd:string, "OMIM:614640"^^xsd:string, "OMIM:PS600630"^^xsd:string, "ORDO:178338"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060240"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "UV-sensitive syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060241 obo:IAO_0000115 "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T16:10:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5667"^^xsd:string, "MESH:C535314"^^xsd:string, "MESH:C535725"^^xsd:string, "OMIM:273750"^^xsd:string, "OMIM:612921"^^xsd:string, "OMIM:614205"^^xsd:string, "ORDO:2616"^^xsd:string, "SNOMEDCT_US_2021_03_01:702342007"^^xsd:string, "UMLS_CUI:C1848862"^^xsd:string, "UMLS_CUI:C1851996"^^xsd:string ; oboInOwl:hasExactSynonym "Le Merrer syndrome"@en, "Miller-McKusick-Malvaux syndrome"@en, "Yakut short stature syndrome"@en, "dolichospondylic dysplasia"@en, "gloomy face syndrome"@en, "three M syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060241"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "3-M syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060242 obo:IAO_0000115 "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-27T16:57:56Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5087"^^xsd:string, "MESH:C538153"^^xsd:string, "NCI:C75005"^^xsd:string, "OMIM:186000"^^xsd:string, "OMIM:608180"^^xsd:string, "OMIM:610234"^^xsd:string, "ORDO:295195"^^xsd:string, "SNOMEDCT_US_2021_03_01:715724002"^^xsd:string, "UMLS_CUI:C2699746"^^xsd:string ; oboInOwl:hasExactSynonym "syndactyly type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060242"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "synpolydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_11193 . obo:DOID_0060243 obo:IAO_0000115 "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:04:54Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.81"^^xsd:string, "MESH:D013342"^^xsd:string, "NCI:C35043"^^xsd:string, "OMIM:184450"^^xsd:string, "OMIM:609261"^^xsd:string, "OMIM:614655"^^xsd:string, "OMIM:614668"^^xsd:string, "SNOMEDCT_US_2021_03_01:191987007"^^xsd:string, "SNOMEDCT_US_2021_03_01:229631007"^^xsd:string, "SNOMEDCT_US_2021_03_01:29916003"^^xsd:string, "UMLS_CUI:C0038131"^^xsd:string, "UMLS_CUI:C0038506"^^xsd:string, "UMLS_CUI:C0454542"^^xsd:string, "UMLS_CUI:C0751527"^^xsd:string, "UMLS_CUI:C0751528"^^xsd:string, "UMLS_CUI:C0751529"^^xsd:string, "UMLS_CUI:C3489627"^^xsd:string ; oboInOwl:hasExactSynonym "familial persistent stuttering"@en, "stammering"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060243"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "stuttering"^^xsd:string ; rdfs:subClassOf obo:DOID_4186 . obo:DOID_0060244 obo:IAO_0000115 "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:29:51Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606711"^^xsd:string, "OMIM:606712"^^xsd:string, "OMIM:607134"^^xsd:string, "OMIM:612514"^^xsd:string, "OMIM:615432"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060244"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "specific language impairment"^^xsd:string ; rdfs:subClassOf obo:DOID_93 . obo:DOID_0060245 obo:IAO_0000115 "A hereditary spastic paraplegia associated with dementia."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:42:37Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "MESH:C565409"^^xsd:string, "OMIM:248900"^^xsd:string, "ORDO:101001"^^xsd:string ; oboInOwl:hasExactSynonym "SPG21"@en, "autosomal recessive spastic paraplegia 21"@en, "autosomal recessive spastic paraplegia type 21"@en, "hereditary spastic paraplegia 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060245"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Mast syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2476 . obo:DOID_0060246 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-28T16:49:53Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6986"^^xsd:string, "MESH:C536029"^^xsd:string, "NCI:C129930"^^xsd:string, "OMIM:303350"^^xsd:string, "ORDO:2466"^^xsd:string, "SNOMEDCT_US_2021_03_01:716996008"^^xsd:string, "UMLS_CUI:C0795953"^^xsd:string ; oboInOwl:hasExactSynonym "CRASH syndrome"@en, "Gareis-Mason syndrome"@en, "L1 syndrome"@en, "SPG1"@en, "X-linked complicated hereditary spastic paraplegia type 1"@en, "X-linked corpus callosum agenesis"@en, "X-linked spastic paraplegia 1"@en, "hereditary spastic paraplegia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060246"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "MASA syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060247 obo:IAO_0000115 "A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:06:25Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C564589"^^xsd:string, "OMIM:607326"^^xsd:string, "OMIM:615222"^^xsd:string, "ORDO:178355"^^xsd:string, "SNOMEDCT_US_2021_03_01:715862006"^^xsd:string, "UMLS_CUI:C1846431"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060247"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Smith-McCort dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111167 . obo:DOID_0060248 obo:IAO_0000115 "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:15:46Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7649"^^xsd:string, "MESH:C537340"^^xsd:string, "NCI:C118787"^^xsd:string, "OMIM:312870"^^xsd:string, "ORDO:373"^^xsd:string, "UMLS_CUI:C0796154"^^xsd:string ; oboInOwl:hasExactSynonym "DGSX Golabi-Rosen syndrome"@en, "Golabi-Rosen syndrome"@en, "SGB syndrome"@en, "Sara Angers syndrome"@en, "Simpson dysmorphia syndrome"@en, "X-linked dysplasia gigantism syndrome"@en, "bulldog syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060248"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Simpson-Golabi-Behmel syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060249 obo:IAO_0000115 "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:44:16Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M41.9"^^xsd:string, "MESH:D012600"^^xsd:string, "NCI:C78603"^^xsd:string, "SNOMEDCT_US_2021_03_01:36773001"^^xsd:string, "UMLS_CUI:C0036439"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060249"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI add."^^xsd:string ; rdfs:label "scoliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080010, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010674 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] ; skos:exactMatch "MESH:D012600"^^xsd:string . obo:DOID_0060250 obo:IAO_0000115 "A scoliosis with no known cause."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T15:52:18Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060250"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "idiopathic scoliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060249 . obo:DOID_0060251 obo:IAO_0000115 "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:02:45Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4771"^^xsd:string, "MESH:C537525"^^xsd:string, "NCI:C131133"^^xsd:string, "OMIM:PS269500"^^xsd:string, "ORDO:3152"^^xsd:string, "SNOMEDCT_US_2021_03_01:17568006"^^xsd:string, "UMLS_CUI:C0265301"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060251"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "sclerosteosis"^^xsd:string ; rdfs:subClassOf obo:DOID_205 . obo:DOID_0060252 obo:IAO_0000115 "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:16:57Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C565209"^^xsd:string, "OMIM:181700"^^xsd:string, "ORDO:91490"^^xsd:string, "UMLS_CUI:C1853235"^^xsd:string ; oboInOwl:hasExactSynonym "isolated congenital sclerocornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060252"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "sclerocornea"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0060253 obo:IAO_0000115 "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:35:26Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536624"^^xsd:string, "OMIM:181430"^^xsd:string, "OMIM:300695"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060253"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "scapuloperoneal myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_0060254 obo:IAO_0000115 "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:42:52Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:312"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:C562492"^^xsd:string, "NCI:C85048"^^xsd:string, "OMIM:PS268310"^^xsd:string, "ORDO:97360"^^xsd:string, "SNOMEDCT_US_2021_03_01:76520005"^^xsd:string, "UMLS_CUI:C0265205"^^xsd:string ; oboInOwl:hasExactSynonym "Robinow dwarfism"@en, "acral dysostosis with facial and genital abnormalities"@en, "fetal face syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060254"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Robinow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0060255 obo:IAO_0000115 "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-29T16:51:43Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110302"^^xsd:string ; oboInOwl:hasDbXref "GARD:9164"^^xsd:string, "OMIM:606072"^^xsd:string, "ORDO:265"^^xsd:string, "ORDO:97238"^^xsd:string, "SNOMEDCT_US_2021_03_01:709281006"^^xsd:string, "UMLS_CUI:C1853698"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant limb-girdle muscular dystrophy type 1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060255"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "rippling muscle disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_66, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060256 obo:IAO_0000115 "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T11:04:57Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9775"^^xsd:string, "MESH:C562924"^^xsd:string, "OMIM:179850"^^xsd:string, "OMIM:615327"^^xsd:string, "OMIM:615674"^^xsd:string, "OMIM:615696"^^xsd:string, "ORDO:79145"^^xsd:string, "SNOMEDCT_US_2021_03_01:239133004"^^xsd:string, "UMLS_CUI:C0406811"^^xsd:string, "UMLS_CUI:C3714534"^^xsd:string ; oboInOwl:hasExactSynonym "dark dot disease"@en, "reticular pigment anomaly of flexures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060256"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Dowling-Degos disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060257 obo:IAO_0000115 "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:08:47Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535729"^^xsd:string, "NCI:C118435"^^xsd:string, "OMIM:127400"^^xsd:string, "ORDO:41"^^xsd:string, "SNOMEDCT_US_2021_03_01:239085000"^^xsd:string, "UMLS_CUI:C0406775"^^xsd:string ; oboInOwl:hasExactSynonym "reticulate acropigmentation of Dohi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060257"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "dyschromatosis symmetrica hereditaria"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060258 obo:IAO_0000115 "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:19:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615537"^^xsd:string, "ORDO:178307"^^xsd:string, "SNOMEDCT_US_2021_03_01:239133004"^^xsd:string, "UMLS_CUI:C0406811"^^xsd:string ; oboInOwl:hasExactSynonym "RAPK"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060258"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "reticulate acropigmentation of Kitamura"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060259 obo:IAO_0000115 "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:33:37Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:208540"^^xsd:string, "OMIM:615415"^^xsd:string, "ORDO:294415"^^xsd:string ; oboInOwl:hasExactSynonym "Ivemark's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060259"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "renal-hepatic-pancreatic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0060260 obo:IAO_0000115 "An eye disease characterized by the drooping or falling of the upper or lower eyelid."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:46:53Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.4"^^xsd:string, "ICD9CM:374.3"^^xsd:string, "MESH:D001763"^^xsd:string, "NCI:C27298"^^xsd:string, "SNOMEDCT_US_2021_03_01:204197004"^^xsd:string, "UMLS_CUI:C0005745"^^xsd:string ; oboInOwl:hasExactSynonym "blepharoptosis"@en, "drooping eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060260"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI add."^^xsd:string ; rdfs:label "ptosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060261 obo:IAO_0000115 "A ptosis characterized by eyelid drop present at birth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-01-30T16:53:38Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q10.0"^^xsd:string, "ICD9CM:743.61"^^xsd:string, "NCI:C27049"^^xsd:string, "OMIM:178300"^^xsd:string, "OMIM:300245"^^xsd:string, "SNOMEDCT_US_2021_03_01:204197004"^^xsd:string, "UMLS_CUI:C0266573"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060261"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "congenital ptosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060260, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060262 obo:IAO_0000115 "A gastrointestinal system disease that is located_in the gallbladder."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-02T15:48:08Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0000000"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K82.9"^^xsd:string, "ICD9CM:575.9"^^xsd:string, "MESH:D005705"^^xsd:string, "NCI:C34631"^^xsd:string, "OMIM:609918"^^xsd:string, "OMIM:609919"^^xsd:string, "OMIM:611465"^^xsd:string, "SNOMEDCT_US_2021_03_01:155807008"^^xsd:string, "UMLS_CUI:C0016977"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "gallbladder disease"^^xsd:string ; rdfs:subClassOf obo:DOID_77 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] ) ] . obo:DOID_0060263 obo:IAO_0000115 "A brain disease that is characterized by encephalomalacia and cystic brain lesions."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:12:00Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7430"^^xsd:string, "ICD10CM:Q04.6"^^xsd:string, "MESH:D065708"^^xsd:string, "OMIM:614483"^^xsd:string, "ORDO:2940"^^xsd:string, "SNOMEDCT_US_2021_03_01:38353004"^^xsd:string, "SNOMEDCT_US_2021_03_01:698837003"^^xsd:string, "UMLS_CUI:C0302892"^^xsd:string, "UMLS_CUI:C1867983"^^xsd:string, "UMLS_CUI:C3698507"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060263"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "porencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0060264 obo:IAO_0000115 "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:23:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10977"^^xsd:string, "MESH:C580383"^^xsd:string, "SNOMEDCT_US_2021_03_01:45163000"^^xsd:string, "UMLS_CUI:C0266468"^^xsd:string ; oboInOwl:hasExactSynonym "PCH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060264"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI add."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0060265 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in mutation in the VRK1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:607596"^^xsd:string, "ORDO:2254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060265"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060266 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614678"^^xsd:string, "ORDO:2254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060266"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060267 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10705"^^xsd:string, "GARD:3631"^^xsd:string, "MESH:C564738"^^xsd:string, "OMIM:277470"^^xsd:string, "ORDO:2524"^^xsd:string, "UMLS_CUI:C1848526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060267"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060268 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567325"^^xsd:string, "OMIM:612389"^^xsd:string, "ORDO:2524"^^xsd:string, "UMLS_CUI:C2676466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060268"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060269 obo:IAO_0000115 "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567324"^^xsd:string, "OMIM:612390"^^xsd:string, "ORDO:2524"^^xsd:string, "UMLS_CUI:C2676465"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060269"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060270 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:613811"^^xsd:string, "ORDO:2524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060271 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615851"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060271"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060272 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10708"^^xsd:string, "MESH:C548072"^^xsd:string, "OMIM:608027"^^xsd:string, "ORDO:97249"^^xsd:string, "SNOMEDCT_US_2021_03_01:718609003"^^xsd:string, "UMLS_CUI:C1842687"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060272"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060273 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:343"^^xsd:string, "MESH:C536716"^^xsd:string, "OMIM:225753"^^xsd:string, "ORDO:166063"^^xsd:string, "SNOMEDCT_US_2021_03_01:718608006"^^xsd:string, "UMLS_CUI:C1856974"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060273"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060274 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10709"^^xsd:string, "MESH:C537745"^^xsd:string, "OMIM:610204"^^xsd:string, "ORDO:166068"^^xsd:string, "SNOMEDCT_US_2021_03_01:718607001"^^xsd:string, "UMLS_CUI:C1857762"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060274"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060275 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10710"^^xsd:string, "MESH:C548074"^^xsd:string, "OMIM:611523"^^xsd:string, "ORDO:166073"^^xsd:string, "SNOMEDCT_US_2021_03_01:718606005"^^xsd:string, "UMLS_CUI:C1969084"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060275"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060276 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:614969"^^xsd:string, "ORDO:284339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060276"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060277 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:614961"^^xsd:string, "ORDO:324569"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060277"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060278 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:615809"^^xsd:string, "ORDO:369920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060278"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060279 obo:IAO_0000115 "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T14:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615803"^^xsd:string, "ORDO:411493"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060279"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "pontocerebellar hypoplasia type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060264 . obo:DOID_0060280 obo:IAO_0000115 "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:01:02Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10906"^^xsd:string, "MESH:C566469"^^xsd:string, "MESH:C566472"^^xsd:string, "OMIM:610475"^^xsd:string, "OMIM:610489"^^xsd:string, "OMIM:614190"^^xsd:string, "OMIM:615830"^^xsd:string, "ORDO:189439"^^xsd:string, "UMLS_CUI:C1864846"^^xsd:string, "UMLS_CUI:C1864851"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060280"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "primary pigmented nodular adrenocortical disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3952 . obo:DOID_0060281 obo:IAO_0000115 "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:15:55Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5648"^^xsd:string, "ICD10CM:G40.8"^^xsd:string, "OMIM:132100"^^xsd:string, "OMIM:609572"^^xsd:string, "OMIM:609573"^^xsd:string, "ORDO:166409"^^xsd:string ; oboInOwl:hasExactSynonym "photogenic epilepsy"@en, "photoparoxysmal response"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060281"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "photosensitive epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_0060282 obo:IAO_0000115 "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:21:06Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D054514"^^xsd:string, "NCI:C161554"^^xsd:string, "OMIM:221900"^^xsd:string, "OMIM:611308"^^xsd:string, "ORDO:91495"^^xsd:string, "SNOMEDCT_US_2021_03_01:69927002"^^xsd:string, "UMLS_CUI:C0266568"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060282"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "persistent hyperplastic primary vitreous"^^xsd:string ; rdfs:subClassOf obo:DOID_9720 . obo:DOID_0060283 obo:IAO_0000115 "A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:28:52Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.8"^^xsd:string, "OMIM:270300"^^xsd:string, "OMIM:613088"^^xsd:string, "ORDO:263543"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060283"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "peeling skin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0060284 obo:IAO_0000115 "An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:30:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7337"^^xsd:string, "ICD10CM:D59.5"^^xsd:string, "ICD10CM:D59.6"^^xsd:string, "MESH:D006457"^^xsd:string, "NCI:C61233"^^xsd:string, "OMIM:300818"^^xsd:string, "OMIM:615399"^^xsd:string, "ORDO:447"^^xsd:string, "SNOMEDCT_US_2021_03_01:1468004"^^xsd:string, "SNOMEDCT_US_2021_03_01:154805009"^^xsd:string, "SNOMEDCT_US_2021_03_01:191226006"^^xsd:string, "UMLS_CUI:C0019050"^^xsd:string, "UMLS_CUI:C0024790"^^xsd:string, "UMLS_CUI:C0086774"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060284"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "paroxysmal nocturnal hemoglobinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_582 . obo:DOID_0060285 obo:IAO_0000115 "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:36:15Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566826"^^xsd:string, "OMIM:168500"^^xsd:string, "OMIM:609566"^^xsd:string, "OMIM:609597"^^xsd:string, "ORDO:60015"^^xsd:string, "SNOMEDCT_US_2021_03_01:718099006"^^xsd:string, "UMLS_CUI:C1868598"^^xsd:string ; oboInOwl:hasExactSynonym "Caitlin marks"@en, "enlarged parietal foramina"@en, "hereditary cranium bifidum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060285"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "parietal foramina"^^xsd:string ; rdfs:subClassOf obo:DOID_0080074 . obo:DOID_0060286 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T16:56:52Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12893"^^xsd:string, "OMIM:PS609060"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060286"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "combined oxidative phosphorylation deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0060287 obo:IAO_0000115 "A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-04T17:04:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.4"^^xsd:string, "OMIM:121400"^^xsd:string, "OMIM:217300"^^xsd:string, "ORDO:53691"^^xsd:string ; oboInOwl:hasExactSynonym "flat cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060287"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "cornea plana"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0060288 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T09:58:47Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS258315"^^xsd:string, "ORDO:2733"^^xsd:string, "SNOMEDCT_US_2021_03_01:725164008"^^xsd:string, "UMLS_CUI:C4510897"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060288"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "omodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060289 obo:IAO_0000115 "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T10:03:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536232"^^xsd:string, "OMIM:249620"^^xsd:string, "OMIM:300895"^^xsd:string, "ORDO:2728"^^xsd:string, "SNOMEDCT_US_2021_03_01:412787009"^^xsd:string, "UMLS_CUI:C0796094"^^xsd:string ; oboInOwl:hasExactSynonym "Ohdo blepharophimosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060289"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Ohdo syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060290 obo:IAO_0000115 "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T10:07:12Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536717"^^xsd:string, "OMIM:603736"^^xsd:string, "ORDO:3047"^^xsd:string, "SNOMEDCT_US_2021_03_01:699298009"^^xsd:string, "UMLS_CUI:C1863557"^^xsd:string ; oboInOwl:hasExactSynonym "Ohdo syndrome, SBBYS Variant"@en, "Say-Barber-Biesecker-Young-Simpson syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "SBBYSS"@en ; oboInOwl:id "DOID:0060290"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "blepharophimosis-intellectual disability syndrome, SBBYS type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060289, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060291 obo:IAO_0000115 "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T10:12:23Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:7239"^^xsd:string, "MESH:C563160"^^xsd:string, "OMIM:164200"^^xsd:string, "OMIM:257850"^^xsd:string, "ORDO:2710"^^xsd:string, "SNOMEDCT_US_2021_03_01:31291009"^^xsd:string, "UMLS_CUI:C0812437"^^xsd:string ; oboInOwl:hasExactSynonym "ODD syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060291"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "oculodentodigital dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060292 obo:IAO_0000115 "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T16:35:34Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "MESH:C580533"^^xsd:string, "OMIM:302950"^^xsd:string, "ORDO:35173"^^xsd:string ; oboInOwl:hasExactSynonym "chondrodystrophia calcificans congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060292"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "X-linked chondrodysplasia punctata 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2581, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060293 obo:IAO_0000115 "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-05T16:49:46Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "OMIM:118650"^^xsd:string, "OMIM:118651"^^xsd:string, "OMIM:602497"^^xsd:string, "ORDO:79344"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060293"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "autosomal dominant chondrodysplasia punctata"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2581, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060294 obo:IAO_0000115 "A syndrome that is characterized by profuse sweating induced by cold ambient temperature."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-06T16:10:07Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536214"^^xsd:string, "OMIM:PS272430"^^xsd:string, "ORDO:157820"^^xsd:string, "SNOMEDCT_US_2021_03_01:725097006"^^xsd:string, "UMLS_CUI:C1832409"^^xsd:string ; oboInOwl:hasExactSynonym "Crisponi syndrome"@en, "Sohar-Crisponi syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060294"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "cold-induced sweating syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060295 obo:IAO_0000115 "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1452"^^xsd:string, "ICD10CM:D84.1"^^xsd:string, "OMIM:217000"^^xsd:string, "ORDO:169147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060295"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 2 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060296 obo:IAO_0000115 "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T16:42:50Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536210"^^xsd:string, "OMIM:214700"^^xsd:string, "ORDO:53689"^^xsd:string, "SNOMEDCT_US_2021_03_01:24412005"^^xsd:string, "UMLS_CUI:C0267662"^^xsd:string ; oboInOwl:hasExactSynonym "congenital chloride diarrhea finnish type"@en, "congenital chloride diarrhoea finnish type"@en, "congenital chloridorrhea"@en, "congenital secretory chloride diarrhoea 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060296"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "congenital secretory chloride diarrhea 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050129, obo:DOID_0050737, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060297 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:614380"^^xsd:string, "ORDO:169147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060297"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 4a deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060298 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:614379"^^xsd:string, "ORDO:169147"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060298"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 4b deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060299 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:612446"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060299"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 6 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060300 obo:IAO_0000115 "A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:610102"^^xsd:string, "ORDO:1695150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060300"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 7 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060301 obo:IAO_0000115 "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:613790"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060301"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "type I complement component 8 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060302 obo:IAO_0000115 "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:613789"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060302"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "type II complement component 8 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060303 obo:IAO_0000115 "A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T15:32:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.1"^^xsd:string, "OMIM:613825"^^xsd:string, "ORDO:169150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060303"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "complement component 9 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_626 . obo:DOID_0060304 obo:IAO_0000115 "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-09T16:53:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1996"^^xsd:string, "MESH:C535730"^^xsd:string, "NCI:C173131"^^xsd:string, "OMIM:127500"^^xsd:string, "OMIM:612715"^^xsd:string, "OMIM:615402"^^xsd:string, "ORDO:241"^^xsd:string, "UMLS_CUI:C2930995"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060304"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "dyschromatosis universalis hereditaria"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_0060305 obo:IAO_0000115 "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-10T12:29:54Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C562829"^^xsd:string, "OMIM:249300"^^xsd:string, "OMIM:309300"^^xsd:string, "ORDO:91489"^^xsd:string, "SNOMEDCT_US_2021_03_01:204118005"^^xsd:string, "UMLS_CUI:C0344530"^^xsd:string ; oboInOwl:hasExactSynonym "anterior megalophthalmos"@en, "congenital anterior megalophthalmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060305"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "megalocornea"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10124, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060306 obo:IAO_0000115 "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-10T12:40:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2033"^^xsd:string, "MESH:C538012"^^xsd:string, "OMIM:PS224690"^^xsd:string, "ORDO:2554"^^xsd:string, "SNOMEDCT_US_2021_03_01:703508009"^^xsd:string, "UMLS_CUI:C1868684"^^xsd:string ; oboInOwl:hasExactSynonym "ear-patella-short stature syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060306"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "Meier-Gorlin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060307 obo:IAO_0000115 "A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-10T16:47:55Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12107"^^xsd:string, "OMIM:PS156200"^^xsd:string, "ORDO:178469"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant mental retardation"@en, "autosomal dominant non-syndromic mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060307"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "autosomal dominant non-syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050889, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060308 obo:IAO_0000115 "A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-11T10:32:11Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:249500"^^xsd:string, "OMIM:607417"^^xsd:string, "OMIM:608443"^^xsd:string, "OMIM:611090"^^xsd:string, "OMIM:611091"^^xsd:string, "OMIM:611092"^^xsd:string, "OMIM:611093"^^xsd:string, "OMIM:611095"^^xsd:string, "OMIM:611096"^^xsd:string, "OMIM:611097"^^xsd:string, "OMIM:611107"^^xsd:string, "OMIM:614020"^^xsd:string, "OMIM:614208"^^xsd:string, "OMIM:614249"^^xsd:string, "OMIM:614329"^^xsd:string, "OMIM:614333"^^xsd:string, "OMIM:614340"^^xsd:string, "OMIM:614341"^^xsd:string, "OMIM:614342"^^xsd:string, "OMIM:614343"^^xsd:string, "OMIM:614344"^^xsd:string, "OMIM:614345"^^xsd:string, "OMIM:614346"^^xsd:string, "OMIM:614347"^^xsd:string, "OMIM:614499"^^xsd:string, "OMIM:615493"^^xsd:string, "OMIM:615516"^^xsd:string, "OMIM:615541"^^xsd:string, "OMIM:615599"^^xsd:string, "OMIM:615637"^^xsd:string, "OMIM:615802"^^xsd:string, "OMIM:615817"^^xsd:string, "OMIM:615942"^^xsd:string, "ORDO:88616"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive mental retardation"@en, "autosomal recessive non-syndromic mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060308"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "autosomal recessive non-syndromic intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050889, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060309 obo:IAO_0000115 "A syndromic intellectual characterized by an X-linked inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-11T16:14:46Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS309510"^^xsd:string ; oboInOwl:hasExactSynonym "syndromic X-linked mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060309"^^xsd:string ; a owl:Class ; rdfs:comment "NT MGI."^^xsd:string ; rdfs:label "syndromic X-linked intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0060310 obo:IAO_0000115 "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-16T13:26:27Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K12.2"^^xsd:string, "MEDDRA:10051962"^^xsd:string ; oboInOwl:hasExactSynonym "acute uvulitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060310"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "uvulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0060311 obo:IAO_0000115 "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-16T13:35:56Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J35.2"^^xsd:string, "ICD9CM:474.12"^^xsd:string, "MEDDRA:10001229"^^xsd:string, "SNOMEDCT_US_2021_03_01:111591002"^^xsd:string, "UMLS_CUI:C0149825"^^xsd:string ; oboInOwl:hasExactSynonym "adenoidal hypertrophy"@en, "enlarged adenoids"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060311"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "adenoid hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_0060312 obo:IAO_0000115 "A cheilitis characterized by inflammation of one or both of the corners of the mouth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-19T15:57:00Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K13.0"^^xsd:string, "NCI:C112198"^^xsd:string, "SNOMEDCT_US_2021_03_01:200729007"^^xsd:string, "UMLS_CUI:C0221237"^^xsd:string ; oboInOwl:hasExactSynonym "angular cheilosis"@en, "angular stomatitis"@en, "cheilosis"@en, "commissural cheilitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "angular cheilitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1762, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0060313 obo:IAO_0000115 "A tracheal disease characterized by flaccidity of the tracheal support cartilage."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-20T16:02:03Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q32.0"^^xsd:string, "MESH:C557675"^^xsd:string, "ORDO:95430"^^xsd:string, "SNOMEDCT_US_2021_03_01:95467005"^^xsd:string, "UMLS_CUI:C0392109"^^xsd:string ; oboInOwl:hasExactSynonym "congenital tracheomalacia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060313"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "tracheomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_3225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000032 ] . obo:DOID_0060314 obo:IAO_0000115 "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-23T14:33:26Z"^^xsd:string ; oboInOwl:hasExactSynonym "PGL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060314"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "persistent generalized lymphadenopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9942 . obo:DOID_0060315 obo:IAO_0000115 "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-23T15:55:53Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K13.3"^^xsd:string, "MESH:D017733"^^xsd:string, "NCI:C3722"^^xsd:string, "SNOMEDCT_US_2021_03_01:58918007"^^xsd:string, "UMLS_CUI:C0206186"^^xsd:string ; oboInOwl:hasExactSynonym "hairy leukoplakia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060315"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oral hairy leukoplakia"^^xsd:string ; rdfs:subClassOf obo:DOID_403 . obo:DOID_0060316 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-09T17:15:07Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:D009958"^^xsd:string, "NCI:C75481"^^xsd:string, "OMIM:311200"^^xsd:string, "ORDO:2750"^^xsd:string, "SNOMEDCT_US_2021_03_01:1779005"^^xsd:string, "SNOMEDCT_US_2021_03_01:403773005"^^xsd:string, "SNOMEDCT_US_2021_03_01:52868006"^^xsd:string, "UMLS_CUI:C0026363"^^xsd:string, "UMLS_CUI:C0029294"^^xsd:string, "UMLS_CUI:C1510460"^^xsd:string ; oboInOwl:hasExactSynonym "Papillon-Leage-Psaume syndrome"@en, "orofaciodigital syndrome 1"@en, "orofaciodigital syndrome type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060316"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome I"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060317 obo:IAO_0000115 "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-23T16:58:49Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J85.2"^^xsd:string, "ICD9CM:513.0"^^xsd:string, "MESH:D008169"^^xsd:string, "NCI:C99090"^^xsd:string, "SNOMEDCT_US_2021_03_01:155618005"^^xsd:string, "UMLS_CUI:C0024110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060317"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lung abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0060318 obo:IAO_0000115 "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-24T16:50:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:538"^^xsd:string, "ICD10CM:C92.4"^^xsd:string, "MESH:D015473"^^xsd:string, "NCI:C3182"^^xsd:string, "OMIM:612376"^^xsd:string, "ORDO:520"^^xsd:string, "SNOMEDCT_US_2021_03_01:28950004"^^xsd:string, "UMLS_CUI:C0023487"^^xsd:string ; oboInOwl:hasExactSynonym "acute myeloblastic leukaemia type 3"@en, "acute myeloblastic leukemia type 3"@en, "acute myeloid leukaemia M3"@en, "acute myeloid leukemia M3"@en, "acute promyelocytic leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060318"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute promyelocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0060319 obo:IAO_0000115 "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T15:12:30Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I46"^^xsd:string, "ICD9CM:427.5"^^xsd:string, "MESH:D006323"^^xsd:string, "NCI:C50479"^^xsd:string, "NCI:C50483"^^xsd:string, "SNOMEDCT_US_2021_03_01:30298009"^^xsd:string, "UMLS_CUI:C0018790"^^xsd:string, "UMLS_CUI:C0600228"^^xsd:string ; oboInOwl:hasExactSynonym "cardiopulmonary arrest"@en, "circulatory arrest"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060319"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiac arrest"^^xsd:string ; rdfs:subClassOf obo:DOID_6000, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_0060320 obo:IAO_0000115 "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T15:54:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K40"^^xsd:string, "ICD9CM:550"^^xsd:string, "MESH:D006552"^^xsd:string, "NCI:C34690"^^xsd:string, "NCI:C34691"^^xsd:string, "NCI:C34692"^^xsd:string, "SNOMEDCT_US_2021_03_01:155738001"^^xsd:string, "SNOMEDCT_US_2021_03_01:196800008"^^xsd:string, "UMLS_CUI:C0019294"^^xsd:string, "UMLS_CUI:C0019295"^^xsd:string, "UMLS_CUI:C0019296"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060320"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "inguinal hernia"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0060321 obo:IAO_0000115 "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T15:58:35Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q79.2"^^xsd:string, "ICD9CM:756.72"^^xsd:string, "MESH:D006554"^^xsd:string, "NCI:C98997"^^xsd:string, "SNOMEDCT_US_2021_03_01:49324006"^^xsd:string, "SNOMEDCT_US_2021_03_01:5867007"^^xsd:string, "UMLS_CUI:C0795690"^^xsd:string, "UMLS_CUI:C1306503"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060321"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "umbilical hernia"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0060322 obo:IAO_0000115 "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T16:29:09Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H70.9"^^xsd:string, "ICD9CM:383.9"^^xsd:string, "MESH:D008417"^^xsd:string, "NCI:C128368"^^xsd:string, "SNOMEDCT_US_2021_03_01:155230007"^^xsd:string, "UMLS_CUI:C0024904"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060322"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mastoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3342, obo:DOID_5100, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] . obo:DOID_0060323 obo:IAO_0000115 "A breast disease characterized by a collection of pus in the breast."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:21:01Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060323"^^xsd:string ; a owl:Class ; rdfs:label "breast abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_0060324 obo:IAO_0000115 "A tooth disease characterized by a localized collection of pus associated with a tooth."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:25:03Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K04.6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060324"^^xsd:string ; a owl:Class ; rdfs:label "dental abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_1091 . obo:DOID_0060325 obo:IAO_0000115 "A cervix disease characterized by a benign polyp on the surface of the cervical canal."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:33:54Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D26.9"^^xsd:string, "ICD9CM:219"^^xsd:string, "SNOMEDCT_US_2021_03_01:189107007"^^xsd:string, "UMLS_CUI:C0153996"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060325"^^xsd:string ; a owl:Class ; rdfs:label "cervical polyp"^^xsd:string ; rdfs:subClassOf obo:DOID_2253 . obo:DOID_0060326 obo:IAO_0000115 "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:47:25Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q05"^^xsd:string, "MESH:D008591"^^xsd:string, "NCI:C101201"^^xsd:string, "NCI:C98874"^^xsd:string, "SNOMEDCT_US_2021_03_01:268308005"^^xsd:string, "SNOMEDCT_US_2021_03_01:7096005"^^xsd:string, "UMLS_CUI:C0025312"^^xsd:string, "UMLS_CUI:C0086664"^^xsd:string, "UMLS_CUI:C0751316"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060326"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myelomeningocele"^^xsd:string ; rdfs:subClassOf obo:DOID_0080016, obo:DOID_319, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] . obo:DOID_0060327 obo:IAO_0000115 "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-02-25T17:54:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q79.2"^^xsd:string, "ICD9CM:756.72"^^xsd:string, "MESH:D006554"^^xsd:string, "NCI:C98997"^^xsd:string, "OMIM:164750"^^xsd:string, "SNOMEDCT_US_2021_03_01:49324006"^^xsd:string, "SNOMEDCT_US_2021_03_01:5867007"^^xsd:string, "UMLS_CUI:C0795690"^^xsd:string, "UMLS_CUI:C1306503"^^xsd:string ; oboInOwl:hasExactSynonym "omphalocoele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "omphalocele"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0060328 obo:IAO_0000115 "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-02-25T19:05:13Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K60.3"^^xsd:string, "MESH:D012003"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060328"^^xsd:string ; a owl:Class ; rdfs:label "anal fistula"^^xsd:string ; rdfs:subClassOf obo:DOID_1285 . obo:DOID_0060329 obo:IAO_0000115 "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-02-25T19:27:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6318"^^xsd:string, "ICD10CM:O00"^^xsd:string, "ICD9CM:633"^^xsd:string, "MESH:D011271"^^xsd:string, "NCI:C34945"^^xsd:string, "SNOMEDCT_US_2021_03_01:156080003"^^xsd:string, "UMLS_CUI:C0032987"^^xsd:string ; oboInOwl:hasExactSynonym "eccyesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060329"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ectopic pregnancy"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_0060330 obo:IAO_0000115 "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T13:47:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:5690"^^xsd:string, "MESH:C535289"^^xsd:string, "OMIM:129400"^^xsd:string, "ORDO:3022"^^xsd:string ; oboInOwl:hasExactSynonym "RHS"@en, "anhidrotic ectodermal dysplasia with cleft lip/palate"@en, "ectodermal dysplasia syndrome, Rapp-Hodgkin type"@en, "ectodermal dysplasia, Rapp-Hodgkin type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060330"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Part of AEC spectrum. Research more."^^xsd:string ; rdfs:label "Rapp-Hodgkin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060331 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:04:59Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.3"^^xsd:string, "OMIM:614052"^^xsd:string, "ORDO:1194"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN2"@en, "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060331"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060332 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:04:59Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.8"^^xsd:string, "OMIM:614053"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060332"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060333 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:04:59Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.8"^^xsd:string, "OMIM:615228"^^xsd:string, "ORDO:254913"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060333"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060334 obo:IAO_0000115 "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-03-12T16:59:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1839"^^xsd:string, "ICD10CM:P70.2"^^xsd:string, "OMIM:601410"^^xsd:string, "OMIM:610374"^^xsd:string, "OMIM:610582"^^xsd:string, "ORDO:99886"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060334"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "transient neonatal diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_11717 . obo:DOID_0060335 obo:IAO_0000115 "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-04-16T10:44:34Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:182170"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060335"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant sideroblastic anemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060336 obo:IAO_0000115 "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-04-16T10:50:48Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.111"^^xsd:string, "MESH:C579867"^^xsd:string, "OMIM:PS250950"^^xsd:string, "ORDO:289902"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060336"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0060159 . obo:DOID_0060337 obo:IAO_0000115 "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-11T10:31:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537943"^^xsd:string, "OMIM:609528"^^xsd:string, "ORDO:66631"^^xsd:string, "SNOMEDCT_US_2021_03_01:722385008"^^xsd:string, "UMLS_CUI:C1836033"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060337"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Flybase."^^xsd:string ; rdfs:label "CEDNIK syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060338 obo:IAO_0000115 "An embryonal rhabdomyosarcoma located in the parameningeal region."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-14T14:32:27Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060338"^^xsd:string ; a owl:Class ; rdfs:label "parameningeal embryonal rhabdomyosarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3246 . obo:DOID_0060339 obo:IAO_0000115 "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-18T15:37:53Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616201"^^xsd:string ; oboInOwl:hasExactSynonym "CAID syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060339"^^xsd:string ; a owl:Class ; rdfs:label "chronic atrial and intestinal dysrhythmia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060340 obo:IAO_0000115 "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-21T10:41:29Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060340"^^xsd:string ; a owl:Class ; rdfs:label "ciliopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060341 obo:IAO_0000115 "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-26T16:14:08Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q18.2"^^xsd:string, "MESH:C562503"^^xsd:string, "OMIM:202650"^^xsd:string, "ORDO:990"^^xsd:string ; oboInOwl:hasExactSynonym "agnathia-holoprosencephaly-situs inversus syndrome"@en, "dysgnathia complex agnathia-holoprosencephaly"@en, "holoprosencephaly-agnathia"@en, "otocephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060341"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "agnathia-otocephaly complex"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0060342 obo:IAO_0000115 "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-26T16:44:46Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2393"^^xsd:string, "GARD:5539"^^xsd:string, "MESH:C566345"^^xsd:string, "OMIM:603671"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060342"^^xsd:string ; a owl:Class ; rdfs:label "acromelic frontonasal dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0060343 obo:IAO_0000115 "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-27T17:07:43Z"^^xsd:string ; oboInOwl:hasExactSynonym "steroid-induced osteoporosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060343"^^xsd:string ; a owl:Class ; rdfs:label "glucocorticoid-induced osteoporosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11476, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060344 obo:IAO_0000115 "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-28T14:45:56Z"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:701.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:201088002"^^xsd:string, "UMLS_CUI:C0029805"^^xsd:string ; oboInOwl:hasExactSynonym "Herxheimer disease"@en, "primary diffuse atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060344"^^xsd:string ; oboInOwl:inSubset doid:GOLD ; a owl:Class ; rdfs:label "acrodermatitis chronica atrophicans"^^xsd:string ; rdfs:subClassOf obo:DOID_2722 . obo:DOID_0060345 obo:IAO_0000115 "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-05-28T16:26:12Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016917"^^xsd:string, "NCI:C3477"^^xsd:string, "SNOMEDCT_US_2021_03_01:58213005"^^xsd:string, "UMLS_CUI:C0085434"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060345"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacillary angiomatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11102 . obo:DOID_0060346 obo:IAO_0000115 "A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-06-01T17:47:31Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8432"^^xsd:string, "MESH:C538343"^^xsd:string, "OMIM:255995"^^xsd:string, "ORDO:168572"^^xsd:string, "SNOMEDCT_US_2021_03_01:723439002"^^xsd:string, "UMLS_CUI:C1850625"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060346"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Native American myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060347 obo:IAO_0000115 "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes."^^xsd:string ; oboInOwl:created_by "emitraka"^^xsd:string ; oboInOwl:creation_date "2015-06-04T14:51:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563159"^^xsd:string, "OMIM:102520"^^xsd:string, "OMIM:201310"^^xsd:string, "SNOMEDCT_US_2021_03_01:720458005"^^xsd:string, "UMLS_CUI:C3495490"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060347"^^xsd:string ; a owl:Class ; rdfs:label "acrorenal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060348 obo:IAO_0000115 "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-06-19T20:05:16Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:411"^^xsd:string, "MESH:C537157"^^xsd:string, "NCI:C133727"^^xsd:string, "OMIM:241410"^^xsd:string, "ORDO:2323"^^xsd:string, "UMLS_CUI:C1855840"^^xsd:string ; oboInOwl:hasExactSynonym "HRD syndrome"@en, "Sanjad-Sakati syndrome"@en, "hypoparathyroidism with short stature, mental retardation and seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060348"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoparathyroidism-retardation-dysmorphism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060349 obo:IAO_0000115 "A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-06-24T22:12:55Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537711"^^xsd:string, "OMIM:152950"^^xsd:string, "ORDO:2526"^^xsd:string, "UMLS_CUI:C1835265"^^xsd:string ; oboInOwl:hasExactSynonym "chorioretinal dysplasia-microcephaly-mental retardation syndrome"@en, "lymphedema and retinal folds with ficrocephaly and microphthalmos"@en, "lymphedema, microcephaly and chorioretinopathy syndrome"@en, "microcephaly lymphedema chorioretinal dysplasia"@en, "microcephaly, lymphedema, chorioretinal dysplasia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060349"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060350 obo:IAO_0000115 "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-02T16:06:22Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10666"^^xsd:string, "GARD:546"^^xsd:string, "MESH:C538228"^^xsd:string, "NCI:C121564"^^xsd:string, "OMIM:614723"^^xsd:string, "SNOMEDCT_US_2021_03_01:11852004"^^xsd:string, "UMLS_CUI:C0268120"^^xsd:string, "UMLS_CUI:C3665382"^^xsd:string ; oboInOwl:hasExactSynonym "2,8-dihydroxyadenine urolithiasis"@en, "APRT deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenine phosphoribosyltransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_653, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060351 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-14T16:24:56Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615157"^^xsd:string ; oboInOwl:hasExactSynonym "MC3DN2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060351"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060352 obo:IAO_0000115 "Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-14T16:49:09Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070075"^^xsd:string ; oboInOwl:hasDbXref "GARD:8672"^^xsd:string, "MESH:C563043"^^xsd:string, "NCI:C129976"^^xsd:string, "OMIM:610253"^^xsd:string, "ORDO:261494"^^xsd:string, "SNOMEDCT_US_2021_03_01:724207001"^^xsd:string, "UMLS_CUI:C0795833"^^xsd:string ; oboInOwl:hasExactSynonym "9q subtelomeric deletion syndrome"@en, "9q-syndrome"@en, "9q34 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060352"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kleefstra syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_0080597, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060353 obo:IAO_0000115 "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-15T16:37:59Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616462"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060353"^^xsd:string ; a owl:Class ; rdfs:label "acrofacial dysostosis Cincinnati type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060379, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000272 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000347 ] . obo:DOID_0060354 obo:IAO_0000115 "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-16T16:30:32Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566108"^^xsd:string, "OMIM:185070"^^xsd:string, "ORDO:3204"^^xsd:string, "SNOMEDCT_US_2021_03_01:711407000"^^xsd:string, "UMLS_CUI:C1861451"^^xsd:string ; oboInOwl:hasExactSynonym "thrombocytopathy, asplenia and miosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060354"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Stormorken syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060355 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-07-22T11:37:41Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616208"^^xsd:string ; oboInOwl:hasExactSynonym "ALS 22"@en, "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia"@en, "amyotrophic lateral sclerosis 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060355"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 22"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0060356 obo:IAO_0000115 "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-08-19T16:22:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:448"^^xsd:string, "MESH:C535566"^^xsd:string, "NCI:C138174"^^xsd:string, "OMIM:242840"^^xsd:string, "ORDO:1493"^^xsd:string, "SNOMEDCT_US_2021_03_01:719824001"^^xsd:string, "UMLS_CUI:C1855772"^^xsd:string ; oboInOwl:hasExactSynonym "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060356"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Vici syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060357 obo:IAO_0000115 "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-08-20T12:44:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9683"^^xsd:string, "ICD10CM:E78.3"^^xsd:string, "MESH:C535460"^^xsd:string, "OMIM:246700"^^xsd:string, "ORDO:71"^^xsd:string, "SNOMEDCT_US_2021_03_01:702364003"^^xsd:string, "UMLS_CUI:C0795956"^^xsd:string ; oboInOwl:hasExactSynonym "Anderson disease"@en, "CMRD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060357"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chylomicron retention disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060358 obo:IAO_0000115 "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-08-20T16:23:47Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.313"^^xsd:string, "MESH:D054069"^^xsd:string, "NCI:C84907"^^xsd:string, "OMIM:231680"^^xsd:string, "ORDO:26791"^^xsd:string, "SNOMEDCT_US_2021_03_01:22886006"^^xsd:string, "UMLS_CUI:C0268596"^^xsd:string, "UMLS_CUI:C1856401"^^xsd:string, "UMLS_CUI:C1856403"^^xsd:string, "UMLS_CUI:C1856405"^^xsd:string ; oboInOwl:hasExactSynonym "MAD deficiency"@en, "MADD"@en, "electron transfer flavoprotein deficiency"@en, "electron transfer flavoprotein ubiquinone oxidoreductase deficiency"@en, "glutaric acidemia type 2"@en, "glutaric aciduria type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060358"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "multiple acyl-CoA dehydrogenase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0032245 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060359 obo:IAO_0000115 "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T14:23:46Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:115"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "MESH:C537227"^^xsd:string, "OMIM:101120"^^xsd:string, "ORDO:3128"^^xsd:string ; oboInOwl:hasExactSynonym "ACPS with leg hypoplasia"@en, "Sakati syndrome"@en, "Sakati-Nyhan-Tisdale syndrome"@en, "acrocephalopolysyndactyly Type III"@en, "acrocephalopolysyndactyly type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060359"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Sakati-Nyhan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12960 . obo:DOID_0060360 obo:IAO_0000115 "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T14:36:52Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C566323"^^xsd:string, "OMIM:101840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060360"^^xsd:string ; a owl:Class ; rdfs:label "hereditary papulotranslucent acrokeratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_869 . obo:DOID_0060361 obo:IAO_0000115 "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T14:50:46Z"^^xsd:string ; oboInOwl:hasDbXref "ORDO:307967"^^xsd:string, "SNOMEDCT_US_2021_03_01:402773000"^^xsd:string, "UMLS_CUI:C1274216"^^xsd:string ; oboInOwl:hasExactSynonym "punctate palmoplantar hyperkeratosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "punctate keratosis palmoplantaris"@en ; oboInOwl:id "DOID:0060361"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0060362 obo:IAO_0000115 "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-03T15:31:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535653"^^xsd:string, "OMIM:101850"^^xsd:string, "ORDO:38"^^xsd:string, "SNOMEDCT_US_2021_03_01:111029001"^^xsd:string, "UMLS_CUI:C0545044"^^xsd:string ; oboInOwl:hasExactSynonym "acrokeratoelastoidosis of Costa"@en, "punctate palmoplantar hyperkeratosis type 3"@en, "punctate palmoplantar keratoderma type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060362"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060361, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060363 obo:IAO_0000115 "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T15:45:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:307030"^^xsd:string, "ORDO:408"^^xsd:string, "SNOMEDCT_US_2021_03_01:297256008"^^xsd:string, "UMLS_CUI:C0574108"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060363"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:label "glycerol kinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060364 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:00:31Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:251300"^^xsd:string ; oboInOwl:hasExactSynonym "Galloway syndrome"@en, "microcephaly, hiatal hernia and nephrotic syndrome"@en, "nephrosis-microcephaly syndrome"@en, "nephrosis-neuronal dysmigration syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060364"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060365 obo:IAO_0000115 "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:20:00Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616367"^^xsd:string ; oboInOwl:hasExactSynonym "MFDA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060365"^^xsd:string ; a owl:Class ; rdfs:label "mandibulofacial dysostosis with alopecia"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060366 obo:IAO_0000115 "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:36:59Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3318"^^xsd:string, "MESH:C537255"^^xsd:string, "OMIM:235510"^^xsd:string, "OMIM:616006"^^xsd:string, "ORDO:2136"^^xsd:string, "SNOMEDCT_US_2021_03_01:234146006"^^xsd:string, "UMLS_CUI:C0340834"^^xsd:string ; oboInOwl:hasExactSynonym "Hennekam lymphangiectasia-lymphedema syndrome"@en, "lymphedem-lymphangiectasia-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060366"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Hennekam syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_75 . obo:DOID_0060367 obo:IAO_0000115 "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:48:14Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:168601"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Parkinson disease 1"@en, "autosomal dominant Parkinson's disease 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060367"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060368 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T16:56:33Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:600116"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive juvenile Parkinson disease 2"@en, "autosomal recessive juvenile Parkinson's disease 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060368"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060369 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:00:11Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605909"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 6"@en, "autosomal recessive early-onset Parkinson's disease 6"@en, "early-onset Parkinson disease 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060369"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060370 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:04:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:606324"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 7"@en, "autosomal recessive early-onset Parkinson's disease 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060370"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060371 obo:IAO_0000115 "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:07:35Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:607060"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Parkinson disease 8"@en, "autosomal dominant Parkinson's disease 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060371"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060372 obo:IAO_0000115 "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-17T17:13:37Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:260300"^^xsd:string ; oboInOwl:hasExactSynonym "Parkinsonian-pyramidal syndrome"@en, "autosomal recessive early-onset Parkinson disease 15"@en, "autosomal recessive early-onset Parkinson's disease 15"@en, "pallidopyramidal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060372"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Parkinson's disease 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060373 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T14:58:32Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557817"^^xsd:string, "OMIM:258850"^^xsd:string, "ORDO:2752"^^xsd:string, "SNOMEDCT_US_2021_03_01:239030004"^^xsd:string, "UMLS_CUI:C0406726"^^xsd:string ; oboInOwl:hasExactSynonym "Sugarman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060373"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060374 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537133"^^xsd:string, "OMIM:258860"^^xsd:string, "ORDO:2753"^^xsd:string, "SNOMEDCT_US_2021_03_01:239031000"^^xsd:string, "UMLS_CUI:C0406727"^^xsd:string ; oboInOwl:hasExactSynonym "Baraitser-Burn syndrome"@en, "OFD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060374"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome IV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060375 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557819"^^xsd:string, "OMIM:174300"^^xsd:string, "ORDO:2919"^^xsd:string, "SNOMEDCT_US_2021_03_01:722105002"^^xsd:string, "UMLS_CUI:C1868118"^^xsd:string ; oboInOwl:hasExactSynonym "OFD5"@en, "orofaciodigital syndrome Thurston type"@en, "polydactyly, postaxial, with median cleft of upper lip"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060375"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060376 obo:IAO_0000115 "A Joubert syndrome that is characterized by orofaciodigital defect."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4412"^^xsd:string, "MESH:C536531"^^xsd:string, "NCI:C124841"^^xsd:string, "OMIM:277170"^^xsd:string, "ORDO:2754"^^xsd:string, "SNOMEDCT_US_2021_03_01:721873007"^^xsd:string, "UMLS_CUI:C2745997"^^xsd:string ; oboInOwl:hasExactSynonym "OFD6"@en, "Polydactyly cleft lip palate psychomotor retardation"@en, "Varadi syndrome"@en, "Varadi-Papp syndrome"@en, "orofaciodigital syndrome VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060376"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Joubert syndrome with orofaciodigital defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0060377 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563104"^^xsd:string, "OMIM:608518"^^xsd:string, "ORDO:90649"^^xsd:string ; oboInOwl:hasExactSynonym "OFD7"@en, "Whelan syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060377"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome VII"^^xsd:string ; rdfs:subClassOf obo:DOID_4501 . obo:DOID_0060378 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:19Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557820"^^xsd:string, "OMIM:300484"^^xsd:string, "ORDO:2755"^^xsd:string, "UMLS_CUI:C0796101"^^xsd:string ; oboInOwl:hasExactSynonym "Edwards syndrome"@en, "OFD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060378"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome VIII"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060379 obo:IAO_0000115 "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:24:28Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060379"^^xsd:string ; a owl:Class ; rdfs:label "acrofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0060380 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:20Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:C563491"^^xsd:string, "OMIM:165590"^^xsd:string, "ORDO:2756"^^xsd:string ; oboInOwl:hasExactSynonym "OFD10"@en, "orofaciodigital syndrome with fibular aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060380"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome X"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060381 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:00:20Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C557821"^^xsd:string, "OMIM:612913"^^xsd:string, "ORDO:141000"^^xsd:string, "UMLS_CUI:C2752048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060381"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome XI"^^xsd:string ; rdfs:subClassOf obo:DOID_4501 . obo:DOID_0060382 obo:IAO_0000115 "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-18T15:24:17Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10520"^^xsd:string, "MESH:C557818"^^xsd:string, "OMIM:258865"^^xsd:string, "ORDO:141007"^^xsd:string, "SNOMEDCT_US_2021_03_01:718680001"^^xsd:string, "UMLS_CUI:C0796102"^^xsd:string ; oboInOwl:hasExactSynonym "OFD9"@en, "orofaciodigital syndrome with retinal abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060382"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "orofaciodigital syndrome IX"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060383 obo:IAO_0000115 "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:30:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:496"^^xsd:string, "MESH:C538183"^^xsd:string, "OMIM:201170"^^xsd:string, "ORDO:1788"^^xsd:string, "SNOMEDCT_US_2021_03_01:720430002"^^xsd:string, "UMLS_CUI:C1860119"^^xsd:string ; oboInOwl:hasExactSynonym "acrofacial dysostosis, syndrome of Rodriguez"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060383"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "acrofacial dysostosis Rodriguez type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060379 . obo:DOID_0060384 obo:IAO_0000115 "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:34:09Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:494"^^xsd:string, "MESH:C538182"^^xsd:string, "OMIM:101805"^^xsd:string, "ORDO:1786"^^xsd:string, "SNOMEDCT_US_2021_03_01:720419000"^^xsd:string, "UMLS_CUI:C2931762"^^xsd:string ; oboInOwl:hasExactSynonym "Opitz Mollica Sorge syndrome"@en, "Opitz-Caltabiano syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060384"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "acrofacial dysostosis, Catania type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060379 . obo:DOID_0060385 obo:IAO_0000115 "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-21T15:38:31Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C538185"^^xsd:string, "OMIM:601829"^^xsd:string, "ORDO:1787"^^xsd:string, "SNOMEDCT_US_2021_03_01:720429007"^^xsd:string, "UMLS_CUI:C1866168"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060385"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "acrofacial dysostosis, Patagonia type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060379 . obo:DOID_0060386 obo:IAO_0000115 "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-22T17:10:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535924"^^xsd:string, "OMIM:610448"^^xsd:string, "OMIM:614415"^^xsd:string, "ORDO:90280"^^xsd:string, "UMLS_CUI:C0024145"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060386"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Chilblain lupus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050169 . obo:DOID_0060387 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-24T16:23:12Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:914"^^xsd:string, "MESH:C537914"^^xsd:string, "NCI:C131420"^^xsd:string, "OMIM:215045"^^xsd:string, "ORDO:50945"^^xsd:string, "UMLS_CUI:C1859148"^^xsd:string ; oboInOwl:hasExactSynonym "Blomstrand lethal chondrodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060387"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondrodysplasia Blomstrand type"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060388 obo:IAO_0000115 "A chromosomal disease that has_material_basis_in partial deletion of chromosomes."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T15:48:41Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060388"^^xsd:string ; a owl:Class ; rdfs:label "chromosomal deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0060389 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T15:50:18Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567385"^^xsd:string, "OMIM:612242"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060389"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 10q23 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060390 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:08:42Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "MESH:C567182"^^xsd:string, "OMIM:609625"^^xsd:string, "ORDO:96148"^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 10q26 deletion syndrome"@en, "distal monosomy 10q"@en, "monosomy 10qter"@en, "telomeric deletion 10q"@en, "terminal chromosome 10q26 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060390"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "distal 10q deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060391 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:14:46Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613884"^^xsd:string, "ORDO:1587"^^xsd:string ; oboInOwl:hasExactSynonym "deletion 13q14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060391"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 13q14 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060392 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:18:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613457"^^xsd:string, "ORDO:261120"^^xsd:string ; oboInOwl:hasExactSynonym "14q11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060392"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 14q11-q22 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060393 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:21:07Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615656"^^xsd:string, "ORDO:261183"^^xsd:string, "UMLS_CUI:C3180937"^^xsd:string ; oboInOwl:hasExactSynonym "15q11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060393"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060394 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:23:21Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10296"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "MESH:C567439"^^xsd:string, "OMIM:612001"^^xsd:string, "ORDO:199318"^^xsd:string ; oboInOwl:hasExactSynonym "15q13.3 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060394"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q13.3 microdeletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060395 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:25:55Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12219"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "MESH:C579849"^^xsd:string, "OMIM:613406"^^xsd:string, "ORDO:94065"^^xsd:string ; oboInOwl:hasExactSynonym "15q24 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060395"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q24 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060396 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:28:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614294"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060396"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 15q25 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060397 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:30:51Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "MESH:C567232"^^xsd:string, "OMIM:612626"^^xsd:string, "ORDO:1596"^^xsd:string ; oboInOwl:hasExactSynonym "15q26 deletion syndrome"@en, "Drayer syndrome"@en, "distal 15q deletion syndrome"@en, "distal monosomy 15q"@en, "telomeric 15q deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060397"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 15q26-qter deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060398 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:35:34Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613444"^^xsd:string, "ORDO:261222"^^xsd:string ; oboInOwl:hasExactSynonym "distal 16p11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060398"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060399 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:36:57Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:136570"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060399"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 16p12.1 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060400 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:42:38Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613604"^^xsd:string, "ORDO:261211"^^xsd:string ; oboInOwl:hasExactSynonym "16p11.2-p12.2 microdeletion syndrome"@en, "16p11.2p12.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060400"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p12.2-p11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060401 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:46:03Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614541"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060401"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 16q22 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060402 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:49:53Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10996"^^xsd:string, "MESH:D054221"^^xsd:string, "OMIM:613776"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060402"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 17p13.1 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060403 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:52:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q85.0"^^xsd:string, "OMIM:613675"^^xsd:string, "ORDO:97685"^^xsd:string ; oboInOwl:hasExactSynonym "17q11 microdeletion syndrome"@en, "NF1 microdeletion syndrome"@en, "Van Asperen syndrome"@en, "neurofibromatosis type 1 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060403"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060404 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:55:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13297"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:614527"^^xsd:string, "ORDO:261265"^^xsd:string ; oboInOwl:hasExactSynonym "17q12 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060404"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q12 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060405 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T16:58:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10936"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:613355"^^xsd:string, "ORDO:261279"^^xsd:string ; oboInOwl:hasExactSynonym "17q23.1-q23.2 microdeletion syndrome"@en, "17q23.1q23.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060405"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q23.1-q23.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060406 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:01:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8631"^^xsd:string, "MESH:C538309"^^xsd:string, "NCI:C84521"^^xsd:string, "OMIM:146390"^^xsd:string, "ORDO:1598"^^xsd:string, "SNOMEDCT_US_2021_03_01:205632001"^^xsd:string, "UMLS_CUI:C0432442"^^xsd:string ; oboInOwl:hasExactSynonym "18p- syndrome"@en, "De Grouchy syndrome"@en, "monosomy 18p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060406"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chromosome 18p deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060407 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:05:53Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "MESH:C536580"^^xsd:string, "OMIM:601808"^^xsd:string, "ORDO:1600"^^xsd:string ; oboInOwl:hasExactSynonym "18q- syndrome"@en, "deletion 18q"@en, "monosomy 18q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060407"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 18q deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060408 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:09:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10592"^^xsd:string, "MESH:C567810"^^xsd:string, "OMIM:613026"^^xsd:string, "ORDO:217346"^^xsd:string, "UMLS_CUI:C2751651"^^xsd:string ; oboInOwl:hasExactSynonym "19q13.11 microdeletion syndrome"@en, "monosomy 19q13.11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060408"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 19q13.11 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060409 obo:IAO_0000115 "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:12:14Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613735"^^xsd:string, "ORDO:401986"^^xsd:string ; oboInOwl:hasExactSynonym "1p31p32 microdeletion syndrome"@en, "brain malformations with or without urinary tract defects"^^xsd:string, "chromosome 1p32-p31 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060409"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "NFIA-related disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060410 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:14:10Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6082"^^xsd:string, "MESH:C535362"^^xsd:string, "NCI:C74983"^^xsd:string, "OMIM:607872"^^xsd:string, "ORDO:1606"^^xsd:string, "SNOMEDCT_US_2021_03_01:699306003"^^xsd:string, "UMLS_CUI:C1842870"^^xsd:string ; oboInOwl:hasExactSynonym "1p36 deletion syndrome"@en, "deletion 1p36"@en, "monosomy 1p36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "subtelomeric 1p36 deletion"@en ; oboInOwl:id "DOID:0060410"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chromosome 1p36 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060411 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:17:38Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10813"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:612474"^^xsd:string, "ORDO:250989"^^xsd:string ; oboInOwl:hasExactSynonym "1q21.1 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "monosomy 1q21.1"@en ; oboInOwl:id "DOID:0060411"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 1q21.1 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060412 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:24:43Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3738"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:612530"^^xsd:string, "ORDO:250999"^^xsd:string ; oboInOwl:hasExactSynonym "1q41-q42 microdeletion syndrome"@en, "1q41q42 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060412"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 1q41-q42 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060413 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:28:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:611867"^^xsd:string, "ORDO:261330"^^xsd:string ; oboInOwl:hasExactSynonym "22q11.2 deletion syndrome"^^xsd:string, "distal 22q11.2 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060413"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 22q11.2 deletion syndrome, distal"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060414 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:31:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613564"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060414"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2p12-p11.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060415 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:32:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13391"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "OMIM:612513"^^xsd:string, "ORDO:261349"^^xsd:string ; oboInOwl:hasExactSynonym "2p15p16.1 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "2p15-p16.1 microdeletion syndrome"@en ; oboInOwl:id "DOID:0060415"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 2p16.1-p15 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060416 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:36:55Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612345"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060416"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2q31.2 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060417 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:38:32Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:613792"^^xsd:string, "ORDO:1620"^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 3pter-P25 deletion syndrome"@en, "distal monosomy 3p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060417"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "3p deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060418 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:42:28Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536808"^^xsd:string, "OMIM:615433"^^xsd:string, "ORDO:1621"^^xsd:string, "SNOMEDCT_US_2021_03_01:726705007"^^xsd:string, "UMLS_CUI:C2931338"^^xsd:string ; oboInOwl:hasExactSynonym "3q13 microdeletion syndrome"@en, "monosomy 3q13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060418"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 3q13.31 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060419 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:45:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11974"^^xsd:string, "MESH:C567184"^^xsd:string, "OMIM:609425"^^xsd:string, "ORDO:65286"^^xsd:string ; oboInOwl:hasExactSynonym "3q subtelomere deletion syndrome"@en, "3q29 microdeletion syndrome"@en, "3q29 recurrent deletion"^^xsd:string, "3qter deletion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060419"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 3q29 microdeletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060420 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:49:18Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613509"^^xsd:string, "ORDO:238750"^^xsd:string ; oboInOwl:hasExactSynonym "4q21 microdeletion syndrome"@en, "monosomy 4q21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060420"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 4q21 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060421 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:52:47Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615668"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060421"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 5q12 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060422 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:55:16Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:612582"^^xsd:string, "ORDO:96125"^^xsd:string ; oboInOwl:hasExactSynonym "6p subtelomeric deletion syndrome"@en, "6p25 microdeletion syndrome"@en, "distal monosomy 6p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060422"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 6pter-p24 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060423 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:58:28Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613544"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060423"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 6q11-q14 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060424 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T17:59:36Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612863"^^xsd:string, "ORDO:251056"^^xsd:string ; oboInOwl:hasExactSynonym "6q25 microdeletion syndrome"@en, "monosomy 6q25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060424"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 6q24-q25 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060425 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-28T18:06:23Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:614230"^^xsd:string, "ORDO:284160"^^xsd:string ; oboInOwl:hasExactSynonym "8q21.11 microdeletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060425"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 8q21.11 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060426 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-29T15:26:36Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613638"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060426"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 19p13.13 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060427 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-09-29T16:13:28Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q99.8"^^xsd:string, "OMIM:300679"^^xsd:string, "ORDO:261476"^^xsd:string ; oboInOwl:hasExactSynonym "Xp21 microdeletion syndrome"@en, "complex glycerol kinase deficiency"@en, "monosomy Xp21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060427"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome Xp21 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060428 obo:IAO_0000115 "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-01T15:37:11Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:612313"^^xsd:string, "ORDO:251019"^^xsd:string ; oboInOwl:hasExactSynonym "2q32-q33 microdeletion syndrome"@en, "2q32q33 microdeletion syndrome"@en, "Glass syndrome"@en, "chromosome 2q32-q33 deletion syndrome"^^xsd:string, "monosomy 2q32"@en, "monosomy 2q32-q33"@en, "monosomy 2q32q33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060428"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "SATB2-associated syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0060429 obo:IAO_0000115 "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:19:23Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060429"^^xsd:string ; a owl:Class ; rdfs:label "chromosomal duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0060430 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:19:40Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:614671"^^xsd:string, "ORDO:370079"^^xsd:string ; oboInOwl:hasExactSynonym "proximal 16p11.2 microduplication syndrome"@en, "proximal dup(16)(p11.2)"@en, "proximal trisomy 16p11.2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060430"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p11.2 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060431 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:43:05Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613458"^^xsd:string, "ORDO:96078"^^xsd:string ; oboInOwl:hasExactSynonym "16p13.3 microduplication syndrome"@en, "distal duplication 16p"@en, "distal trisomy 16p"@en, "telomeric duplication 16p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060431"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 16p13.3 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060432 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:45:43Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613215"^^xsd:string, "ORDO:217385"^^xsd:string ; oboInOwl:hasExactSynonym "17p13.3 duplication syndrome"@en, "17p13.3 microduplication syndrome"@en, "chromosome 17p13.3 centromeric duplication syndrome"@en, "trisomy 17p13.3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060432"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17p13.3 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060433 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:49:05Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:13296"^^xsd:string, "ICD10CM:Q92.3"^^xsd:string, "OMIM:614526"^^xsd:string, "ORDO:261272"^^xsd:string ; oboInOwl:hasExactSynonym "17q12 microduplication syndrome"@en, "trisomy 17q12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060433"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q12 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060434 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T15:50:26Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613533"^^xsd:string, "ORDO:217340"^^xsd:string ; oboInOwl:hasExactSynonym "17q21.31 microduplication syndrome"@en, "trisomy 17q21.31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060434"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 17q21.31 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060435 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T16:58:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10591"^^xsd:string, "ICD10CM:Q92.3"^^xsd:string, "OMIM:612475"^^xsd:string, "ORDO:250994"^^xsd:string ; oboInOwl:hasExactSynonym "1q21.1 microduplication syndrome"@en, "trisomy 1q21.1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060435"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 1q21.1 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060436 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T17:02:03Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "MESH:C567224"^^xsd:string, "OMIM:608363"^^xsd:string, "ORDO:1727"^^xsd:string ; oboInOwl:hasExactSynonym "22q11.2 microduplication syndrome"@en, "duplication 22q11.2"@en, "trisomy 22q11.2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060436"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 22q11.2 microduplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060437 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-02T17:11:03Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615538"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060437"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 22q13 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060438 obo:IAO_0000115 "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-06T16:24:18Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535963"^^xsd:string, "NCI:C130985"^^xsd:string, "OMIM:112240"^^xsd:string, "OMIM:616294"^^xsd:string, "ORDO:2050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060438"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cole-Carpenter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0060439 obo:IAO_0000115 "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-13T15:04:00Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3335"^^xsd:string, "MESH:C562687"^^xsd:string, "NCI:C121563"^^xsd:string, "OMIM:222700"^^xsd:string, "ORDO:470"^^xsd:string, "SNOMEDCT_US_2021_03_01:13138006"^^xsd:string, "UMLS_CUI:C0268647"^^xsd:string ; oboInOwl:hasExactSynonym "LPI"@en, "dibasic amino aciduria II"@en, "hyperdibasic aminoaciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060439"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lysinuric protein intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060440 obo:IAO_0000115 "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:37:13Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060440"^^xsd:string ; a owl:Class ; rdfs:label "epithelial and subepithelial dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060441 obo:IAO_0000115 "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:39:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060441"^^xsd:string ; a owl:Class ; rdfs:label "epithelial-stromal TGFBI dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060442 obo:IAO_0000115 "A corneal dystrophy that affects the corneal stroma."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:39:25Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060442"^^xsd:string ; a owl:Class ; rdfs:label "stromal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060443 obo:IAO_0000115 "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:39:25Z"^^xsd:string ; oboInOwl:hasExactSynonym "endothelial dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060443"^^xsd:string ; a owl:Class ; rdfs:label "corneal endothelial dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060444 obo:IAO_0000115 "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T16:44:27Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535474"^^xsd:string, "OMIM:607541"^^xsd:string, "ORDO:98963"^^xsd:string, "SNOMEDCT_US_2021_03_01:397568004"^^xsd:string, "UMLS_CUI:C1275685"^^xsd:string ; oboInOwl:hasExactSynonym "CGD2"@en, "avellino corneal dystrophy"@en, "combined granular-lattice corneal dystrophy"@en, "corneal dystrophy, Avellino type"@en, "granular corneal dystrophy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060444"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "granular corneal dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12318, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060445 obo:IAO_0000115 "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:09:23Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C566452"^^xsd:string, "OMIM:610048"^^xsd:string, "ORDO:101068"^^xsd:string ; oboInOwl:hasExactSynonym "CSCD"@en, "congenital hereditary stromal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060445"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "congenital stromal corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060442, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060446 obo:IAO_0000115 "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:13:34Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567587"^^xsd:string, "OMIM:300779"^^xsd:string, "ORDO:293621"^^xsd:string ; oboInOwl:hasExactSynonym "XECD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060446"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "X-linked endothelial corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060443, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060447 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:17:01Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C535477"^^xsd:string, "OMIM:121820"^^xsd:string, "ORDO:98956"^^xsd:string ; oboInOwl:hasExactSynonym "Cogan corneal dystrophy"@en, "EBMD"@en, "microcystic corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060447"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "epithelial basement membrane dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060448 obo:IAO_0000115 "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:20:34Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C563256"^^xsd:string, "OMIM:121850"^^xsd:string, "ORDO:98970"^^xsd:string, "SNOMEDCT_US_2021_03_01:417183007"^^xsd:string, "UMLS_CUI:C1562113"^^xsd:string ; oboInOwl:hasExactSynonym "FCD"@en, "Francois-Neetens speckled corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060448"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Fleck corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060442 . obo:DOID_0060449 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:26:37Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535480"^^xsd:string, "NCI:C142805"^^xsd:string, "OMIM:204870"^^xsd:string, "ORDO:98957"^^xsd:string, "SNOMEDCT_US_2021_03_01:419900000"^^xsd:string, "UMLS_CUI:C0339273"^^xsd:string ; oboInOwl:hasExactSynonym "GDCD"@en, "corneal amyloidosis"@en, "primary familial amyloidosis of the cornea"@en, "subepithelial amyloidosis of the cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060449"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "gelatinous drop-like corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060450 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:42:58Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567588"^^xsd:string, "OMIM:300778"^^xsd:string, "ORDO:98955"^^xsd:string ; oboInOwl:hasExactSynonym "LECD"@en, "band-shaped and whorled microcystic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060450"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Lisch epithelial corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060440, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060451 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:45:27Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9688"^^xsd:string, "ICD10CM:H18.52"^^xsd:string, "ICD9CM:371.51"^^xsd:string, "MESH:D053559"^^xsd:string, "NCI:C84795"^^xsd:string, "OMIM:PS122100"^^xsd:string, "ORDO:98954"^^xsd:string, "SNOMEDCT_US_2021_03_01:193833008"^^xsd:string, "UMLS_CUI:C0339277"^^xsd:string ; oboInOwl:hasExactSynonym "MECD"@en, "Stocker-Holt dystrophy"@en, "juvenile hereditary epithelial dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060451"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Meesmann corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060440 . obo:DOID_0060452 obo:IAO_0000115 "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:48:04Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567546"^^xsd:string, "OMIM:612868"^^xsd:string, "ORDO:98971"^^xsd:string ; oboInOwl:hasExactSynonym "PACD"@en, "chromosome 12q21.33 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060452"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "posterior amorphous corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_0060442, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060453 obo:IAO_0000115 "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:51:03Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535476"^^xsd:string, "OMIM:608470"^^xsd:string, "ORDO:98961"^^xsd:string, "SNOMEDCT_US_2021_03_01:231930000"^^xsd:string, "UMLS_CUI:C0339278"^^xsd:string ; oboInOwl:hasExactSynonym "RBCD"@en, "anterior limiting membrane dystrophy type I"@en, "corneal dystrophy of Bowman layer type I"@en, "geographic corneal dystrophy"@en, "granular corneal dystrophy type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060453"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Reis-Bucklers corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060441 . obo:DOID_0060454 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:55:14Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C567547"^^xsd:string, "OMIM:612867"^^xsd:string, "ORDO:98959"^^xsd:string ; oboInOwl:hasExactSynonym "SMCD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060454"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "subepithelial mucinous corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060440 . obo:DOID_0060455 obo:IAO_0000115 "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T17:57:16Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535942"^^xsd:string, "OMIM:602082"^^xsd:string, "ORDO:98960"^^xsd:string, "SNOMEDCT_US_2021_03_01:417065002"^^xsd:string, "UMLS_CUI:C1562894"^^xsd:string ; oboInOwl:hasExactSynonym "TBCD"@en, "Waardenburg-Jonker corneal dystrophy"@en, "anterior limiting membrane dystrophy type II"@en, "corneal dystrophy honeycomb-shaped"@en, "corneal dystrophy of Bowman layer type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060455"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Thiel-Behnke corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060441, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060456 obo:IAO_0000115 "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T18:01:14Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:9277"^^xsd:string, "MESH:C535475"^^xsd:string, "OMIM:121800"^^xsd:string, "ORDO:98967"^^xsd:string, "SNOMEDCT_US_2021_03_01:420212002"^^xsd:string, "UMLS_CUI:C0271287"^^xsd:string ; oboInOwl:hasExactSynonym "SCCD"@en, "Schnyder crystalline corneal dystrophy"@en, "corneal dystrophy crystalline of Schnyder"@en, "crystalline stromal dystrophy"@en, "hereditary crystalline stromal dystrophy of Schnyder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060456"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Schnyder corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060442, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060457 obo:IAO_0000115 "A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-16T18:05:26Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.5"^^xsd:string, "MESH:C562745"^^xsd:string, "OMIM:PS122000"^^xsd:string, "ORDO:98973"^^xsd:string ; oboInOwl:hasExactSynonym "PPCD"@en, "Schlichting dystrophy"@en, "hereditary polymorphus posterior corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060457"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_0060458 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:42:34Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:613681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060458"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2q31.1 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060459 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:45:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:10360"^^xsd:string, "ICD10CM:Q92.3"^^xsd:string, "MESH:C567626"^^xsd:string, "OMIM:611936"^^xsd:string, "ORDO:251038"^^xsd:string ; oboInOwl:hasExactSynonym "3q29 microduplication"@en, "trisomy 3q29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060459"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 3q29 microduplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060460 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T15:25:26Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q92.3"^^xsd:string, "OMIM:613174"^^xsd:string, "ORDO:329802"^^xsd:string ; oboInOwl:hasExactSynonym "5p13 microduplication syndrome"@en, "trisomy 5p13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060460"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome 5p13 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060461 obo:IAO_0000115 "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-10-19T15:29:51Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q99.8"^^xsd:string, "OMIM:300801"^^xsd:string, "ORDO:217377"^^xsd:string ; oboInOwl:hasExactSynonym "microduplication Xp11.22-p11.23 syndrome"@en, "trisomy Xp11.22-p11.23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060461"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "chromosome Xp11.23-p11.22 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060462 obo:IAO_0000115 "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-02T16:22:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:1818"^^xsd:string, "MESH:C535943"^^xsd:string, "NCI:C124056"^^xsd:string, "OMIM:251450"^^xsd:string, "OMIM:615777"^^xsd:string, "ORDO:1425"^^xsd:string, "SNOMEDCT_US_2021_03_01:254099008"^^xsd:string, "UMLS_CUI:C0432242"^^xsd:string ; oboInOwl:hasExactSynonym "Desbuquois syndrome"@en, "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060462"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Desbuquois dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060463 obo:IAO_0000115 "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T14:54:36Z"^^xsd:string ; oboInOwl:hasDbXref "NCI:C45716"^^xsd:string, "UMLS_CUI:C1707291"^^xsd:string ; oboInOwl:hasExactSynonym "nuclear protein in testis midline carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060463"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "NUT midline carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305 . obo:DOID_0060464 obo:IAO_0000115 "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T16:11:58Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8407"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "MESH:C537734"^^xsd:string, "OMIM:164280"^^xsd:string, "OMIM:614326"^^xsd:string, "ORDO:1305"^^xsd:string ; oboInOwl:hasExactSynonym "FGLDS"@en, "MODED syndrome"@en, "ODED syndrome"@en, "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum"@en, "microcephaly-digital anomalies-normal intelligence syndrome"@en, "microcephaly-oculo-digito-esophageal-duodenal syndrome"@en, "oculo-digito-esophageal-duodenal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060464"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Feingold syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060465 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T16:24:41Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2321"^^xsd:string, "MESH:C562524"^^xsd:string, "OMIM:PS228520"^^xsd:string, "ORDO:2021"^^xsd:string, "SNOMEDCT_US_2021_03_01:17144009"^^xsd:string, "UMLS_CUI:C0265282"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060465"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "fibrochondrogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060466 obo:IAO_0000115 "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-04T16:47:21Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C562884"^^xsd:string, "OMIM:135300"^^xsd:string, "OMIM:605544"^^xsd:string, "OMIM:609955"^^xsd:string, "OMIM:611010"^^xsd:string, "ORDO:2024"^^xsd:string, "SNOMEDCT_US_2021_03_01:109620006"^^xsd:string, "UMLS_CUI:C0399440"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary gingival fibromatosis"@en, "hereditary gingival hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060466"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "gingival fibromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3086 . obo:DOID_0060467 obo:IAO_0000115 "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity."^^xsd:string ; oboInOwl:creation_date "2015-11-11T21:29:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:2748"^^xsd:string, "MESH:C535284"^^xsd:string, "OMIM:143050"^^xsd:string, "OMIM:236400"^^xsd:string, "ORDO:3265"^^xsd:string, "SNOMEDCT_US_2019_09_01:205329008"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "humero-radial fusion"@en ; oboInOwl:id "DOID:0060467"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "humeroradial synostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11971 . obo:DOID_0060468 obo:IAO_0000115 "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:06:23Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6666"^^xsd:string, "ICD10CM:Q87.2"^^xsd:string, "MESH:C535326"^^xsd:string, "NCI:C125592"^^xsd:string, "OMIM:142900"^^xsd:string, "ORDO:392"^^xsd:string, "SNOMEDCT_US_2021_03_01:205814003"^^xsd:string, "UMLS_CUI:C0265264"^^xsd:string ; oboInOwl:hasExactSynonym "atrio-digital syndrome"@en, "atriodigital dysplasia"@en, "heart-hand syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060468"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Holt-Oram syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060469 obo:IAO_0000115 "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:22:00Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.88"^^xsd:string, "MESH:D054221"^^xsd:string, "NCI:C124852"^^xsd:string, "OMIM:247200"^^xsd:string, "ORDO:531"^^xsd:string, "SNOMEDCT_US_2021_03_01:253148005"^^xsd:string, "UMLS_CUI:C0265219"^^xsd:string ; oboInOwl:hasExactSynonym "MDS"@en, "Miller-Dieker syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060469"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Miller-Dieker lissencephaly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060470 obo:IAO_0000115 "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:40:23Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609056"^^xsd:string, "ORDO:370938"^^xsd:string ; oboInOwl:hasExactSynonym "salt & pepper syndrome"@en, "salt-and-pepper syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060470"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "salt and pepper syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060471 obo:IAO_0000115 "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:47:50Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C536525"^^xsd:string, "NCI:C98930"^^xsd:string, "OMIM:609442"^^xsd:string, "ORDO:1906"^^xsd:string, "SNOMEDCT_US_2021_03_01:205792006"^^xsd:string, "UMLS_CUI:C0236026"^^xsd:string ; oboInOwl:hasExactSynonym "fetal valproic acid syndrome"@en, "foetal valproate syndrome"@en, "foetal valproic acid syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060471"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "fetal valproate syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060472 obo:IAO_0000115 "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-17T16:54:49Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4391"^^xsd:string, "MESH:C536321"^^xsd:string, "OMIM:173650"^^xsd:string, "ORDO:306539"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary acrokeratotic poikiloderma of Kindler-Weary"@en, "poikiloderma of Kindler"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060472"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Kindler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0060473 obo:IAO_0000115 "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-18T16:21:35Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6810"^^xsd:string, "MESH:C537705"^^xsd:string, "NCI:C124837"^^xsd:string, "OMIM:147920"^^xsd:string, "OMIM:300867"^^xsd:string, "ORDO:2322"^^xsd:string, "SNOMEDCT_US_2021_03_01:205805008"^^xsd:string, "UMLS_CUI:C0796004"^^xsd:string ; oboInOwl:hasExactSynonym "KMS"@en, "Kabuki make up syndrome"@en, "Niikawa-Kuroki syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060473"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Kabuki syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060474 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-18T16:42:50Z"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.1"^^xsd:string, "OMIM:263400"^^xsd:string, "ORDO:238557"^^xsd:string ; oboInOwl:hasExactSynonym "Chuvash erythromatosis"@en, "Chuvash polycythemia"@en, "Chuvash type polycythemia"@en, "ECYT2"@en, "autosomal recessive benign erythrocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060474"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "familial erythrocytosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060475 obo:IAO_0000115 "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-19T16:30:12Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615369"^^xsd:string ; oboInOwl:hasExactSynonym "EEOC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060475"^^xsd:string ; a owl:Class ; rdfs:label "childhood onset epileptic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1827, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0060476 obo:IAO_0000115 "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome."^^xsd:string ; oboInOwl:created_by "elvira"^^xsd:string ; oboInOwl:creation_date "2015-11-20T16:04:30Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3936"^^xsd:string, "ICD10CM:Q87.3"^^xsd:string, "MESH:C536399"^^xsd:string, "OMIM:267000"^^xsd:string, "ORDO:2849"^^xsd:string ; oboInOwl:hasExactSynonym "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor"@en, "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor"@en, "renal hamartomas, nephroblastomatosis and fetal gigantism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060476"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Perlman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060478 obo:IAO_0000115 "A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A92.8"^^xsd:string, "MESH:D000071243"^^xsd:string ; oboInOwl:hasExactSynonym "Zika virus disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060478"^^xsd:string ; a owl:Class ; rdfs:label "Zika fever"@en ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7158 ] . obo:DOID_0060479 obo:IAO_0000115 "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080023"^^xsd:string ; oboInOwl:hasDbXref "GARD:4863"^^xsd:string, "ICD10CM:D61.0"^^xsd:string, "MESH:C537330"^^xsd:string, "OMIM:260400"^^xsd:string ; oboInOwl:hasExactSynonym "Shwachman syndrome"@en, "Shwachman-Bodian-Diamond syndrome"@en, "Shwachman-Diamond type metaphyseal dysplasia"^^xsd:string, "pancreatic insufficiency and bone marrow dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060479"^^xsd:string ; a owl:Class ; rdfs:label "Shwachman-Diamond syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060480 obo:IAO_0000115 "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium."^^xsd:string ; oboInOwl:hasDbXref "GARD:10985"^^xsd:string, "OMIM:604169"^^xsd:string, "ORDO:54260"^^xsd:string ; oboInOwl:hasExactSynonym "left ventricular hypertrabeculation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060480"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "left ventricular noncompaction"@en ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_0060481 obo:IAO_0000115 "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has _material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9849"^^xsd:string, "MESH:C537279"^^xsd:string, "OMIM:609460"^^xsd:string, "ORDO:66629"^^xsd:string, "SNOMEDCT_US_2021_03_01:717822006"^^xsd:string, "UMLS_CUI:C1836123"^^xsd:string ; oboInOwl:hasExactSynonym "Goldberg-Shprintzen megacolon syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060481"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Goldberg-Shprintzen syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060482 obo:IAO_0000115 "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "MESH:C567416"^^xsd:string, "OMIM:612109"^^xsd:string, "ORDO:157962"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060482"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "oculoauricular syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060483 obo:IAO_0000115 "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609313"^^xsd:string, "ORDO:171851"^^xsd:string ; oboInOwl:hasExactSynonym "erythrokeratodermia variabilis 3"@en, "erythrokeratodermia variabilis, Kamouraska type"@en, "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060483"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "MEDNIK syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060484 obo:IAO_0000115 "A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C557674"^^xsd:string, "OMIM:612780"^^xsd:string, "ORDO:199343"^^xsd:string, "SNOMEDCT_US_2021_03_01:721207002"^^xsd:string, "UMLS_CUI:C2748572"^^xsd:string ; oboInOwl:hasExactSynonym "SeSAME syndrome"@en, "epilepsy, ataxia, sensorineural deafness and tubulopathy"@en, "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060484"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "EAST syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060485 obo:IAO_0000115 "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9673"^^xsd:string, "MESH:C536990"^^xsd:string, "NCI:C74999"^^xsd:string, "OMIM:235730"^^xsd:string, "ORDO:2152"^^xsd:string, "SNOMEDCT_US_2021_03_01:703535000"^^xsd:string, "UMLS_CUI:C1856113"^^xsd:string ; oboInOwl:hasExactSynonym "Hirschsprung disease mental retardation syndrome"@en, "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060485"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Mowat-Wilson syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060486 obo:IAO_0000115 "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10453"^^xsd:string, "MESH:C566822"^^xsd:string, "OMIM:168605"^^xsd:string, "ORDO:178509"^^xsd:string ; oboInOwl:hasExactSynonym "parkinsonism with alveolar hypoventilation and mental depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060486"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Perry syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060488 obo:IAO_0000115 "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4372"^^xsd:string, "MESH:C537403"^^xsd:string, "NCI:C129872"^^xsd:string, "OMIM:610954"^^xsd:string, "ORDO:2896"^^xsd:string, "SNOMEDCT_US_2021_03_01:702344008"^^xsd:string, "UMLS_CUI:C1970431"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060488"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pitt-Hopkins syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060490 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:4984"^^xsd:string, "MESH:C536629"^^xsd:string, "NCI:C135087"^^xsd:string, "OMIM:242900"^^xsd:string, "ORDO:1830"^^xsd:string, "SNOMEDCT_US_2021_03_01:723995003"^^xsd:string, "UMLS_CUI:C0877024"^^xsd:string ; oboInOwl:hasExactSynonym "Schimke immunoosseous dysplasia"@en, "Schimke syndrome"@en, "immunoosseous dysplasia Schimke type"@en, "spondyloepiphyseal dysplasia - nephrotic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060490"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Schimke immuno-osseous dysplasia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060491 obo:IAO_0000115 "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "MESH:C563702"^^xsd:string, "OMIM:609541"^^xsd:string, "ORDO:320406"^^xsd:string ; oboInOwl:hasExactSynonym "spastic paraplegia, optic atropy, and neuropathy"@en, "spastic paraplegia, optic atropy, and neuropathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060491"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "SPOAN syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060492 obo:IAO_0000115 "An egg allergy triggered by Gallus gallus eggs."^^xsd:string ; oboInOwl:hasExactSynonym "Gallus gallus egg allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060492"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "chicken egg allergy"@en ; rdfs:subClassOf obo:DOID_4377, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001275 ] . obo:DOID_0060495 obo:IAO_0000115 "A food allergy triggered by Crustacea or Mollusca."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060495"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "shellfish allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001293 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6447 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6657 ] . obo:DOID_0060496 obo:IAO_0000115 "An allergic disease that is located_in the respiratory tract."^^xsd:string ; oboInOwl:hasExactSynonym "airway allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060496"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "respiratory allergy"@en ; rdfs:subClassOf obo:DOID_1205 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1205 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000065 ] ) ] . obo:DOID_0060497 obo:IAO_0000115 "A respiratory allergy triggered by pollen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060497"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "pollen allergy"@en ; rdfs:subClassOf obo:DOID_0060496 . obo:DOID_0060498 obo:IAO_0000115 "A pollen allergy triggered by Phleum pratense pollen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060498"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Timothy grass allergy"@en ; rdfs:subClassOf obo:DOID_0060497 . obo:DOID_0060499 obo:IAO_0000115 "An autoimmune disease of central nervous system caused by an autoimmune response."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060499"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune neuropathy"@en ; rdfs:subClassOf obo:DOID_0060004 . obo:DOID_0060500 obo:IAO_0000115 "An allergic disease that is triggered by a drug."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060500"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "drug allergy"@en ; rdfs:subClassOf obo:DOID_1205 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1205 [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CHEBI_24431 [ a owl:Restriction ; owl:onProperty obo:RO_0000087 ; owl:someValuesFrom obo:CHEBI_23888 ] ) ] ] ) ] . obo:DOID_0060501 obo:IAO_0000115 "An allergic disease that is triggered by a metal."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060501"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "metal allergy"@en ; rdfs:subClassOf obo:DOID_1205 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:CHEBI_25213 obo:CHEBI_33521 obo:CHEBI_35479 ) ] ] ) ] . obo:DOID_0060502 obo:IAO_0000115 "An allergic disease that is located_in the gastrointestinal tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060502"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "gastrointestinal allergy"@en ; rdfs:subClassOf obo:DOID_1205 . obo:DOID_0060503 obo:IAO_0000115 "A food allergy triggered by a plant fruit product."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060503"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "fruit allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001057 ] . obo:DOID_0060504 obo:IAO_0000115 "A fruit allergy triggered by Malus domestica plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Malus domestica fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060504"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "apple allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001611 ] . obo:DOID_0060505 obo:IAO_0000115 "A fruit allergy triggered by Prunus armeniaca plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus armeniaca fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060505"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "apricot allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001615 ] . obo:DOID_0060506 obo:IAO_0000115 "A fruit allergy triggered by Prunus avium plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus avium fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060506"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cherry allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001717 ] . obo:DOID_0060507 obo:IAO_0000115 "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Ziziphus mauritiana fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060507"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Indian plum allergy"@en ; rdfs:subClassOf obo:DOID_0060503 . obo:DOID_0060508 obo:IAO_0000115 "A fruit allergy triggered by Citrus sinensis plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Citrus sinensis fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060508"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "orange allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002071 ] . obo:DOID_0060509 obo:IAO_0000115 "A fruit allergy triggered by Cucumis melo plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Cucumis melo fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060509"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "melon allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002029 ] . obo:DOID_0060510 obo:IAO_0000115 "A fruit allergy triggered by Prunus persica plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus persica fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060510"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "peach allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002095 ] . obo:DOID_0060511 obo:IAO_0000115 "A fruit allergy triggered by Prunus domestica plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Prunus domestica fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060511"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "plum allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002161 ] . obo:DOID_0060512 obo:IAO_0000115 "A fruit allergy triggered by Solanum lycopersicum plant fruit food product."^^xsd:string ; oboInOwl:hasExactSynonym "Solanum lycopersicum fruit allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060512"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tomato allergy"@en ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001164 ] . obo:DOID_0060513 obo:IAO_0000115 "A food allergy triggered by fish."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060513"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "fish allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001248 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_7898 ] . obo:DOID_0060514 obo:IAO_0000115 "A fish allergy triggered by Gadus morhua."^^xsd:string ; oboInOwl:hasExactSynonym "Gadus morhua fish allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060514"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Atlantic cod allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_8049 ] . obo:DOID_0060515 obo:IAO_0000115 "A fish allergy triggered by Salmo salar."^^xsd:string ; oboInOwl:hasExactSynonym "Salmo salar fish allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060515"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Atlantic salmon allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001623 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_8030 ] . obo:DOID_0060516 obo:IAO_0000115 "A fish allergy triggered by Cyprinus carpio."^^xsd:string ; oboInOwl:hasExactSynonym "Cyprinus carpio fish allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060516"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "carp allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001684 ] . obo:DOID_0060517 obo:IAO_0000115 "A fish allergy triggered by Danio rerio."^^xsd:string ; oboInOwl:hasExactSynonym "Danio rerio allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060517"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "zebrafish allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_7955 ] . obo:DOID_0060518 obo:IAO_0000115 "A fish allergy triggered by Oncorhynchus mykiss."^^xsd:string ; oboInOwl:hasExactSynonym "Oncorhynchus mykiss allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060518"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "rainbow trout allergy"@en ; rdfs:subClassOf obo:DOID_0060513, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002185 ], [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_8022 ] . obo:DOID_0060519 obo:IAO_0000115 "A drug allergy triggered by a beta-lactam."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060519"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "beta-lactam allergy"@en ; rdfs:subClassOf obo:DOID_0060500, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_35627 ] . obo:DOID_0060520 obo:IAO_0000115 "A beta-lactam allergy triggered by penicillin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060520"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "penicillin allergy"@en ; rdfs:subClassOf obo:DOID_0060519, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:CHEBI_17334 ] . obo:DOID_0060521 obo:IAO_0000115 "A milk allergy triggered by Bos taurus milk."^^xsd:string ; oboInOwl:hasExactSynonym "Bos taurus milk allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060521"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "cow milk allergy"@en ; rdfs:subClassOf obo:DOID_4376 . obo:DOID_0060522 obo:IAO_0000115 "A milk allergy triggered by Capra hircus milk."^^xsd:string ; oboInOwl:hasExactSynonym "Capra hircus milk allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060522"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "goat milk allergy"@en ; rdfs:subClassOf obo:DOID_4376 . obo:DOID_0060523 obo:IAO_0000115 "A shellfish allergy triggered by Mollusca."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060523"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "mollusc allergy"@en ; rdfs:subClassOf obo:DOID_0060495, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002044 ] . obo:DOID_0060524 obo:IAO_0000115 "A shellfish allergy triggered by Crustacea."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060524"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "crustacean allergy"@en ; rdfs:subClassOf obo:DOID_0060495, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001792 ] . obo:DOID_0060525 obo:IAO_0000115 "A crustacean allergy triggered by Farfantepenaeus aztecus."^^xsd:string ; oboInOwl:hasExactSynonym "Farfantepenaeus aztecus allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060525"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "brown shrimp allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6690 ] . obo:DOID_0060526 obo:IAO_0000115 "A crustacean allergy triggered by Scylla paramamosain."^^xsd:string ; oboInOwl:hasExactSynonym "Scylla paramamosain allergy"@en, "green mud crab allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060526"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "crab allergy"@en ; rdfs:subClassOf obo:DOID_0060524, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_85552 ] . obo:DOID_0060527 obo:IAO_0000115 "A crustacean allergy triggered by Fenneropenaeus indicus."^^xsd:string ; oboInOwl:hasExactSynonym "Fenneropenaeus indicus allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060527"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "Indian prawn allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_29960 ] . obo:DOID_0060528 obo:IAO_0000115 "A crustacean allergy triggered by Penaeus monodon."^^xsd:string ; oboInOwl:hasExactSynonym "Penaeus monodon allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060528"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "tiger prawn allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6687 ] . obo:DOID_0060529 obo:IAO_0000115 "A crustacean allergy triggered by Litopenaeus vannamei."^^xsd:string ; oboInOwl:hasExactSynonym "Litopenaeus vannamei allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060529"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "white shrimp allergy"@en ; rdfs:subClassOf obo:DOID_0040001, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_6689 ] . obo:DOID_0060530 obo:IAO_0000115 "A mollusc allergy triggered by snails."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060530"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "snail allergy"@en ; rdfs:subClassOf obo:DOID_0060523, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00002244 ] . obo:DOID_0060531 obo:IAO_0000115 "A snail allergy triggered by the horned turban snail."^^xsd:string ; oboInOwl:hasExactSynonym "Turbo cornutus allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060531"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "horned turban snail allergy"@en ; rdfs:subClassOf obo:DOID_0060530, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_63673 ] . obo:DOID_0060532 obo:IAO_0000115 "An allergic disease that is triggered by latex."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060532"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "latex allergy"@en ; rdfs:subClassOf obo:DOID_1205, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:NCBITaxon_3981 ] . obo:DOID_0060534 obo:IAO_0000115 "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C66950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060534"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatoid adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_299 . obo:DOID_0060535 obo:IAO_0000115 "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:13708"^^xsd:string, "OMIM:613398"^^xsd:string, "ORDO:280558"^^xsd:string ; oboInOwl:hasExactSynonym "WABS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060535"^^xsd:string ; a owl:Class ; rdfs:label "Warsaw breakage syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060536 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded."^^xsd:string ; oboInOwl:hasDbXref "GARD:3908"^^xsd:string, "MESH:C537475"^^xsd:string, "OMIM:252010"^^xsd:string, "ORDO:2609"^^xsd:string, "UMLS_CUI:C1838979"^^xsd:string ; oboInOwl:hasExactSynonym "isolated NADH-CoQ reductase deficiency"@en, "isolated NADH-coenzyme Q reductase deficiency"@en, "isolated NADH-ubiquinone reductase deficiency"@en, "isolated mitochondrial respiratory chain complex I deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060536"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex I deficiency"@en ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0060537 obo:IAO_0000115 "A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:5053"^^xsd:string, "ICD10CM:G71.3"^^xsd:string, "MESH:C565375"^^xsd:string, "OMIM:252011"^^xsd:string, "ORDO:3208"^^xsd:string ; oboInOwl:hasExactSynonym "isolated mitochondrial respiratory chain complex II deficiency"@en, "isolated succinate-CoQ reductase deficiency"@en, "isolated succinate-coenzyme Q reductase deficiency"@en, "isolated succinate-ubiquinone reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060537"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex II deficiency"@en ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060538 obo:IAO_0000115 "A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D65"^^xsd:string, "MESH:D055665"^^xsd:string ; oboInOwl:hasExactSynonym "purpura gangrenosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060538"^^xsd:string ; a owl:Class ; rdfs:label "purpura fulminans"@en ; rdfs:subClassOf obo:DOID_3326, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0060539 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060539"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 1"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060540 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608233"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060540"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 2"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060541 obo:IAO_0000115 "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614072"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060541"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 3"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060542 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614073"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060542"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 4"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060543 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614074"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060543"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 5"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060544 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614075"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060544"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 6"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060545 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614076"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060545"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 7"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060546 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614077"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060546"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 8"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060547 obo:IAO_0000115 "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614171"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060547"^^xsd:string ; a owl:Class ; rdfs:label "Hermansky-Pudlak syndrome 9"@en ; rdfs:subClassOf obo:DOID_3753 . obo:DOID_0060548 obo:IAO_0000115 "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3."^^xsd:string ; oboInOwl:hasBroadSynonym "breast tumor luminal"@en, "luminal breast cancer"@en ; oboInOwl:hasDbXref "NCI:C53554"^^xsd:string, "UMLS_CUI:C3642345"^^xsd:string ; oboInOwl:hasExactSynonym "Luminal A Breast Carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060548"^^xsd:string ; a owl:Class ; rdfs:label "luminal breast carcinoma A"@en ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_0060549 obo:IAO_0000115 "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "GARD:819"^^xsd:string, "MESH:C537908"^^xsd:string, "OMIM:209885"^^xsd:string, "ORDO:1231"^^xsd:string, "SNOMEDCT_US_2021_03_01:408537003"^^xsd:string, "UMLS_CUI:C1319466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060549"^^xsd:string ; a owl:Class ; rdfs:label "Barber-Say syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060550 obo:IAO_0000115 "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "GARD:3"^^xsd:string, "MESH:C535557"^^xsd:string, "OMIM:200110"^^xsd:string, "ORDO:920"^^xsd:string, "SNOMEDCT_US_2021_03_01:718575002"^^xsd:string, "UMLS_CUI:C1860224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060550"^^xsd:string ; a owl:Class ; rdfs:label "ablepharon macrostomia syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060551 obo:IAO_0000115 "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4085"^^xsd:string, "ICD10CM:D82.8"^^xsd:string, "MESH:C565820"^^xsd:string, "OMIM:604173"^^xsd:string, "ORDO:221046"^^xsd:string ; oboInOwl:hasExactSynonym "poikiloderma with neutropenia, Clericuzio type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060551"^^xsd:string ; a owl:Class ; rdfs:label "poikiloderma with neutropenia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060556 obo:IAO_0000115 "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537177"^^xsd:string, "OMIM:606693"^^xsd:string, "ORDO:306674"^^xsd:string, "SNOMEDCT_US_2021_03_01:723992000"^^xsd:string, "UMLS_CUI:C1847640"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive Parkinson disease 9"@en, "autosomal recessive juvenile onset Parkinson disease 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060556"^^xsd:string ; a owl:Class ; rdfs:label "Kufor-Rakeb syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060557 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615217"^^xsd:string ; oboInOwl:hasExactSynonym "ataxia-oculomotor apraxia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060557"^^xsd:string ; a owl:Class ; rdfs:label "ataxia with oculomotor apraxia type 3"@en ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0060558 obo:IAO_0000115 "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth."^^xsd:string ; oboInOwl:hasDbXref "GARD:12643"^^xsd:string, "ICD10CM:Q68.8"^^xsd:string, "OMIM:PS253310"^^xsd:string, "ORDO:294965"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060558"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0060559 obo:IAO_0000115 "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:3227"^^xsd:string, "MESH:C537194"^^xsd:string, "OMIM:253310"^^xsd:string, "ORDO:1486"^^xsd:string, "SNOMEDCT_US_2021_03_01:715418007"^^xsd:string, "UMLS_CUI:C1854664"^^xsd:string ; oboInOwl:hasExactSynonym "LCCS1"@en, "multiple contracture syndrome, Finnish type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060559"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 1"@en ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060560 obo:IAO_0000115 "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9177"^^xsd:string, "MESH:C564369"^^xsd:string, "OMIM:607598"^^xsd:string, "ORDO:137776"^^xsd:string ; oboInOwl:hasExactSynonym "LCCS2"@en, "multiple contracture syndrome, Israeli-Bedouin type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060560"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 2"@en ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060561 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060561"^^xsd:string ; a owl:Class ; rdfs:label "obsolete DMD-related dilated cardiomyopathy"^^xsd:string ; owl:deprecated true . obo:DOID_0060562 obo:IAO_0000115 "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus."^^xsd:string ; oboInOwl:hasDbXref "MESH:D063748"^^xsd:string ; oboInOwl:hasExactSynonym "ALCAPA"@en, "Bland-White-Garland syndrome"@en, "White-Garland syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060562"^^xsd:string ; a owl:Class ; rdfs:label "anomalous left coronary artery from the pulmonary artery"@en ; rdfs:subClassOf obo:DOID_11843 . obo:DOID_0060563 obo:IAO_0000115 "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits."^^xsd:string ; oboInOwl:hasDbXref "GARD:1237"^^xsd:string, "MESH:C566815"^^xsd:string, "OMIM:169100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060563"^^xsd:string ; a owl:Class ; rdfs:label "Char syndrome"@en ; rdfs:subClassOf obo:DOID_13832 . obo:DOID_0060564 obo:IAO_0000115 "A bone disease that is located_in the spine."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060564"^^xsd:string ; a owl:Class ; rdfs:label "spinal disease"@en ; rdfs:subClassOf obo:DOID_0080001 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] ) ] . obo:DOID_0060565 obo:IAO_0000115 "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535313"^^xsd:string, "OMIM:PS220210"^^xsd:string, "ORDO:7"^^xsd:string, "SNOMEDCT_US_2021_03_01:718556007"^^xsd:string, "UMLS_CUI:C0796137"^^xsd:string ; oboInOwl:hasExactSynonym "CCC dysplasia"@en, "craniocerebellocardiac dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060565"^^xsd:string ; a owl:Class ; rdfs:label "Ritscher-Schinzel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060566 obo:IAO_0000115 "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535327"^^xsd:string, "OMIM:236110"^^xsd:string, "ORDO:2167"^^xsd:string, "SNOMEDCT_US_2021_03_01:783159001"^^xsd:string, "UMLS_CUI:C1856095"^^xsd:string ; oboInOwl:hasExactSynonym "Holzgreve Wagner Rehder Syndrome"@en, "Holzgreve syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060566"^^xsd:string ; a owl:Class ; rdfs:label "Holzgreve-Wagner-Rehder Syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060567 obo:IAO_0000115 "A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks."^^xsd:string ; oboInOwl:hasDbXref "GARD:8653"^^xsd:string, "ICD10CM:L95.1"^^xsd:string, "MESH:C535509"^^xsd:string, "ORDO:90000"^^xsd:string, "SNOMEDCT_US_2021_03_01:201300002"^^xsd:string, "UMLS_CUI:C0263398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060567"^^xsd:string ; a owl:Class ; rdfs:label "erythema elevatum diutinum"@en ; rdfs:subClassOf obo:DOID_865 . obo:DOID_0060569 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly."^^xsd:string ; oboInOwl:hasDbXref "GARD:8585"^^xsd:string, "MESH:C535572"^^xsd:string, "OMIM:239850"^^xsd:string ; oboInOwl:hasExactSynonym "Cantu syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060569"^^xsd:string ; a owl:Class ; rdfs:label "hypertrichotic osteochondrodysplasia Cantu type"@en ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060570 obo:IAO_0000115 "A tuberculosis located in the heart."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014381"^^xsd:string ; oboInOwl:hasNarrowSynonym "cardiovascular tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060570"^^xsd:string ; a owl:Class ; rdfs:label "cardiac tuberculosis"@en ; rdfs:subClassOf obo:DOID_114, obo:DOID_399 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_399 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] ) ] . obo:DOID_0060571 obo:IAO_0000115 "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:220210"^^xsd:string, "ORDO:7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060571"^^xsd:string ; a owl:Class ; rdfs:label "Ritscher-Schinzel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060565, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060572 obo:IAO_0000115 "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300963"^^xsd:string, "ORDO:7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060572"^^xsd:string ; a owl:Class ; rdfs:label "Ritscher-Schinzel syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060565, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060573 obo:IAO_0000115 "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056725"^^xsd:string, "NCI:C131685"^^xsd:string, "OMIM:193400"^^xsd:string, "SNOMEDCT_US_2021_03_01:128106003"^^xsd:string, "UMLS_CUI:C1264039"^^xsd:string ; oboInOwl:hasExactSynonym "VWD type 1"@en, "VWD1"@en, "von Willebrand disease type 1"@en, "von Willebrand disease type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "von Willebrand's disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12531 . obo:DOID_0060574 obo:IAO_0000115 "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056728"^^xsd:string, "OMIM:613554"^^xsd:string, "ORDO:166081"^^xsd:string, "SNOMEDCT_US_2021_03_01:128107007"^^xsd:string, "UMLS_CUI:C1264040"^^xsd:string ; oboInOwl:hasExactSynonym "VWD type 2"@en, "VWD2"@en, "von Willebrand disease type 2"@en, "von Willebrand disease type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060574"^^xsd:string ; a owl:Class ; rdfs:label "von Willebrand's disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12531 . obo:DOID_0060575 obo:IAO_0000115 "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:257920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060575"^^xsd:string ; a owl:Class ; rdfs:label "3MC syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060225 . obo:DOID_0060576 obo:IAO_0000115 "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:265050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060576"^^xsd:string ; a owl:Class ; rdfs:label "3MC syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060225 ; owl:disjointWith obo:DOID_0060577 . obo:DOID_0060577 obo:IAO_0000115 "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:248340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060577"^^xsd:string ; a owl:Class ; rdfs:label "3MC syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060225 . obo:DOID_0060578 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070101"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:163950"^^xsd:string ; oboInOwl:hasExactSynonym "NS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060578"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060580 obo:IAO_0000115 "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070102"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:605275"^^xsd:string ; oboInOwl:hasExactSynonym "NS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060580"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060581 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070103"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:609942"^^xsd:string ; oboInOwl:hasExactSynonym "NS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060581"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060582 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070104"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:610733"^^xsd:string ; oboInOwl:hasExactSynonym "NS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060582"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060583 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070105"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:611553"^^xsd:string ; oboInOwl:hasExactSynonym "NS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060583"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060584 obo:IAO_0000115 "A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070106"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:613224"^^xsd:string ; oboInOwl:hasExactSynonym "NS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060584"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060585 obo:IAO_0000115 "A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070107"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:613706"^^xsd:string ; oboInOwl:hasExactSynonym "NS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060585"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060586 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070108"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:615355"^^xsd:string ; oboInOwl:hasExactSynonym "NS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060586"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060587 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070109"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:616559"^^xsd:string ; oboInOwl:hasExactSynonym "NS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060587"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060588 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070110"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:616564"^^xsd:string ; oboInOwl:hasExactSynonym "NS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060588"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060589 obo:IAO_0000115 "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:331"^^xsd:string, "MESH:C536719"^^xsd:string, "OMIM:216340"^^xsd:string, "UMLS_CUI:C1857663"^^xsd:string ; oboInOwl:hasExactSynonym "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia"@en, "cleidocranial dysplasia-micrognathia-absent thumbs syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060589"^^xsd:string ; a owl:Class ; rdfs:label "Yunis-Varon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060590 obo:IAO_0000115 "A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_ material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10628"^^xsd:string, "MESH:C567043"^^xsd:string, "OMIM:610965"^^xsd:string ; oboInOwl:hasExactSynonym "XFEPS"@en, "XPF-ERCC1 progeroid syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060590"^^xsd:string ; a owl:Class ; rdfs:label "XFE progeroid syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060591 obo:IAO_0000115 "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9297"^^xsd:string, "MESH:C536697"^^xsd:string, "OMIM:193670"^^xsd:string, "SNOMEDCT_US_2021_03_01:234571003"^^xsd:string, "UMLS_CUI:C0472817"^^xsd:string ; oboInOwl:hasExactSynonym "WHIMS"@en, "warts, hypogammaglobulinemia, infections, and myelokathexis"@en, "warts-hypogammaglobulinemia-infections-myelokathexis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060591"^^xsd:string ; a owl:Class ; rdfs:label "WHIM syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060592 obo:IAO_0000115 "An adult acute ymphoblastic leukemia occurring in adults and that has_mateiral_basis_in B lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9143"^^xsd:string ; oboInOwl:hasExactSynonym "B-cell adult acute lymphocytic leukaemia"@en, "adult B acute lymphoblastic leukaemia"@en, "adult B acute lymphoblastic leukemia"@en, "adult B-lymphoblastic leukaemia"@en, "adult B-lymphoblastic leukemia"@en, "adult b-cell acute lymphoblastic leukaemia"@en, "adult b-cell acute lymphoblastic leukemia"@en, "adult b-cell lymphocytic leukaemia"@en, "adult b-cell lymphocytic leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060592"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "B-cell adult acute lymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5604, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0060597 obo:IAO_0000115 "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C92.2"^^xsd:string, "ICD9CM:205.2"^^xsd:string, "MESH:D054438"^^xsd:string, "NCI:C3519"^^xsd:string, "ORDO:98824"^^xsd:string, "SNOMEDCT_US_2021_03_01:128826001"^^xsd:string, "UMLS_CUI:C1292772"^^xsd:string ; oboInOwl:hasExactSynonym "aCML"@en, "atypical CML"@en, "atypical chronic myeloid leukaemia"@en, "atypical chronic myeloid leukaemia BCR-ABL1 negative"@en, "atypical chronic myeloid leukemia BCR-ABL1 negative"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060597"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "atypical chronic myeloid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4972 . obo:DOID_0060599 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies."^^xsd:string ; oboInOwl:hasDbXref "GARD:7161"^^xsd:string, "MESH:C538336"^^xsd:string, "OMIM:302350"^^xsd:string, "ORDO:627"^^xsd:string, "SNOMEDCT_US_2021_03_01:445257004"^^xsd:string, "UMLS_CUI:C0796085"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060599"^^xsd:string ; a owl:Class ; rdfs:label "Nance-Horan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060600 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060600"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum"^^xsd:string ; owl:deprecated true . obo:DOID_0060601 obo:IAO_0000115 "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D68.8"^^xsd:string, "OMIM:262850"^^xsd:string, "ORDO:79"^^xsd:string ; oboInOwl:hasExactSynonym "antiplasmin defiency"@en, "plasmin inhibitor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060601"^^xsd:string ; a owl:Class ; rdfs:label "alpha-2-plasmin inhibitor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2213, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0060602 obo:IAO_0000115 "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614307"^^xsd:string ; oboInOwl:hasExactSynonym "AMACR deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060602"^^xsd:string ; a owl:Class ; rdfs:label "alpha-methylacyl-CoA racemase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_906 . obo:DOID_0060603 obo:IAO_0000115 "An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:106190"^^xsd:string ; oboInOwl:hasExactSynonym "Dann-Epstein-Sohar syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060603"^^xsd:string ; a owl:Class ; rdfs:label "isolated anhidrosis with normal sweat glands"^^xsd:string ; rdfs:subClassOf obo:DOID_11156 . obo:DOID_0060604 obo:IAO_0000115 "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q38.1"^^xsd:string, "OMIM:106280"^^xsd:string ; oboInOwl:hasExactSynonym "tongue-tie"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060604"^^xsd:string ; a owl:Class ; rdfs:label "ankyloglossia"^^xsd:string ; rdfs:subClassOf obo:DOID_10944 ; skos:exactMatch "MESH:D000072676"^^xsd:string . obo:DOID_0060605 obo:IAO_0000115 "An eye disease that is characterized by impaired development of the anterior segment of the eye."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060605"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anterior segment mesenchymal dysgenesis"^^xsd:string ; owl:deprecated true . obo:DOID_0060606 obo:IAO_0000115 "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060606"^^xsd:string ; a owl:Class ; rdfs:label "fetal nicotine spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_0060608 obo:IAO_0000115 "A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5120"^^xsd:string, "ICD10CM:Q87.1"^^xsd:string, "OMIM:210710"^^xsd:string, "ORDO:2636"^^xsd:string ; oboInOwl:hasExactSynonym "Taybi-Linder syndrome"@en, "brachymelic primordial dwarfism"@en, "cephaloskeletal dysplasia"@en, "low-birth-weight dwarfism with skeletal dysplasia"@en, "osteodysplastic primordial dwarfism type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060608"^^xsd:string ; a owl:Class ; rdfs:label "microcephalic osteodysplastic primordial dwarfism type I"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060609 obo:IAO_0000115 "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.1"^^xsd:string, "OMIM:210720"^^xsd:string, "ORDO:2637"^^xsd:string ; oboInOwl:hasExactSynonym "Majewski osteodysplastic primordial dwarfism type II"@en, "osteodysplastic primordial dwarfism type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060609"^^xsd:string ; a owl:Class ; rdfs:label "microcephalic osteodysplastic primordial dwarfism type II"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060610 obo:IAO_0000115 "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536138"^^xsd:string, "NCI:C98982"^^xsd:string, "OMIM:155310"^^xsd:string, "ORDO:2241"^^xsd:string, "SNOMEDCT_US_2021_03_01:253781004"^^xsd:string, "UMLS_CUI:C1608393"^^xsd:string ; oboInOwl:hasExactSynonym "Berdon syndrome"@en, "Megacystis microcolon intestinal hypoperistalsis syndrome"@en, "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH"@en, "visceral myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060610"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "megacystis-microcolon-intestinal hypoperistalsis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060611 obo:IAO_0000115 "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:9226"^^xsd:string, "OMIM:PS605552"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060611"^^xsd:string ; a owl:Class ; rdfs:label "abdominal obesity-metabolic syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060612 obo:IAO_0000115 "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615812"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060612"^^xsd:string ; a owl:Class ; rdfs:label "abdominal obesity-metabolic syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060611 . obo:DOID_0060613 obo:IAO_0000115 "A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:303400"^^xsd:string, "ORDO:324601"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked cleft palate and ankyloglossia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060613"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cleft palate with or without ankyloglossia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_674, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0060614 obo:IAO_0000115 "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:118"^^xsd:string, "MESH:C536937"^^xsd:string, "OMIM:181450"^^xsd:string, "ORDO:3138"^^xsd:string, "SNOMEDCT_US_2021_03_01:700211007"^^xsd:string, "UMLS_CUI:C1866994"^^xsd:string ; oboInOwl:hasExactSynonym "Pallister ulnar-mammary syndrome"@en, "Schinzel syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060614"^^xsd:string ; a owl:Class ; rdfs:label "ulnar-mammary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060638 obo:IAO_0000115 "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610199"^^xsd:string, "ORDO:79118"^^xsd:string ; oboInOwl:hasExactSynonym "NDH syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060638"^^xsd:string ; a owl:Class ; rdfs:label "neonatal diabetes mellitus with congenital hypothyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_11717, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060639 obo:IAO_0000115 "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10457"^^xsd:string, "OMIM:606176"^^xsd:string ; oboInOwl:hasExactSynonym "PDMI"@en, "PNDM"@en, "permanent diabetes mellitus of infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060639"^^xsd:string ; a owl:Class ; rdfs:label "permanent neonatal diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_11717, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060640 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2198"^^xsd:string, "MESH:C535737"^^xsd:string, "OMIM:602473"^^xsd:string, "ORDO:51188"^^xsd:string, "SNOMEDCT_US_2021_03_01:723307008"^^xsd:string, "UMLS_CUI:C1865349"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060640"^^xsd:string ; a owl:Class ; rdfs:label "ethylmalonic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060641 obo:IAO_0000115 "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:612651"^^xsd:string, "ORDO:199332"^^xsd:string ; oboInOwl:hasExactSynonym "ECO syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060641"^^xsd:string ; a owl:Class ; rdfs:label "endocrine-cerebro-osteodysplasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060642 obo:IAO_0000115 "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.2"^^xsd:string, "OMIM:226600"^^xsd:string, "ORDO:79408"^^xsd:string ; oboInOwl:hasExactSynonym "RDEB, Hallopeau-Siemens type"@en, "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis"@en, "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type"@en ; oboInOwl:hasNarrowSynonym "severe generalized RDEB"@en, "severe generalized recessive dystrophic epidermolysis bullosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060642"^^xsd:string ; a owl:Class ; rdfs:label "recessive dystrophic epidermolysis bullosa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4959, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060643 obo:IAO_0000115 "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension."^^xsd:string ; oboInOwl:hasDbXref "GARD:1280"^^xsd:string, "ICD10CM:K83.01"^^xsd:string, "MESH:D015209"^^xsd:string, "NCI:C4828"^^xsd:string, "OMIM:613806"^^xsd:string, "ORDO:171"^^xsd:string, "SNOMEDCT_US_2021_03_01:4032000"^^xsd:string, "UMLS_CUI:C0566602"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060643"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "primary sclerosing cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_14268 . obo:DOID_0060644 obo:IAO_0000115 "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536123"^^xsd:string, "OMIM:600092"^^xsd:string, "ORDO:1422"^^xsd:string, "SNOMEDCT_US_2021_03_01:720851007"^^xsd:string, "UMLS_CUI:C1838654"^^xsd:string ; oboInOwl:hasExactSynonym "Nivelon-Nivelon-Mabille syndrome"@en, "chondrodysplasia-disorder of sex development syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060644"^^xsd:string ; a owl:Class ; rdfs:label "chondrodysplasia-pseudohermaphroditism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0060645 obo:IAO_0000115 "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M86.3"^^xsd:string, "MESH:C535456"^^xsd:string, "OMIM:259680"^^xsd:string, "ORDO:324964"^^xsd:string ; oboInOwl:hasExactSynonym "CRMO"@en, "chronic multifocal osteomyelitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060645"^^xsd:string ; a owl:Class ; rdfs:label "chronic recurrent multifocal osteomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_1019, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0060646 obo:IAO_0000115 "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603523"^^xsd:string, "ORDO:264688"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060646"^^xsd:string ; a owl:Class ; rdfs:label "congenital chylothorax"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1532, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060647 obo:IAO_0000115 "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613630"^^xsd:string, "ORDO:465824"^^xsd:string ; oboInOwl:hasExactSynonym "cocoon syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060647"^^xsd:string ; a owl:Class ; rdfs:label "fetal encasement syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060648 obo:IAO_0000115 "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060605"^^xsd:string ; oboInOwl:hasDbXref "GARD:10025"^^xsd:string, "ICD10CM:Q13.8"^^xsd:string, "OMIM:PS107250"^^xsd:string, "ORDO:88632"^^xsd:string ; oboInOwl:hasExactSynonym "anterior segment developmental anomaly"@en, "corneal opacification and other ocular anomalies"@en, "sclerocornea with other ocular anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060648"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060649 obo:IAO_0000115 "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane."^^xsd:string ; oboInOwl:hasDbXref "OMIM:217700"^^xsd:string ; oboInOwl:hasExactSynonym "CHED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060649"^^xsd:string ; a owl:Class ; rdfs:label "congenital hereditary endothelial dystrophy of cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060443, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060650 obo:IAO_0000115 "An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids."^^xsd:string ; oboInOwl:hasDbXref "GARD:1855"^^xsd:string, "MESH:C536171"^^xsd:string, "OMIM:222730"^^xsd:string, "ORDO:2195"^^xsd:string, "SNOMEDCT_US_2021_03_01:716747007"^^xsd:string, "UMLS_CUI:C1857253"^^xsd:string ; oboInOwl:hasExactSynonym "glutamate-aspartate transport defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060650"^^xsd:string ; a owl:Class ; rdfs:label "dicarboxylic aminoaciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060651 obo:IAO_0000115 "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:155100"^^xsd:string, "ORDO:182050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060651"^^xsd:string ; a owl:Class ; rdfs:label "MYH-9 related disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2218 . obo:DOID_0060652 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.0"^^xsd:string, "OMIM:133100"^^xsd:string, "ORDO:90042"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT1"@en, "autosomal dominant benign erythrocytosis"@en, "primary familial and congenital polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060652"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060653 obo:IAO_0000115 "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ORDO:137783"^^xsd:string ; oboInOwl:hasExactSynonym "Israeli Bedouin type B multiple contracture syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060653"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060654 obo:IAO_0000115 "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:12645"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060654"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital contracture syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060558, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060655 obo:IAO_0000115 "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1699"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "MESH:D017490"^^xsd:string, "NCI:C84805"^^xsd:string, "OMIM:PS242300"^^xsd:string, "ORDO:281097"^^xsd:string, "SNOMEDCT_US_2021_03_01:12215009"^^xsd:string, "UMLS_CUI:C0079154"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI"@en, "lamellar ichthyosis"@en, "non bullous congenital ichthyosiform erythroderma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060655"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_1697, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060656 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:242300"^^xsd:string, "ORDO:100976"^^xsd:string, "ORDO:281122"^^xsd:string, "ORDO:313"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI1"@en ; oboInOwl:hasNarrowSynonym "bathing suit ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060656"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060668 obo:IAO_0000115 "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp."^^xsd:string ; oboInOwl:hasDbXref "GARD:5808"^^xsd:string, "ICD10CM:Q00.0"^^xsd:string, "OMIM:206500"^^xsd:string, "ORDO:1048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060668"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "anencephaly"@en ; rdfs:subClassOf obo:DOID_2490 ; skos:exactMatch "MESH:D000757"^^xsd:string . obo:DOID_0060669 obo:IAO_0000115 "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support."^^xsd:string ; oboInOwl:hasExactSynonym "cavernous angiomatous malformations"@en, "cerebral capillary malformations"@en, "familial cavernous angioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060669"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cerebral cavernous malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_0060670 obo:IAO_0000115 "A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q28.3"^^xsd:string, "OMIM:603284"^^xsd:string, "ORDO:221061"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060670"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cerebral cavernous malformation 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060669 . obo:DOID_0060671 obo:IAO_0000115 "A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q28.3"^^xsd:string, "OMIM:603285"^^xsd:string, "ORDO:221061"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060671"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "cerebral cavernous malformation 3"@en ; rdfs:subClassOf obo:DOID_0060669 . obo:DOID_0060672 obo:IAO_0000115 "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G31.0"^^xsd:string, "OMIM:607485"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060672"^^xsd:string ; a owl:Class ; rdfs:label "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9255, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060673 obo:IAO_0000115 "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7377"^^xsd:string, "ICD10CM:Q13.4"^^xsd:string, "MESH:C537884"^^xsd:string, "OMIM:604229"^^xsd:string, "ORDO:708"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060673"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Peters anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_0060674 obo:IAO_0000115 "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:PS604772"^^xsd:string, "ORDO:3286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060674"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060675 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:604772"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060675"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060676 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:611938"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060676"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060677 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:614021"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060677"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060678 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:614916"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060678"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060679 obo:IAO_0000115 "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I47.2"^^xsd:string, "OMIM:615441"^^xsd:string ; oboInOwl:hasExactSynonym "CVPT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060679"^^xsd:string ; a owl:Class ; rdfs:label "catecholaminergic polymorphic ventricular tachycardia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000827 ] . obo:DOID_0060680 obo:IAO_0000115 "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563184"^^xsd:string, "OMIM:600510"^^xsd:string ; oboInOwl:hasExactSynonym "glaucoma-related pigment dispersion syndrome"@en, "pigment-dispersion type glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060680"^^xsd:string ; a owl:Class ; rdfs:label "pigment dispersion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0060681 obo:IAO_0000115 "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations."^^xsd:string ; oboInOwl:hasDbXref "GARD:11918"^^xsd:string, "OMIM:PS600513"^^xsd:string, "ORDO:98784"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060681"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3331, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060682 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600513"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL1"@en, "nocturnal frontal lobe epilepsy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060682"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060683 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603204"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL2"@en, "nocturnal frontal lobe epilepsy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060683"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060684 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605375"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL3"@en, "nocturnal frontal lobe epilepsy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060684"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060685 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610353"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL4"@en, "nocturnal frontal lobe epilepsy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060685"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060686 obo:IAO_0000115 "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615005"^^xsd:string ; oboInOwl:hasExactSynonym "ENFL5"@en, "nocturnal frontal lobe epilepsy 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060686"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060681 . obo:DOID_0060688 obo:IAO_0000115 "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q28.2"^^xsd:string, "MESH:D002538"^^xsd:string, "OMIM:108010"^^xsd:string, "ORDO:46724"^^xsd:string, "UMLS_CUI:C0007772"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral arteriovenous malformation"@en, "intracranial arteriovenous malformation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060688"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "arteriovenous malformations of the brain"^^xsd:string ; rdfs:subClassOf obo:DOID_0060090, obo:DOID_255, obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000115 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_0060689 obo:IAO_0000115 "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L65.8"^^xsd:string, "OMIM:209500"^^xsd:string, "ORDO:86819"^^xsd:string ; oboInOwl:hasExactSynonym "papular atrichia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060689"^^xsd:string ; a owl:Class ; rdfs:label "atrichia with papular lesions"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_987, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060690 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609129"^^xsd:string ; oboInOwl:hasExactSynonym "AUNA1"@en, "NSDAN"@en, "nonsyndromic dominant auditory neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060690"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant auditory neuropathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0060691 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:187800"^^xsd:string, "ORDO:140957"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Glanzmann thrombasthenia"@en, "autosomal dominant thrombasthenia of Glanzmann and Naegeli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060691"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0060692 obo:IAO_0000115 "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:609821"^^xsd:string, "ORDO:36355"^^xsd:string ; oboInOwl:hasExactSynonym "ADP platelet receptor P2Y12 defect"@en, "P2Y12 defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060692"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0060693 obo:IAO_0000115 "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E70.8"^^xsd:string, "MESH:C563156"^^xsd:string, "OMIM:300615"^^xsd:string, "ORDO:3057"^^xsd:string ; oboInOwl:hasExactSynonym "monoamine oxidase A deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060693"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Brunner Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060694 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.0"^^xsd:string, "MESH:C563363"^^xsd:string, "OMIM:601238"^^xsd:string, "ORDO:94122"^^xsd:string ; oboInOwl:hasExactSynonym "Cayman cerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060694"^^xsd:string ; a owl:Class ; rdfs:label "Cayman type cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0060695 obo:IAO_0000115 "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "OMIM:PS149400"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "Kok disease"@en, "congenital stiff man syndrome"@en, "familial startle disease"@en, "hereditary hyperekplexia"@en, "startle disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060695"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_0060696 obo:IAO_0000115 "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "MESH:D000071017"^^xsd:string, "OMIM:149400"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "HKPX1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060696"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060697 obo:IAO_0000115 "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "OMIM:614619"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "HKPX2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060697"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060698 obo:IAO_0000115 "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.8"^^xsd:string, "OMIM:614618"^^xsd:string, "ORDO:3197"^^xsd:string ; oboInOwl:hasExactSynonym "HKPX3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060698"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "hyperekplexia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060699 obo:IAO_0000115 "A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion."^^xsd:string ; oboInOwl:hasDbXref "GARD:10828"^^xsd:string, "ICD10CM:E83.5"^^xsd:string, "OMIM:PS145980"^^xsd:string, "ORDO:405"^^xsd:string ; oboInOwl:hasExactSynonym "FBH"@en, "FBHH"@en, "FHH"@en, "familial benign hypercalcemia"@en, "familial benign hypocalciuric hypercalcemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060699"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12678, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060700 obo:IAO_0000115 "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.5"^^xsd:string, "OMIM:145980"^^xsd:string, "ORDO:93372"^^xsd:string ; oboInOwl:hasExactSynonym "FHH type 1"@en, "HHC1"@en, "familial benign hypercalcemia 1"@en, "familial hypocalciuric hypercalcemia type I"@en, "hypocalciuric hypercalcemia type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060700"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060699 . obo:DOID_0060701 obo:IAO_0000115 "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9758"^^xsd:string, "ICD10CM:E83.5"^^xsd:string, "OMIM:145981"^^xsd:string, "ORDO:101049"^^xsd:string ; oboInOwl:hasExactSynonym "FHH type 2"@en, "HHC2"@en, "familial hypocalciuric hypercalcemia type 2"@en, "hypocalciuric hypercalcemia type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060701"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060699 . obo:DOID_0060702 obo:IAO_0000115 "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2878"^^xsd:string, "ICD10CM:E83.5"^^xsd:string, "OMIM:600740"^^xsd:string, "ORDO:101050"^^xsd:string ; oboInOwl:hasExactSynonym "FHH type 3"@en, "HHC3"@en, "familial hypocalciuric hypercalcemia type 3"@en, "hypocalciuric hypercalcemia type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060702"^^xsd:string ; a owl:Class ; rdfs:label "familial hypocalciuric hypercalcemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060699 . obo:DOID_0060703 obo:IAO_0000115 "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7097"^^xsd:string, "MESH:C537369"^^xsd:string, "NCI:C84904"^^xsd:string, "OMIM:602849"^^xsd:string, "ORDO:53271"^^xsd:string, "SNOMEDCT_US_2021_03_01:440350001"^^xsd:string, "UMLS_CUI:C1864436"^^xsd:string ; oboInOwl:hasExactSynonym "FGFR3-related craniosynostosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060703"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Muenke Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2340, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060704 obo:IAO_0000115 "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS308240"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060704"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "lymphoproliferative syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0060705 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "GARD:7906"^^xsd:string, "ICD10CM:D82.3"^^xsd:string, "OMIM:308240"^^xsd:string ; oboInOwl:hasExactSynonym "XLP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060705"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "X-linked lymphoproliferative syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060704, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060706 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "GARD:10916"^^xsd:string, "ICD10CM:D82.3"^^xsd:string, "OMIM:300635"^^xsd:string ; oboInOwl:hasExactSynonym "XIAP deficiency"@en, "XLP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060706"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "X-linked lymphoproliferative syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060704, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060707 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:613011"^^xsd:string ; oboInOwl:hasExactSynonym "LPFS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060707"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "lymphoproliferative syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060704, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060708 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:615122"^^xsd:string ; oboInOwl:hasExactSynonym "CD27 deficiency"@en, "LPFS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060708"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "lymphoproliferative syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060704, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060710 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:242100"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI2"@en, "BROCQ congenital ichthyosiform erythroderma nonbullous form"@en, "NCIE1"@en, "nonbullous congenital ichthyosiform erythroderma 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060710"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060711 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:606545"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI3"@en, "lamellar ichthyosis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060711"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060712 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:601277"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI4A"@en, "ICR2B"@en, "ichthyosis congenita IIB"@en, "lamellar ichthyosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060712"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060713 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.4"^^xsd:string, "OMIM:242500"^^xsd:string, "ORDO:457"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI4B"@en, "harlequin ichthyosis"@en, "harlequin type ichthyosis congenita"@en, "harlequin type ichthyosis fetalis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060713"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060714 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:604777"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI5"@en, "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060714"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060715 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:612281"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060715"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060716 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:615022"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060716"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060717 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:613943"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI8"@en, "lamellar ichthyosis 4"@en, "late-onset lamellar ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060717"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060718 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:615023"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060718"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060719 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.2"^^xsd:string, "OMIM:615024"^^xsd:string ; oboInOwl:hasExactSynonym "ARCI10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060719"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060720 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.8"^^xsd:string, "OMIM:602400"^^xsd:string ; oboInOwl:hasExactSynonym "IFAH syndrome"@en, "IHS"@en, "autosomal recessive ichthyosis with hypotrichosis"@en, "hypotrichosis-congenital ichthyosis syndrome"@en, "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis"@en, "ichthyosis-follicular atrophoderma-hypotrichosis syndrome"@en, "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome"@en, "ichthyosis-hypotrichosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060720"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060728 obo:IAO_0000115 "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E77.8"^^xsd:string, "OMIM:615273"^^xsd:string, "ORDO:404454"^^xsd:string ; oboInOwl:hasExactSynonym "NGLY1-CDDG"@en, "congenital disorder of deglycosylation"@en, "congenital disorder of glycosylation type Iv"@en, "deficiency of N-glycanase 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060728"^^xsd:string ; a owl:Class ; rdfs:label "NGLY1-deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060730 obo:IAO_0000115 "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128100"^^xsd:string, "ORDO:256"^^xsd:string ; oboInOwl:hasExactSynonym "dystonia musculorum deformans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060730"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050835, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060731 obo:IAO_0000115 "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:8535"^^xsd:string, "ICD10CM:G47.3"^^xsd:string, "MESH:C536209"^^xsd:string, "OMIM:209880"^^xsd:string, "ORDO:661"^^xsd:string ; oboInOwl:hasExactSynonym "CCHS"@en, "Ondine curse"@en, "Ondine syndrome"@en, "central congenital hypoventilation syndrome"@en, "congenital central alveolar hypoventilation syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060731"^^xsd:string ; a owl:Class ; rdfs:label "congenital central hypoventilation syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_11465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060732 obo:IAO_0000115 "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.5"^^xsd:string, "OMIM:158170"^^xsd:string, "ORDO:261112"^^xsd:string ; oboInOwl:hasExactSynonym "9p syndrome"@en, "Alfi syndrome"@en, "monosomy 9p syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060732"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 9p deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060733 obo:IAO_0000115 "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.8"^^xsd:string, "OMIM:226730"^^xsd:string, "ORDO:79403"^^xsd:string ; oboInOwl:hasExactSynonym "Carmi syndrome"@en, "JEB-PA"@en, "epidermolysis bullosa junctionalis with pyloric atresia"@en, "junctional epidermolysis bullosa-pyloric atresia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060733"^^xsd:string ; a owl:Class ; rdfs:label "junctional epidermolysis bullosa with pyloric atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3209, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060735 obo:IAO_0000115 "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.0"^^xsd:string, "OMIM:131760"^^xsd:string, "ORDO:79396"^^xsd:string ; oboInOwl:hasExactSynonym "EBS-gen sev"@en, "EBSDM"@en, "epidermolysis bullosa herpetiformis Dowling-Meara type"@en, "epidermolysis bullosa simplex, herpetiformis"@en, "generalized severe epidermolysis bullosa simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060735"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex Dowling-Meara type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060736 obo:IAO_0000115 "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.0"^^xsd:string, "OMIM:131950"^^xsd:string, "ORDO:79401"^^xsd:string ; oboInOwl:hasExactSynonym "EBS-O"@en, "EBS-Og"@en, "EBSOG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060736"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex Ogna type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060737 obo:IAO_0000115 "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.1"^^xsd:string, "OMIM:226700"^^xsd:string, "ORDO:79404"^^xsd:string ; oboInOwl:hasExactSynonym "Herlitz type epidermolysis bullosa junctionalis"@en, "Herlitz-Pearson-type epidermolysis bullosa"@en, "JEB-H"@en, "JEB-Herlitz type"@en, "epidermolysis bullosa letalis"@en, "junctional epidermolysis bullosa generalisata gravis"@en, "junctional epidermolysis bullosa, Herlitz-Pearson type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060737"^^xsd:string ; a owl:Class ; rdfs:label "junctional epidermolysis bullosa Herlitz type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3209, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060738 obo:IAO_0000115 "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.8"^^xsd:string, "OMIM:226650"^^xsd:string, "ORDO:79402"^^xsd:string, "ORDO:89840"^^xsd:string ; oboInOwl:hasExactSynonym "GABEB"@en, "JEB-nH gen"@en, "JEN-nH"@en, "generalized atrophic benign epidermolysis bullosa"@en, "generalized junctional epidermolysis bullosa, non-Herlitz type"@en, "junctional epidermolysis bullosa generalisata mitis"@en, "junctional epidermolysis bullosa, Disentis type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060738"^^xsd:string ; a owl:Class ; rdfs:label "junctional epidermolysis bullosa non-Herlitz type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3209, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060739 obo:IAO_0000115 "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:2594"^^xsd:string, "ICD10CM:Q51.2"^^xsd:string, "OMIM:140000"^^xsd:string, "ORDO:2438"^^xsd:string ; oboInOwl:hasExactSynonym "HFGS"@en, "hand-foot-uterus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060739"^^xsd:string ; a owl:Class ; rdfs:label "hand-foot-genital syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0060740 obo:IAO_0000115 "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:251000"^^xsd:string, "ORDO:27"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency"@en, "methylmalonic aciduria mut type"@en, "vitamin B12-unresponsive methylmalonic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060740"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060741 obo:IAO_0000115 "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:613646"^^xsd:string, "ORDO:280183"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic acidemia, TCblR type"@en, "methylmalonic aciduria due to transcobalamin receptor defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060741"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia due to transcobalamin receptor defect"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060742 obo:IAO_0000115 "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:251100"^^xsd:string, "ORDO:79310"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic aciduria cblA type"@en, "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060742"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia cblA type"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060743 obo:IAO_0000115 "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:251110"^^xsd:string, "ORDO:79311"^^xsd:string ; oboInOwl:hasExactSynonym "methylmalonic aciduria cblB type"@en, "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060743"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia cblB type"^^xsd:string ; rdfs:subClassOf obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0060744 obo:IAO_0000115 "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q."^^xsd:string ; oboInOwl:hasDbXref "GARD:4271"^^xsd:string, "ICD10CM:E07.1"^^xsd:string, "MESH:C536648"^^xsd:string, "NCI:C121745"^^xsd:string, "OMIM:274600"^^xsd:string, "ORDO:705"^^xsd:string, "SNOMEDCT_US_2021_03_01:70348004"^^xsd:string, "UMLS_CUI:C0271829"^^xsd:string ; oboInOwl:hasExactSynonym "TDH2B"@en, "congenital hypothyroidism due to dyshormonogenesis 2B"@en, "deafness with goiter"@en, "genetic defect in thyroid hormonogenesis 2B"@en, "goiter-deafness syndrome"@en, "thyroid dyshormonogenesis 2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060744"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pendred Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060745 obo:IAO_0000115 "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "GARD:1912"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "MESH:C535602"^^xsd:string, "OMIM:126600"^^xsd:string, "ORDO:75376"^^xsd:string ; oboInOwl:hasExactSynonym "DHRD"@en, "Doyne honeycomb degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060745"^^xsd:string ; a owl:Class ; rdfs:label "Doyne honeycomb retinal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2569, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060746 obo:IAO_0000115 "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:126700"^^xsd:string, "ORDO:75376"^^xsd:string ; oboInOwl:hasExactSynonym "cuticular drusen"@en, "drusen of bruch membrane"@en, "early adult-onset grouped drusen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060746"^^xsd:string ; a owl:Class ; rdfs:label "basal laminar drusen"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_2569, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060747 obo:IAO_0000115 "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9182"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:607323"^^xsd:string, "ORDO:93293"^^xsd:string ; oboInOwl:hasExactSynonym "DR syndrome"@en, "Duane anomaly with radial ray abnormalities and deafness"@en, "Okihiro syndrome"@en, "acrorenocular syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060747"^^xsd:string ; a owl:Class ; rdfs:label "Duane-radial ray syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060748 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600512"^^xsd:string, "ORDO:101046"^^xsd:string ; oboInOwl:hasExactSynonym "ETL1"@en, "partial epilepsy with auditory features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060748"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060749 obo:IAO_0000115 "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615697"^^xsd:string, "ORDO:163717"^^xsd:string ; oboInOwl:hasExactSynonym "ETL6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060749"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060750 obo:IAO_0000115 "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611630"^^xsd:string, "ORDO:163717"^^xsd:string ; oboInOwl:hasExactSynonym "FMTLE"@en, "familial mesial temporal lobe epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060750"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060751 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616436"^^xsd:string, "ORDO:101046"^^xsd:string ; oboInOwl:hasExactSynonym "ETL7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060751"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060752 obo:IAO_0000115 "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614417"^^xsd:string, "ORDO:163717"^^xsd:string ; oboInOwl:hasExactSynonym "ETL5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060752"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060753 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611631"^^xsd:string, "ORDO:98819"^^xsd:string ; oboInOwl:hasExactSynonym "EPOLM"@en, "ETL4"@en, "occipitotemporal lobe epilepsy and migraine with aura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060753"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060754 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616461"^^xsd:string, "ORDO:101046"^^xsd:string ; oboInOwl:hasExactSynonym "ETL8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060754"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060755 obo:IAO_0000115 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608096"^^xsd:string, "ORDO:98819"^^xsd:string ; oboInOwl:hasExactSynonym "ETL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060755"^^xsd:string ; a owl:Class ; rdfs:label "familial temporal lobe epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3328, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060756 obo:IAO_0000115 "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M85.2"^^xsd:string, "OMIM:269500"^^xsd:string, "ORDO:3152"^^xsd:string ; oboInOwl:hasExactSynonym "SOST1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060756"^^xsd:string ; a owl:Class ; rdfs:label "sclerosteosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060251, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060757 obo:IAO_0000115 "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M85.2"^^xsd:string, "OMIM:614305"^^xsd:string, "ORDO:3152"^^xsd:string ; oboInOwl:hasExactSynonym "SOST2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060757"^^xsd:string ; a owl:Class ; rdfs:label "sclerosteosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060251, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060758 obo:IAO_0000115 "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D80.5"^^xsd:string, "OMIM:605258"^^xsd:string, "ORDO:101089"^^xsd:string, "ORDO:183666"^^xsd:string ; oboInOwl:hasExactSynonym "AID deficiency"@en, "HIGM2"@en, "activation-induced cytidine deaminase deficiency"@en, "hyper-IgM syndrome type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060758"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper-IgM type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080544, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060759 obo:IAO_0000115 "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D80.5"^^xsd:string, "OMIM:608106"^^xsd:string, "ORDO:101092"^^xsd:string, "ORDO:183666"^^xsd:string ; oboInOwl:hasExactSynonym "HIGM5"@en, "hyper-IgM syndrome 5"@en, "hyper-IgM syndrome due to UNG deficiency"@en, "hyper-IgM syndrome due to uracil N-glycosylase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060759"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper IgM type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080544, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060760 obo:IAO_0000115 "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D80.5"^^xsd:string, "OMIM:608184"^^xsd:string, "ORDO:101091"^^xsd:string, "ORDO:183666"^^xsd:string ; oboInOwl:hasExactSynonym "HIGM4"@en, "hyper-IgM syndrome type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060760"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency with hyper-IgM type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0080544 . obo:DOID_0060761 obo:IAO_0000115 "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600080"^^xsd:string ; oboInOwl:hasExactSynonym "familial CML-like syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060761"^^xsd:string ; a owl:Class ; rdfs:label "familial chronic myelocytic leukemia-like syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_8552 . obo:DOID_0060762 obo:IAO_0000115 "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536920"^^xsd:string, "OMIM:275210"^^xsd:string, "ORDO:1662"^^xsd:string, "SNOMEDCT_US_2021_03_01:400128006"^^xsd:string, "UMLS_CUI:C0406585"^^xsd:string ; oboInOwl:hasExactSynonym "hyperkeratosis-contracture syndrome"@en, "tight skin contracture syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060762"^^xsd:string ; a owl:Class ; rdfs:label "lethal restrictive dermopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060763 obo:IAO_0000115 "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q14.1"^^xsd:string, "OMIM:312700"^^xsd:string, "ORDO:792"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked juvenile retinoschisis"@en, "X-linked retinoschisis"@en, "XLRS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060763"^^xsd:string ; a owl:Class ; rdfs:label "X-linked juvenile retinoschisis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_8465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060764 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:268310"^^xsd:string, "ORDO:1507"^^xsd:string ; oboInOwl:hasExactSynonym "COVESDEM syndrome"@en, "RRS"@en, "costovertebral segmentation defect-mesomelia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060764"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Robinow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060765 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616331"^^xsd:string, "ORDO:3107"^^xsd:string ; oboInOwl:hasExactSynonym "DRS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060765"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Robinow syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060766 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:180700"^^xsd:string, "ORDO:3107"^^xsd:string ; oboInOwl:hasExactSynonym "DRS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060766"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Robinow syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060767 obo:IAO_0000115 "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616894"^^xsd:string, "ORDO:3107"^^xsd:string, "ORDO:97360"^^xsd:string ; oboInOwl:hasExactSynonym "DRS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060767"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Robinow syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060254, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060768 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region."^^xsd:string ; oboInOwl:hasDbXref "GARD:8197"^^xsd:string, "ICD10CM:Q93.5"^^xsd:string, "MESH:D058496"^^xsd:string, "OMIM:182290"^^xsd:string, "ORDO:819"^^xsd:string ; oboInOwl:hasExactSynonym "17p11.2 microdeletion syndrome"@en, "chromosome 17p11.2 deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060768"^^xsd:string ; a owl:Class ; rdfs:label "Smith-Magenis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060769 obo:IAO_0000115 "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D82.8"^^xsd:string, "OMIM:601705"^^xsd:string, "ORDO:169095"^^xsd:string ; oboInOwl:hasExactSynonym "alymphoid cystic thymic dysgenesis"@en, "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome"@en, "winged helix deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060769"^^xsd:string ; a owl:Class ; rdfs:label "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060770 obo:IAO_0000115 "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060771" ; oboInOwl:hasDbXref "ICD10CM:Q20.3"^^xsd:string, "OMIM:608808", "ORDO:860"^^xsd:string ; oboInOwl:hasExactSynonym "D-TGA"@en, "DTGA1", "congenitally uncorrected transposition of the great arteries"@en, "congenitally uncorrected transposition of the great vessels"@en, "isolated ventriculoarterial discordance"@en, "ventriculoarterial discordance with atrioventricular concordance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060770"^^xsd:string ; a owl:Class ; rdfs:label "dextro-looped transposition of the great arteries"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_0060771 obo:IAO_0000115 "A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060771"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dextro-looped transposition of the great arteries 1"^^xsd:string ; owl:deprecated true . obo:DOID_0060772 obo:IAO_0000115 """A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13."""^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q20.3"^^xsd:string, "OMIM:613854"^^xsd:string ; oboInOwl:hasExactSynonym "DTGA3"@en, "dextro-looped transposition of the great arteries 3" ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060772"^^xsd:string ; a owl:Class ; rdfs:label "multiple types of congenital heart defects 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1682, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060773 obo:IAO_0000115 "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:375"^^xsd:string, "OMIM:225060"^^xsd:string, "ORDO:3253"^^xsd:string ; oboInOwl:hasExactSynonym "CLPED1"@en, "Margarita type of ectodermal dysplasia"@en, "Zlotogora-Zilberman-Tenenbaum syndrome"@en, "cleft lip/palate-syndactyly-pili torti syndrome"@en, "syndactyly-ectodermal dysplasia-cleft/lip palate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060773"^^xsd:string ; a owl:Class ; rdfs:label "cleft lip-palate-ectodermal dysplasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060774 obo:IAO_0000115 "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS214700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060774"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_13250, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060775 obo:IAO_0000115 "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:7039"^^xsd:string, "ICD10CM:P78.3"^^xsd:string, "MESH:C537470"^^xsd:string, "OMIM:251850"^^xsd:string, "ORDO:2290"^^xsd:string ; oboInOwl:hasExactSynonym "Davidson disease"@en, "MVD"@en, "congenital familial protracted diarrhea with enterocyte brush-border abnormalities"@en, "congenital microvillus atrophy"@en, "diarrhea 2 with microvillus atrophy"@en, "intractable diarrhea of infancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060775"^^xsd:string ; a owl:Class ; rdfs:label "microvillus inclusion disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060776 obo:IAO_0000115 "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:613217"^^xsd:string, "ORDO:92050"^^xsd:string ; oboInOwl:hasExactSynonym "DIAR5"@en, "congenital diarrhoea 5 with tufting enteropathy"@en, "congenital familial intractable diarrhea with epithelial or epithelium abnormalities"@en, "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities"@en, "congenital tufting enteropathy"@en, "tufting enteropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060776"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea 5 with tufting enteropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060777 obo:IAO_0000115 "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:616868"^^xsd:string, "ORDO:103908"^^xsd:string ; oboInOwl:hasExactSynonym "DIAR8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060777"^^xsd:string ; a owl:Class ; rdfs:label "congenital secretory sodium diarrhea 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050129, obo:DOID_0050737, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060778 obo:IAO_0000115 "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:615863"^^xsd:string, "ORDO:329242"^^xsd:string ; oboInOwl:hasExactSynonym "congenital chronic diarrhea with exudative enteropathy"@en, "congenital chronic diarrhea with protein-losing enteropathy"@en, "congenital chronic diarrhoea with exudative enteropathy"@en, "congenital chronic diarrhoea with protein-losing enteropathy"@en, "congenital diarrhoea 7 with exudative enteropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060778"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea 7 with exudative enteropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060779 obo:IAO_0000115 "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:610370"^^xsd:string, "ORDO:83620"^^xsd:string ; oboInOwl:hasExactSynonym "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"@en, "congenital malabsorptive diarrhoea 4"@en, "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells"@en, "enteric anendocrinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060779"^^xsd:string ; a owl:Class ; rdfs:label "congenital malabsorptive diarrhea 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060780 obo:IAO_0000115 "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:614616"^^xsd:string, "ORDO:314373"^^xsd:string ; oboInOwl:hasExactSynonym "chronic diarrhea due to guanylate cyclase 2C overactivity"@en, "chronic diarrhoea due to guanylate cyclase 2C overactivity"@en, "congenital diarrhoea 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060780"^^xsd:string ; a owl:Class ; rdfs:label "congenital diarrhea 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060774, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060781 obo:IAO_0000115 "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P78.3"^^xsd:string, "OMIM:270420"^^xsd:string, "ORDO:103908"^^xsd:string ; oboInOwl:hasExactSynonym "congenital secretory sodium diarrhea 3 syndromic"@en, "congenital secretory sodium diarrhea 3 with or without other congenital anomalies"@en, "congenital secretory sodium diarrhoea 3"@en, "congenital secretory sodium diarrhoea 3 syndromic"@en, "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060781"^^xsd:string ; a owl:Class ; rdfs:label "congenital secretory sodium diarrhea 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050129, obo:DOID_0050737, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0060782 obo:IAO_0000115 "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536189"^^xsd:string, "NCI:C148261"^^xsd:string, "ORDO:1896"^^xsd:string, "SNOMEDCT_US_2021_03_01:39788007"^^xsd:string, "UMLS_CUI:C0406704"^^xsd:string ; oboInOwl:hasExactSynonym "Rudiger syndrome 1"@en, "Walker-Clodius syndrome"@en, "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome"@en, "ectrodactyly-ectodermal dysplasia-clefting syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060782"^^xsd:string ; a owl:Class ; rdfs:label "EEC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:C536189"^^xsd:string . obo:DOID_0060783 obo:IAO_0000115 "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536189"^^xsd:string, "NCI:C148261"^^xsd:string, "OMIM:604292"^^xsd:string, "ORDO:1896"^^xsd:string, "SNOMEDCT_US_2021_03_01:39788007"^^xsd:string, "UMLS_CUI:C0406704"^^xsd:string ; oboInOwl:hasExactSynonym "EEC syndrome 3"@en, "EEC3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060783"^^xsd:string ; a owl:Class ; rdfs:label "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060782 . obo:DOID_0060784 obo:IAO_0000115 "An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536189"^^xsd:string, "NCI:C148261"^^xsd:string, "OMIM:129900"^^xsd:string, "ORDO:1896"^^xsd:string, "SNOMEDCT_US_2021_03_01:39788007"^^xsd:string, "UMLS_CUI:C0406704"^^xsd:string ; oboInOwl:hasExactSynonym "EEC syndrome 1"@en, "EEC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060784"^^xsd:string ; a owl:Class ; rdfs:label "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060785 obo:IAO_0000115 "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q."^^xsd:string ; oboInOwl:hasDbXref "GARD:10587"^^xsd:string, "OMIM:169500"^^xsd:string, "ORDO:99027"^^xsd:string, "SNOMEDCT_US_2021_03_01:448054001"^^xsd:string, "UMLS_CUI:C3164344"^^xsd:string ; oboInOwl:hasExactSynonym "ADLD"@en, "adult-onset autosomal dominant leukodystrophy"@en, "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060785"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset autosomal dominant demyelinating leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0060786 obo:IAO_0000115 "A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS312080"^^xsd:string ; oboInOwl:hasExactSynonym "HLD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060786"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_10579 . obo:DOID_0060787 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:608804"^^xsd:string, "ORDO:280282"^^xsd:string ; oboInOwl:hasExactSynonym "HLD2"@en, "PMLD1"@en, "Pelizaeus-Merzbacher-like disease 1"@en, "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060787"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060788 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616420"^^xsd:string ; oboInOwl:hasExactSynonym "HLD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060788"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060789 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:612233"^^xsd:string, "ORDO:280288"^^xsd:string ; oboInOwl:hasExactSynonym "HLD4"@en, "MitCHAP60 disease"@en, "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"@en, "mitochondrial HSP60 chaperonopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060789"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060790 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:260600"^^xsd:string, "ORDO:280293"^^xsd:string ; oboInOwl:hasExactSynonym "HLD3"@en, "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060790"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060791 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:616140"^^xsd:string, "ORDO:438114"^^xsd:string ; oboInOwl:hasExactSynonym "HLD9"@en, "RARS-related autosomal recessive hypomyelinating leukodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060791"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060792 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.1"^^xsd:string, "OMIM:616494"^^xsd:string ; oboInOwl:hasExactSynonym "HLD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060792"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060793 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G37.8"^^xsd:string, "OMIM:610532"^^xsd:string, "ORDO:85163"^^xsd:string ; oboInOwl:hasExactSynonym "HLD5"@en, "hypomyelination-congenital cataract syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060793"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060794 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.1"^^xsd:string, "OMIM:607694"^^xsd:string, "ORDO:137639"^^xsd:string, "ORDO:447893"^^xsd:string, "ORDO:447896"^^xsd:string, "ORDO:77295"^^xsd:string ; oboInOwl:hasExactSynonym "HLD7"@en, "TACH syndrome"@en, "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy"@en, "dentoleukoencephalopathy"@en, "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"@en, "leukodystrophy with oligodontia"@en, "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome"@en, "tremor-ataxia-central hypomyelination syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060794"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060795 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616881"^^xsd:string ; oboInOwl:hasExactSynonym "HLD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060795"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060796 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616683"^^xsd:string ; oboInOwl:hasExactSynonym "HLD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060796"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060797 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.1"^^xsd:string, "OMIM:614381"^^xsd:string ; oboInOwl:hasExactSynonym "HLD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060797"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060798 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:612438"^^xsd:string, "ORDO:139441"^^xsd:string ; oboInOwl:hasExactSynonym "H-ABC"@en, "HABC"@en, "HLD6"@en, "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum"@en, "hypomyelination with atrophy of basal ganglia and cerebellum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060798"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060799 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537723"^^xsd:string, "NCI:C126747"^^xsd:string, "OMIM:300260"^^xsd:string, "ORDO:85281"^^xsd:string, "SNOMEDCT_US_2021_03_01:702816000"^^xsd:string, "UMLS_CUI:C1846058"^^xsd:string ; oboInOwl:hasExactSynonym "Lubs X-linked mental retardation syndrome"@en, "MECP2 duplication syndrome"@en, "MRXSL"@en, "X-linked intellectual disability-hypotonia-recurrent Infections syndrome"@en, "mental retardation, X-linked, syndromic, Lubs type"@en, "mental retardation, X-linked, with recurrent respiratory infections"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060799"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Lubs type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0060429, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0060800 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535773"^^xsd:string, "NCI:C124839"^^xsd:string, "OMIM:304340"^^xsd:string, "ORDO:1568"^^xsd:string, "ORDO:85335"^^xsd:string, "SNOMEDCT_US_2021_03_01:719139003"^^xsd:string, "UMLS_CUI:C0796254"^^xsd:string ; oboInOwl:hasExactSynonym "Fried syndrome"@en, "MRX59"@en, "MRXS21"@en, "Mental retardation, X-linked syndromic 5"@en, "Pettigrew syndrome"@en, "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"@en, "X-linked mental retardation 59"@en, "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures"@en, "syndromic X-linked mental retardation 21"@en, "syndromic X-linked mental retardation Fried type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060800"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060801 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537451"^^xsd:string, "OMIM:300148"^^xsd:string, "ORDO:85282"^^xsd:string, "SNOMEDCT_US_2021_03_01:722037004"^^xsd:string, "UMLS_CUI:C1846278"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS20"@en, "MRXS25"@en, "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome"@en, "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity"@en, "syndromic X-linked mental retardation 20"@en, "syndromic X-linked mental retardation 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060801"^^xsd:string ; a owl:Class ; rdfs:label "MEHMO syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060802 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5615"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:309583"^^xsd:string, "ORDO:3063"^^xsd:string ; oboInOwl:hasExactSynonym "SRS"@en, "Snyder-Robinson mental retardation syndrome"@en, "Snyder-Robinson syndrome"@en, "mental retardation, X-linked, Snyder-Robinson type"@en, "spermine synthase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060802"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Snyder type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060803 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300858"^^xsd:string, "ORDO:289483"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked mental retardation with alacrima and achalasia"@en, "intellectual disability-alacrima-achalasia syndrome"@en, "mental retardation, X-linked, syndromic 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060803"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060804 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:309545"^^xsd:string, "ORDO:85290"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked intellectual disability, Wilson type"@en, "mental retardation, X-linked, syndromic 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060804"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060805 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309610"^^xsd:string, "ORDO:2958"^^xsd:string ; oboInOwl:hasExactSynonym "Prieto-Badia-Mulas syndrome"@en, "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060805"^^xsd:string ; a owl:Class ; rdfs:label "Prieto syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060806 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300423"^^xsd:string, "ORDO:93952"^^xsd:string ; oboInOwl:hasExactSynonym "MRXE"@en, "MRXSH"@en, "X-linked mental retardation with epilepsy"@en, "mental retardation, X-linked, syndromic, Hedera type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060806"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Hedera type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060807 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "GARD:12669"^^xsd:string, "ICD10CM:Q04.3"^^xsd:string, "OMIM:300749"^^xsd:string, "ORDO:163937"^^xsd:string ; oboInOwl:hasExactSynonym "MICPCH"@en, "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"@en, "mental retardation and microcephaly with pontine and cerebellar hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060807"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Najm type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060808 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9156"^^xsd:string, "MESH:C537449"^^xsd:string, "OMIM:300218"^^xsd:string, "ORDO:85274"^^xsd:string, "UMLS_CUI:C1846170"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS7"@en, "X-linked intellectual disability, Ahmad type"@en, "mental retardation, X-linked syndromic 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060808"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060809 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300534"^^xsd:string, "ORDO:85279"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSCJ"@en, "MRXSJ"@en, "mental retardation, X-linked, syndromic, Claes-Jensen type"@en, "syndromic X-linked intellectual disability due to JARID1C mutation"@en, "syndromic X-linked mental retardation JARID1C-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060809"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Claes-Jensen type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060810 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.5"^^xsd:string, "OMIM:300438"^^xsd:string, "ORDO:85295"^^xsd:string ; oboInOwl:hasExactSynonym "HSD10 deficiency, atypical type"@en, "HSD10 disease, atypical type"@en, "MRXS10"@en, "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome"@en, "mental retardation, X-linked syndromic 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060810"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060811 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060829"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:309590"^^xsd:string, "ORDO:3056"^^xsd:string, "ORDO:85328"^^xsd:string ; oboInOwl:hasExactSynonym "Brooks-Wisniewski-Brown syndrome"@en, "MRXST"@en, "X-linked intellectual disability, Brooks type"@en, "mental retardation and macrocephaly syndrome"@en, "mental retardation, X-linked syndromic, Turner type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060811"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Turner type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060812 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537333"^^xsd:string, "OMIM:300263"^^xsd:string, "ORDO:85287"^^xsd:string, "UMLS_CUI:C1846055"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSSD"@en, "Siderius X-linked mental retardation syndrome"@en, "Siderius-Hamel syndrome"@en, "mental retardation syndrome, X-linked, Siderius type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060812"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Siderius type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060813 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300709"^^xsd:string, "ORDO:85324"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS9"@en, "mental retardation, X-linked, syndromic 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060813"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Shrimpton type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060814 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12."^^xsd:string ; oboInOwl:hasDbXref "GARD:5579"^^xsd:string, "OMIM:309585"^^xsd:string, "ORDO:3459"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS6"@en, "WTS"@en, "X-linked intellectual disability-gynecomastia-obesity syndrome"@en, "mental retardation, X-linked, syndromic 6"@en, "mental retardation, X-linked, with gynecomastia and obesity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060814"^^xsd:string ; a owl:Class ; rdfs:label "Wilson-Turner syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060815 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537472"^^xsd:string, "OMIM:314580"^^xsd:string, "ORDO:85283"^^xsd:string, "UMLS_CUI:C1839735"^^xsd:string ; oboInOwl:hasExactSynonym "MCS"@en, "MRXS4"@en, "X-linked intellectual disability, Miles-Carpenter type"@en, "mental retardation, X-linked, syndromic 4"@en, "mental retardation, X-linked, with congenital contractures and low fingertip arches"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060815"^^xsd:string ; a owl:Class ; rdfs:label "Miles-Carpenter syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060816 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300472"^^xsd:string, "ORDO:52055"^^xsd:string ; oboInOwl:hasExactSynonym "Graham-Cox syndrome"@en, "MRXS28"@en, "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia"@en, "mental retardation, X-linked, syndromic 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060816"^^xsd:string ; a owl:Class ; rdfs:label "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060817 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300967"^^xsd:string, "ORDO:466791"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS34"@en, "MRXSML"@en, "macrocephaly-intellectual disability-left ventricular non compaction syndrome"@en, "mental retardation, X-linked, syndromic 34"@en, "syndromic X-linked mental retardation Mircsof-Langouet type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060817"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060818 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535556"^^xsd:string, "OMIM:300262"^^xsd:string, "ORDO:85273"^^xsd:string, "UMLS_CUI:C1846056"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSAB"@en, "mental retardation, X-linked syndromic, Abidi type"@en, "syndromic X-linked mental retardation Abidi type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060818"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Abidi type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060819 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300861"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSCS"@en, "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance"@en, "mental retardation, X-linked, syndromic, Chudley-Schwartz type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060819"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Chudley-Schwartz type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0060820 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300860"^^xsd:string, "ORDO:163956"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked intellectual disability-nail dystrophy-seizures syndrome"@en, "mental retardation, X-linked syndromic, Nascimento-type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060820"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Nascimento type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060821 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537724"^^xsd:string, "OMIM:300676"^^xsd:string, "ORDO:323"^^xsd:string, "ORDO:776"^^xsd:string, "SNOMEDCT_US_2021_03_01:422437002"^^xsd:string, "UMLS_CUI:C0796022"^^xsd:string ; oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060821"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060822 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "GARD:13244"^^xsd:string, "ICD10CM:Q87.8"^^xsd:string, "OMIM:300354"^^xsd:string, "ORDO:85293"^^xsd:string ; oboInOwl:hasExactSynonym "Cabezas syndrome; syndromic X-linked mental retardation 15"@en, "MRSS"@en, "MRXS15"@en, "MRXSC"@en, "X-linked mental retardation with short stature"@en, "X-linked mental retardation with short stature, hypogonadism, and abnormal gait"@en, "mental retardation, X-linked, syndromic 15"@en, "mental retardation, X-linked, syndromic 15 (Cabezas type)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060822"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Cabezas type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060823 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F72"^^xsd:string, "OMIM:300699"^^xsd:string, "ORDO:364028"^^xsd:string ; oboInOwl:hasExactSynonym "MRX94"@en, "MRXS29"@en, "mental retardation, X-linked 94"@en, "syndromic X-linked intellectual disability due to GRIA3 anomalies"@en, "syndromic X-linked mental retardation 29"@en, "syndromic X-linked mental retardation Wu type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060823"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability 94"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060824 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300799"^^xsd:string, "ORDO:163953"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSR"@en, "X-linked syndromic intellectual developmental disorder Raymond type"^^xsd:string, "mental retardation, X-linked syndromic, Raymond type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060824"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Raymond type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060825 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "GARD:10572"^^xsd:string, "MESH:C537450"^^xsd:string, "OMIM:300243"^^xsd:string, "ORDO:85278"^^xsd:string, "UMLS_CUI:C1846130"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSCH"@en, "X-linked Angelman-like syndrome"@en, "X-linked intellectual disability, South African type"@en, "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome"@en, "mental retardation, X-linked syndromic, Christianson type"@en, "mental retardation, microcephaly, epilepsy, and ataxia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060825"^^xsd:string ; a owl:Class ; rdfs:label "Christianson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] ; skos:broadMatch "MESH:C567484"^^xsd:string ; skos:exactMatch "MESH:C537450"^^xsd:string . obo:DOID_0060826 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300238"^^xsd:string, "ORDO:85286"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS11"@en, "SMRXS"@en, "Shashi X-linked mental retardation syndrome"@en, "X-linked mental retardation Shashi type"@en, "mental retardation, X-linked, syndromic 11, Shashi type"@en, "syndromic X-linked intellectual disability type 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060826"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disability Shashi type"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060827 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F71.1"^^xsd:string, "OMIM:300055"^^xsd:string, "ORDO:3077"^^xsd:string ; oboInOwl:hasExactSynonym "Lindsay-Burn syndrome"@en, "MRXS13"@en, "PPM-X"@en, "X-linked mental retardation 79"@en, "X-linked mental retardation with spasticity"@en, "mental retardation with psychosis, pyramidal signs, and macroorchidism"@en, "mental retardation, X-linked, syndromic 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060827"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual disability-psychosis-macroorchidism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060828 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300886"^^xsd:string, "ORDO:324410"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS32"@en, "mental retardation, X-linked, syndromic 32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060828"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ] . obo:DOID_0060829 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060829"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Brooks-Wisniewski-Brown syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0060830 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:300519"^^xsd:string, "ORDO:85321"^^xsd:string ; oboInOwl:hasExactSynonym "Martin-Probst syndrome"@en, "mental retardation, X-linked, syndromic, Martin-Probst type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060830"^^xsd:string ; a owl:Class ; rdfs:label "deafness-intellectual disability, Martin-Probst type syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0060831 obo:IAO_0000115 "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin."^^xsd:string ; oboInOwl:hasDbXref "GARD:10913"^^xsd:string, "ICD10CM:E70.3"^^xsd:string, "OMIM:PS214450"^^xsd:string, "ORDO:381"^^xsd:string ; oboInOwl:hasExactSynonym "Chediak-Higashi-like syndrome"@en, "Griscelli-Prunieras syndrome"@en, "partial albinism-immunodeficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060831"^^xsd:string ; a owl:Class ; rdfs:label "Griscelli syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_16, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060832 obo:IAO_0000115 "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2566"^^xsd:string, "MESH:C537301"^^xsd:string, "OMIM:214450"^^xsd:string, "ORDO:79476"^^xsd:string, "UMLS_CUI:C1859194"^^xsd:string ; oboInOwl:hasExactSynonym "GS1"@en, "Griscelli syndrome with neurological impairment"@en, "Griscelli syndrome, cutaneous and neurological type"@en, "Griscelli-Prunieras syndrome type 1"@en, "hypopigmentation-neurologic impairment syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060832"^^xsd:string ; a owl:Class ; rdfs:label "Griscelli syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060831 . obo:DOID_0060833 obo:IAO_0000115 "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4483"^^xsd:string, "MESH:C537302"^^xsd:string, "NCI:C111814"^^xsd:string, "OMIM:607624"^^xsd:string, "ORDO:79477"^^xsd:string, "UMLS_CUI:C1868679"^^xsd:string ; oboInOwl:hasExactSynonym "GS2"@en, "Griscelli syndrome with hemophagocytic syndrome"@en, "Griscelli-Prunieras syndrome type 2"@en, "PAID syndrome"@en, "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"@en, "partial albinism and immunodeficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060833"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Griscelli syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060831 . obo:DOID_0060834 obo:IAO_0000115 "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:9715"^^xsd:string, "MESH:C537303"^^xsd:string, "OMIM:609227"^^xsd:string, "ORDO:79478"^^xsd:string, "UMLS_CUI:C1836573"^^xsd:string ; oboInOwl:hasExactSynonym "GS3"@en, "Griscelli-Prunieras syndrome type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060834"^^xsd:string ; a owl:Class ; rdfs:label "Griscelli syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060831 . obo:DOID_0060835 obo:IAO_0000115 "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:613517"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP6"@en, "posterior nonsyndromic microphthalmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060835"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060836 obo:IAO_0000115 "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:613094"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060836"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0060837 obo:IAO_0000115 "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q15.8"^^xsd:string, "OMIM:611040"^^xsd:string, "ORDO:251279"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP5"@en, "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"@en, "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060837"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060838 obo:IAO_0000115 "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:613704"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060838"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060839 obo:IAO_0000115 "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:610093"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060839"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060840 obo:IAO_0000115 "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:251600"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060840"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060841 obo:IAO_0000115 "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:615113"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060841"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060842 obo:IAO_0000115 "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.0"^^xsd:string, "OMIM:611038"^^xsd:string, "ORDO:2542"^^xsd:string ; oboInOwl:hasExactSynonym "MCOP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060842"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080637, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060843 obo:IAO_0000115 "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536965"^^xsd:string, "OMIM:162500"^^xsd:string, "ORDO:640"^^xsd:string, "SNOMEDCT_US_2021_03_01:230558006"^^xsd:string, "UMLS_CUI:C0393814"^^xsd:string ; oboInOwl:hasExactSynonym "HNPP"@en, "current pressure-sensitive neuropathy"@en, "familial recurrent polyneuropathy"@en, "heterozygous microdeletion 17p11.2p12"@en, "potato-grubbing palsy"@en, "tomaculous neuropathy"@en, "tulip-bulb digger's palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060843"^^xsd:string ; a owl:Class ; rdfs:label "hereditary neuropathy with liability to pressure palsies"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0060844 obo:IAO_0000115 "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "GARD:7224"^^xsd:string, "MESH:C537849"^^xsd:string, "NCI:C118634"^^xsd:string, "OMIM:310600"^^xsd:string, "ORDO:649"^^xsd:string, "SNOMEDCT_US_2021_03_01:15228007"^^xsd:string, "UMLS_CUI:C0266526"^^xsd:string ; oboInOwl:hasExactSynonym "Episkopi blindness"@en, "Norrie-Warburg disease"@en, "atrophia bulborum hereditaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060844"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Norrie disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060847 obo:IAO_0000115 "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain."^^xsd:string ; oboInOwl:hasDbXref "GARD:3224"^^xsd:string, "MESH:C537119"^^xsd:string, "NCI:C126560"^^xsd:string, "OMIM:127300"^^xsd:string, "ORDO:240"^^xsd:string, "SNOMEDCT_US_2021_03_01:17818006"^^xsd:string, "UMLS_CUI:C0265309"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060847"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Leri-Weill dyschondrosteosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0060848 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10806"^^xsd:string, "OMIM:300088"^^xsd:string, "ORDO:101039"^^xsd:string ; oboInOwl:hasExactSynonym "DEE9"^^xsd:string, "EFMR"@en, "EIEE9"@en, "Juberg Hellman syndrome"@en, "early infantile epileptic encephalopathy 9"^^xsd:string, "early infantile female-limited epilecptic encephalopathy"@en, "female restricted epilepsy with mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060848"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0060849 obo:IAO_0000115 "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4160"^^xsd:string, "MESH:C536063"^^xsd:string, "NCI:C130998"^^xsd:string, "OMIM:259770"^^xsd:string, "ORDO:2788"^^xsd:string, "SNOMEDCT_US_2021_03_01:254112001"^^xsd:string, "UMLS_CUI:C0432252"^^xsd:string ; oboInOwl:hasExactSynonym "OPPG"@en, "ocular form of osteogenesis imperfecta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteoporosis-pseudoglioma syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060850 obo:IAO_0000115 "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:705"^^xsd:string, "ICD10CM:Q45.1"^^xsd:string, "MESH:C536376"^^xsd:string, "NCI:C98813"^^xsd:string, "OMIM:167750"^^xsd:string, "ORDO:675"^^xsd:string, "SNOMEDCT_US_2021_03_01:40315008"^^xsd:string, "UMLS_CUI:C0149955"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060850"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "annular pancreas"^^xsd:string ; rdfs:subClassOf obo:DOID_26 . obo:DOID_0060851 obo:IAO_0000115 "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance."^^xsd:string ; oboInOwl:hasDbXref "GARD:7355"^^xsd:string, "ICD10CM:L10.0"^^xsd:string, "MESH:D010392"^^xsd:string, "NCI:C34910"^^xsd:string, "OMIM:169610"^^xsd:string, "ORDO:704"^^xsd:string, "SNOMEDCT_US_2021_03_01:49420001"^^xsd:string, "UMLS_CUI:C0030809"^^xsd:string ; oboInOwl:hasExactSynonym "familial pemphigus vulgaris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060851"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pemphigus vulgaris"^^xsd:string ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0060852 obo:IAO_0000115 "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9420"^^xsd:string, "MESH:C537185"^^xsd:string, "NCI:C128145"^^xsd:string, "OMIM:609049"^^xsd:string, "ORDO:2670"^^xsd:string, "SNOMEDCT_US_2021_03_01:723449004"^^xsd:string, "UMLS_CUI:C1836876"^^xsd:string ; oboInOwl:hasExactSynonym "microcoria-congenital nephrosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060852"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Pierson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060853 obo:IAO_0000115 "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10145"^^xsd:string, "MESH:C538355"^^xsd:string, "NCI:C124846"^^xsd:string, "OMIM:610883"^^xsd:string, "ORDO:1713"^^xsd:string, "SNOMEDCT_US_2021_03_01:734016004"^^xsd:string, "UMLS_CUI:C2931246"^^xsd:string ; oboInOwl:hasExactSynonym "17p11.2 microduplication syndrome"@en, "chromosome 17p11.2 duplication syndrome"@en, "trisomy 17p11.2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060853"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Potocki-Lupski syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0060854 obo:IAO_0000115 "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G."^^xsd:string ; oboInOwl:hasDbXref "GARD:4552"^^xsd:string, "MESH:D011546"^^xsd:string, "NCI:C123251"^^xsd:string, "OMIM:264350"^^xsd:string, "ORDO:171876"^^xsd:string, "ORDO:756"^^xsd:string, "SNOMEDCT_US_2021_03_01:43941006"^^xsd:string, "UMLS_CUI:C0268436"^^xsd:string ; oboInOwl:hasExactSynonym "PHA1B"@en, "autosomal recessive PHA 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060854"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autosomal recessive pseudohypoaldosteronism type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4479, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060855 obo:IAO_0000115 "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:9145"^^xsd:string, "MESH:D011546"^^xsd:string, "OMIM:177735"^^xsd:string, "ORDO:756"^^xsd:string, "UMLS_CUI:C1449843"^^xsd:string ; oboInOwl:hasExactSynonym "PHA1A"@en, "autosomal dominant PHA 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060855"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant pseudohypoaldosteronism type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4479, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060856 obo:IAO_0000115 "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q20.6"^^xsd:string, "OMIM:208530"^^xsd:string, "ORDO:97548"^^xsd:string ; oboInOwl:hasExactSynonym "Ivemark syndrome"@en, "asplenia with cardiovascular anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060856"^^xsd:string ; a owl:Class ; rdfs:label "right atrial isomerism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050545, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060857 obo:IAO_0000115 "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "GARD:7627"^^xsd:string, "MESH:D025962"^^xsd:string, "NCI:C85063"^^xsd:string, "OMIM:182230"^^xsd:string, "ORDO:3157"^^xsd:string, "SNOMEDCT_US_2021_03_01:204073006"^^xsd:string, "UMLS_CUI:C0338503"^^xsd:string ; oboInOwl:hasExactSynonym "De Morsier syndrome"@en, "SOD"@en, "septo-optic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060857"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "septooptic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0060858 obo:IAO_0000115 "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E72.0"^^xsd:string, "OMIM:606407"^^xsd:string, "ORDO:163690"^^xsd:string ; oboInOwl:hasExactSynonym "cystinuria with mitochondrial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060858"^^xsd:string ; a owl:Class ; rdfs:label "hypotonia-cystinuria syndrome"@en ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0060859 obo:IAO_0000115 "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A02.0"^^xsd:string, "ICD9CM:003.0"^^xsd:string ; oboInOwl:hasExactSynonym "Salmonella infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060859"^^xsd:string ; a owl:Class ; rdfs:label "salmonellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0060861 obo:IAO_0000115 "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.2"^^xsd:string, "OMIM:206920"^^xsd:string, "ORDO:1106"^^xsd:string ; oboInOwl:hasExactSynonym "MLA"@en, "OAS"@en, "Waardenburg anophthalmia syndrome"@en, "anophthalmia-syndactyly syndrome"@en, "ophthalmoacromelic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060861"^^xsd:string ; a owl:Class ; rdfs:label "microphthalmia with limb anomalies"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060862 obo:IAO_0000115 "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:248300"^^xsd:string, "ORDO:87503"^^xsd:string ; oboInOwl:hasExactSynonym "Meleda disease"@en, "keratosis palmoplantaris transgrediens of Siemens"@en, "transgrediens palmoplantar keratoderma of Siemens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060862"^^xsd:string ; a owl:Class ; rdfs:label "mal de Meleda"@en ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0060863 obo:IAO_0000115 "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:PS169150"^^xsd:string, "ORDO:99001"^^xsd:string ; oboInOwl:hasExactSynonym "patterned dystrophy of retinal pigment epithelium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060863"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4448 . obo:DOID_0060864 obo:IAO_0000115 "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608970"^^xsd:string ; oboInOwl:hasExactSynonym "MDPT2"@en, "butterfly-shaped pigmentary maculary dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060864"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060863 . obo:DOID_0060865 obo:IAO_0000115 "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617111"^^xsd:string ; oboInOwl:hasExactSynonym "MDPT3"@en, "Martinique crinkled retinal pigment epitheliopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060865"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060863 . obo:DOID_0060866 obo:IAO_0000115 "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:169150"^^xsd:string ; oboInOwl:hasExactSynonym "MDPT1"@en, "butterfly-shaped pigmentary maculary dystrophy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060866"^^xsd:string ; a owl:Class ; rdfs:label "patterned macular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060863 . obo:DOID_0060867 obo:IAO_0000115 "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605309"^^xsd:string, "ORDO:210548"^^xsd:string ; oboInOwl:hasExactSynonym "macrocephaly-intellectual disability-autism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060867"^^xsd:string ; a owl:Class ; rdfs:label "macrocephaly-autism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000256 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000343 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011800 ] . obo:DOID_0060868 obo:IAO_0000115 "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:231"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:603896"^^xsd:string, "ORDO:135"^^xsd:string ; oboInOwl:hasExactSynonym "CACH"@en, "Cree leukoencephalopathy"@en, "childhood ataxia with central nervous system hypomyelination"@en, "vanishing white matter leukodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060868"^^xsd:string ; a owl:Class ; rdfs:label "leukoencephalopathy with vanishing white matter"^^xsd:string ; rdfs:subClassOf obo:DOID_10579 . obo:DOID_0060869 obo:IAO_0000115 "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:4357"^^xsd:string, "OMIM:605670"^^xsd:string, "ORDO:67042"^^xsd:string ; oboInOwl:hasExactSynonym "LORD"@en, "autosomal dominant late-onset retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060869"^^xsd:string ; a owl:Class ; rdfs:label "late-onset retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_0060870 obo:IAO_0000115 "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones."^^xsd:string ; oboInOwl:hasDbXref "GARD:12556"^^xsd:string, "ICD10CM:E23.0"^^xsd:string, "ICD9CM:253.3"^^xsd:string, "MESH:D004393"^^xsd:string, "NCI:C34555"^^xsd:string, "ORDO:631"^^xsd:string, "SNOMEDCT_US_2021_03_01:270485009"^^xsd:string, "UMLS_CUI:C0013338"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD"@en, "congenital IGHD"@en, "congenital isolated GH deficiency"@en, "congenital isolated growth hormone deficiency"@en, "familial isolated growth hormone deficiency"@en, "non-acquired isolated growth hormone deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060870"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "isolated growth hormone deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_9406 . obo:DOID_0060871 obo:IAO_0000115 "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q80.8"^^xsd:string, "OMIM:148210"^^xsd:string, "ORDO:477"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant KID syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060871"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant keratitis-ichthyosis-deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060872 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:173100"^^xsd:string, "ORDO:231679"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD II"@en, "autosomal dominant isolated growth hormone deficiency"@en, "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency"@en, "congenital IGHD type II"@en, "congenital isolated GH deficiency type II"@en, "congenital isolated growth hormone deficiency type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060872"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870 . obo:DOID_0060873 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:262400"^^xsd:string, "ORDO:231662"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD IA"@en, "Illig-type growth hormone deficiency"@en, "autosomal recessive isolated growth hormone deficiency"@en, "pituitary dwarfism I"@en, "primordial dwarfism"@en, "sexual ateleiotic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060873"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870 . obo:DOID_0060874 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:612781"^^xsd:string, "ORDO:231671"^^xsd:string ; oboInOwl:hasExactSynonym "IGHD IB"@en, "congenital IGHD type IB"@en, "congenital isolated GH deficiency type IB"@en, "congenital isolated growth hormone deficiency type IB"@en, "dwarfism of Sindh"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060874"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870 . obo:DOID_0060875 obo:IAO_0000115 "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3921"^^xsd:string, "ICD10CM:E23.0"^^xsd:string, "OMIM:307200"^^xsd:string, "ORDO:231692"^^xsd:string ; oboInOwl:hasExactSynonym "Fleisher syndrome"@en, "IGHD III"@en, "X-linked IGHD"@en, "X-linked agammaglobulinemia and isolated growth hormone deficiency"@en, "X-linked hypogammaglobulinemia and isolated growth hormone deficiency"@en, "X-linked isolated growth hormone deficiency"@en, "congenital IGHD type III"@en, "congenital isolated GH deficiency type III"@en, "congenital isolated growth hormone deficiency type III"@en, "growth hormone deficiency with hypogammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060875"^^xsd:string ; a owl:Class ; rdfs:label "isolated growth hormone deficiency type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0060870, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0060877 obo:IAO_0000115 "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2966"^^xsd:string, "MESH:D053560"^^xsd:string, "NCI:C84777"^^xsd:string, "OMIM:146800"^^xsd:string, "ORDO:455"^^xsd:string, "SNOMEDCT_US_2021_03_01:254169002"^^xsd:string, "UMLS_CUI:C0432306"^^xsd:string ; oboInOwl:hasExactSynonym "bullous type ichthyosis"@en, "ichthyosis bullosa of Siemens"@en, "superficial epidermolytic ichthyosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060877"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bullous congenital ichthyosiform erythroderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1697, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060878 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537907"^^xsd:string, "NCI:C130983"^^xsd:string, "OMIM:146255"^^xsd:string, "ORDO:2237"^^xsd:string, "SNOMEDCT_US_2021_03_01:724282009"^^xsd:string, "UMLS_CUI:C1840333"^^xsd:string ; oboInOwl:hasExactSynonym "Barakat syndrome"@en, "HDR syndrome"@en, "hypoparathyroidism, sensorineural deafness, and renal disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060878"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypoparathyroidism-deafness-renal disease syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0060879 obo:IAO_0000115 "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:PS602014"^^xsd:string, "ORDO:34526"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG"@en, "primary familial hypomagnesemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060879"^^xsd:string ; a owl:Class ; rdfs:label "primary hypomagnesemia"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_0060880 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:248250"^^xsd:string, "ORDO:31043"^^xsd:string ; oboInOwl:hasExactSynonym "FHHNC without severe ocular involvement"@en, "HOMG3"@en, "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"@en, "isolated renal hypomagnesemia"@en, "primary hypomagnesemia due to defect in renal tubular transport of magnesium"@en, "renal hypomagnesemia type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060880"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060881 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536148"^^xsd:string, "OMIM:248190"^^xsd:string, "ORDO:2196"^^xsd:string, "UMLS_CUI:C2931121"^^xsd:string ; oboInOwl:hasExactSynonym "FHHNC with severe ocular involvement"@en, "Meier-Blumberg-Imahorn syndrome"@en, "bilateral macular coloboma with hypercalciuria"@en, "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement"@en, "hypercalciuria-bilateral macular coloboma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060881"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 5 with ocular involvement"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060882 obo:IAO_0000115 "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material_basis_in variation in the chromosome region 4q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:611718"^^xsd:string, "ORDO:34527"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060882"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060883 obo:IAO_0000115 "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.4"^^xsd:string, "OMIM:602014"^^xsd:string, "ORDO:30924"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG1"@en, "hypomagnesemia caused by selective magnesium malabsorption"@en, "hypomagnesemia intestinal type 1"@en, "hypomagnesemic tetany"@en, "intestinal hypomagnesemia with secondary hypocalcemia"@en, "primary hypomagnesemia with secondary hypocalcemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060883"^^xsd:string ; a owl:Class ; rdfs:label "intestinal hypomagnesemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060884 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:12155"^^xsd:string, "ICD10CM:E83.4"^^xsd:string, "OMIM:613882"^^xsd:string, "ORDO:34527"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060884"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060885 obo:IAO_0000115 "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3350"^^xsd:string, "ICD10CM:E83.4"^^xsd:string, "OMIM:154020"^^xsd:string, "ORDO:34528"^^xsd:string ; oboInOwl:hasExactSynonym "HOMG2"@en, "autosomal dominant primary hypomagnesemia with hypocalciuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060885"^^xsd:string ; a owl:Class ; rdfs:label "renal hypomagnesemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060879 . obo:DOID_0060886 obo:IAO_0000115 "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has material_basis_in mutation in the AMER1 gene on chromosome Xq11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536053"^^xsd:string, "OMIM:300373"^^xsd:string, "ORDO:2780"^^xsd:string, "SNOMEDCT_US_2021_03_01:254129003"^^xsd:string, "UMLS_CUI:C0432268"^^xsd:string ; oboInOwl:hasExactSynonym "Robinow-Unger syndrome"@en, "hyperostosis generalisata with striations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060886"^^xsd:string ; a owl:Class ; rdfs:label "osteopathia striata with cranial sclerosis"@en ; rdfs:subClassOf obo:DOID_4254 . obo:DOID_0060887 obo:IAO_0000115 "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia."^^xsd:string ; oboInOwl:hasDbXref "GARD:9699"^^xsd:string, "OMIM:602475"^^xsd:string ; oboInOwl:hasExactSynonym "OPLL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060887"^^xsd:string ; a owl:Class ; rdfs:label "ossification of the posterior longitudinal ligament of spine"@en ; rdfs:subClassOf obo:DOID_0060564, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0060888 obo:IAO_0000115 "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:12765"^^xsd:string, "ICD10CM:D47.7"^^xsd:string, "OMIM:159595"^^xsd:string, "ORDO:420611"^^xsd:string ; oboInOwl:hasExactSynonym "MST"@en, "TAM"@en, "transient abnormal myelopoiesis"@en, "transient leukemia"@en, "transient leukemia of Down syndrome"@en, "transient myeloproliferative disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060888"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "transient myeloproliferative syndrome"@en ; rdfs:subClassOf obo:DOID_2226 . obo:DOID_0060889 obo:IAO_0000115 "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "GARD:7479"^^xsd:string, "ICD10CM:Q79.4"^^xsd:string, "MESH:D011535"^^xsd:string, "OMIM:100100"^^xsd:string, "ORDO:2970"^^xsd:string ; oboInOwl:hasExactSynonym "Eagle-Barret syndrome"@en, "Obrisnksy syndrome"@en, "abdominal muscle deficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060889"^^xsd:string ; a owl:Class ; rdfs:label "prune belly syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060890 obo:IAO_0000115 "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E24.3"^^xsd:string, "ORDO:99889"^^xsd:string ; oboInOwl:hasExactSynonym "Cushing syndrome due to ectopic ACTH secretion"@en, "ectopic ACTH secreting tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060890"^^xsd:string ; a owl:Class ; rdfs:label "ectopic Cushing syndrome"@en ; rdfs:subClassOf obo:DOID_446 . obo:DOID_0060891 obo:IAO_0000115 "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G20"^^xsd:string, "OMIM:615528"^^xsd:string, "ORDO:391411"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile onset Parkinson disease 19A"@en, "juvenile onset Parkinson's disease 19A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060891"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 19A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060892 obo:IAO_0000115 "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age."^^xsd:string ; oboInOwl:hasDbXref "OMIM:168600"^^xsd:string, "ORDO:411602"^^xsd:string ; oboInOwl:hasExactSynonym "late onset Parkinson disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060892"^^xsd:string ; a owl:Class ; rdfs:label "late onset Parkinson's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_14330 . obo:DOID_0060893 obo:IAO_0000115 "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age."^^xsd:string ; oboInOwl:hasExactSynonym "juvenile-onset Parkinson disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060893"^^xsd:string ; a owl:Class ; rdfs:label "juvenile-onset Parkinson's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0060894 obo:IAO_0000115 "A Parkinson's disease characterized by onset of motor symptoms early than typically seen, usually prior to 50 years of age."^^xsd:string ; oboInOwl:hasDbXref "ORDO:391411"^^xsd:string ; oboInOwl:hasExactSynonym "early-onset Parkinson disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060894"^^xsd:string ; a owl:Class ; rdfs:label "early-onset Parkinson's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_14330 . obo:DOID_0060895 obo:IAO_0000115 "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G20"^^xsd:string, "OMIM:605543"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Lewy body Parkinson disease 4"@en, "autosomal dominant Parkinson disease 4"@en, "autosomal dominant Parkinson's disease 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060895"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060896 obo:IAO_0000115 "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G20"^^xsd:string, "OMIM:616840"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 23"@en, "autosomal recessive early-onset Parkinson's disease 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060896"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 23"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060897 obo:IAO_0000115 "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614203"^^xsd:string ; oboInOwl:hasExactSynonym "Parkinson disease 17"@en, "autosomal dominant Parkinson disease 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060897"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 17"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0060898 obo:IAO_0000115 "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615530"^^xsd:string ; oboInOwl:hasExactSynonym "early-onset Parkinson disease 20"@en, "early-onset Parkinson's disease 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060898"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 20"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060894, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060900 obo:IAO_0000115 "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567844"^^xsd:string, "OMIM:612953"^^xsd:string ; oboInOwl:hasExactSynonym "Dystonia-Parkinsonism Adult-Onset"@en, "autosomal recessive Parkinson disease 14"@en, "autosomal recessive Parkinson's disease 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060900"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060901 obo:IAO_0000115 "A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein."^^xsd:string ; oboInOwl:hasDbXref "GARD:7872"^^xsd:string, "ICD10CM:C88.0"^^xsd:string, "ICD9CM:273.3"^^xsd:string, "MESH:D008258"^^xsd:string, "NCI:C115212"^^xsd:string, "NCI:C80307"^^xsd:string, "OMIM:153600"^^xsd:string, "OMIM:610430"^^xsd:string, "ORDO:33226"^^xsd:string, "SNOMEDCT_US_2021_03_01:35562000"^^xsd:string, "UMLS_CUI:C0024419"^^xsd:string, "UMLS_CUI:C2936755"^^xsd:string ; oboInOwl:hasExactSynonym "Waldenstrom Macroglobulinemia"^^xsd:string, "lymphoplasmacytic lymphoma with IgM gammopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060901"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Waldenstroem's macroglobulinemia"@en ; rdfs:subClassOf obo:DOID_0050747 ; skos:exactMatch "MESH:D008258"^^xsd:string . obo:DOID_0060902 obo:IAO_0000115 "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537848"^^xsd:string, "OMIM:257320"^^xsd:string, "ORDO:89844"^^xsd:string, "SNOMEDCT_US_2021_03_01:717977003"^^xsd:string, "UMLS_CUI:C0796089"^^xsd:string ; oboInOwl:hasExactSynonym "lissencephaly 2"@en, "lissencephaly syndrome, Norman-Roberts type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060902"^^xsd:string ; a owl:Class ; rdfs:label "Norman-Roberts syndrome"@en ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0060903 obo:IAO_0000115 "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013927"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060903"^^xsd:string ; a owl:Class ; rdfs:label "thrombosis"@en ; rdfs:subClassOf obo:DOID_178 . obo:DOID_0060904 obo:IAO_0000115 "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product."^^xsd:string ; oboInOwl:hasExactSynonym "Fabaceae allergy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060904"^^xsd:string ; a owl:Class ; rdfs:label "legume allergy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060503, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001264 ] . obo:DOID_0060911 obo:IAO_0000115 "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:11003"^^xsd:string, "ICD10CM:N11.8"^^xsd:string, "OMIM:614817"^^xsd:string, "ORDO:401996"^^xsd:string ; oboInOwl:hasExactSynonym "KIN"@en, "KMIN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0060911"^^xsd:string ; a owl:Class ; rdfs:label "karyomegalic interstitial nephritis"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1063, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070000 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617248"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type VIII, MGCA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070000"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070001 obo:IAO_0000115 "A disease of cellular proliferation that results in an abnormal mass of tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neoplastic disease"^^xsd:string ; owl:deprecated true . obo:DOID_0070002 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617698"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic acuduria type IX, MGCA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070002"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 9"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070003 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070003"^^xsd:string ; a owl:Class ; rdfs:label "blastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000055 ] ) ] . obo:DOID_0070004 obo:IAO_0000115 "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages."^^xsd:string ; oboInOwl:hasExactSynonym "myeloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070004"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "myeloid neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4960 . obo:DOID_0070005 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616777"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070005"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070006 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614728"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070006"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070007 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:210600"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL1"@en, "microcephalic primordial dwarfism I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070007"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070008 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617253"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070008"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070009 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615807"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070009"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070010 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613676"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070010"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070011 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614851"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070011"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070012 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613823"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070012"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070013 obo:IAO_0000115 "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606744"^^xsd:string ; oboInOwl:hasExactSynonym "SCKL2"@en, "Seckel-type dwarfism 2"@en, "microcephalic primordial dwarfism 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070013"^^xsd:string ; a owl:Class ; rdfs:label "Seckel syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050569 . obo:DOID_0070014 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:127550"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA1"@en, "Dyskeratosis Congenita, Scoggins Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070014"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070015 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA3 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224230"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070015"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070016 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613989"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070016"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070017 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613987"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070017"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070018 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TINF2 on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613990"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070018"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070019 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613988"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070019"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070020 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasExactSynonym "DKCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070020"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070021 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasExactSynonym "DKCB4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070021"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070022 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615190"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070022"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070023 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616553"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070023"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dyskeratosis congenita 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070024 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616353"^^xsd:string ; oboInOwl:hasExactSynonym "DKCB6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070024"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive dyskeratosis congenita 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070025 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305000"^^xsd:string ; oboInOwl:hasExactSynonym "DKCX"@en, "Zinsser-Cole-Engman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070025"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dyskeratosis congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070026 obo:IAO_0000115 "A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4695"^^xsd:string, "OMIM:268130"^^xsd:string ; oboInOwl:hasExactSynonym "DKCA5"@en, "Dyskeratosis Congenita, Autosomal Dominant 5"@en, "exudative retinopathy with bone marrow failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070026"^^xsd:string ; a owl:Class ; rdfs:label "Revesz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2729, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070027 obo:IAO_0000115 "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:105150"^^xsd:string ; oboInOwl:hasExactSynonym "Amyloidosis VI"@en, "Amyloidosis, Cerebroarterial, Icelandic Type"@en, "Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant"@en, "HCHWA"@en, "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070027"^^xsd:string ; a owl:Class ; rdfs:label "CST3-related cerebral amyloid angiopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070028 obo:IAO_0000115 "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605714"^^xsd:string ; oboInOwl:hasExactSynonym "Amyloidosis, Cerebroarterial, App-Related"@en, "Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Arctic Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Dutch Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Flemish Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Iowa Variant"@en, "Cerebral Amyloid Angiopathy, App-Related, Italian Variant"@en, "HCHWAD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070028"^^xsd:string ; a owl:Class ; rdfs:label "APP-related cerebral amyloid angiopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070029 obo:IAO_0000115 "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8344"^^xsd:string, "OMIM:176500"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral Amyloid Angiopathy, British Type"@en, "FBD"@en, "Familial British Dementia"@en, "Presenile Dementia with Spastic Ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070029"^^xsd:string ; a owl:Class ; rdfs:label "ITM2B-related cerebral amyloid angiopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070030 obo:IAO_0000115 "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:117300"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis"@en, "FDD"@en, "Familial Danish Dementia"@en, "HOOE"@en, "Heredopathia Ophthalmootoencephalica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070030"^^xsd:string ; a owl:Class ; rdfs:label "ITM2B-related cerebral amyloid angiopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9246, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070031 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MBD5 on chromosome 2q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:156200"^^xsd:string ; oboInOwl:hasExactSynonym "MRD1"@en, "autosomal dominant mental retardation 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070031"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070032 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DOCK8 on chromosome 9p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614113"^^xsd:string ; oboInOwl:hasExactSynonym "MRD2"@en, "autosomal dominant mental retardation 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070032"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070033 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612580"^^xsd:string ; oboInOwl:hasExactSynonym "MRD3"@en, "autosomal dominant mental retardation 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070033"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070034 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIRREL3 on chromosome 11q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612581"^^xsd:string ; oboInOwl:hasExactSynonym "MRD4"@en, "autosomal dominant mental retardation 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070034"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070035 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SYNGAP1 on chromosome 6p21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612621"^^xsd:string ; oboInOwl:hasExactSynonym "MRD5"@en, "autosomal dominant mental retardation 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070035"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070036 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613970"^^xsd:string ; oboInOwl:hasExactSynonym "MRD6"@en, "autosomal dominant mental retardation 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070036"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070037 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614104"^^xsd:string ; oboInOwl:hasExactSynonym "MRD7"@en, "autosomal dominant mental retardation 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070037"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070038 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614254"^^xsd:string ; oboInOwl:hasExactSynonym "MRD8"@en, "autosomal dominant mental retardation 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070038"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070039 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "NCI:C133742"^^xsd:string, "OMIM:614255"^^xsd:string, "UMLS_CUI:C3280283"^^xsd:string ; oboInOwl:hasExactSynonym "MRD9"@en, "NESCAVS"^^xsd:string, "autosomal dominant intellectual disability 9"^^xsd:string, "autosomal dominant mental retardation 9"@en, "autosomal dominant non-syndromic intellectual disability 9"^^xsd:string, "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070039"^^xsd:string ; a owl:Class ; rdfs:label "NESCAV syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070040 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CACNG2 on chromosome 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614256"^^xsd:string ; oboInOwl:hasExactSynonym "MRD10"@en, "autosomal dominant mental retardation 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070040"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070041 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614257"^^xsd:string ; oboInOwl:hasExactSynonym "MRD11"@en, "autosomal dominant mental retardation 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070041"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070042 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:135900"^^xsd:string ; oboInOwl:hasExactSynonym "CSS1"@en, "MRD12"@en, "autosomal dominant mental retardation 12"@en, "fifth digit syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070042"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070043 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614563"^^xsd:string ; oboInOwl:hasExactSynonym "MRD13"@en, "autosomal dominant mental retardation 13"@en, "mental retardation, autosomal dominant 13, with neuronal migration defects"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070043"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070044 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614607"^^xsd:string ; oboInOwl:hasExactSynonym "CSS2"@en, "MRD14"@en, "autosomal dominant mental retardation 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070044"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070045 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614608"^^xsd:string ; oboInOwl:hasExactSynonym "CSS3"@en, "MRD15"@en, "autosomal dominant mental retardation 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070045"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070046 obo:IAO_0000115 "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614609"^^xsd:string ; oboInOwl:hasExactSynonym "CSS4"@en, "MRD16"@en, "autosomal dominant mental retardation 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070046"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070047 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615009"^^xsd:string ; oboInOwl:hasExactSynonym "MRD17"@en, "SHMS"@en, "autosomal dominant mental retardation 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070047"^^xsd:string ; a owl:Class ; rdfs:label "Schuurs-Hoeijmakers Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070048 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615074"^^xsd:string ; oboInOwl:hasExactSynonym "MRD18"@en, "autosomal dominant mental retardation 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070048"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070049 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615075"^^xsd:string ; oboInOwl:hasExactSynonym "MRD19"@en, "autosomal dominant mental retardation 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070049"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070050 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613443"^^xsd:string ; oboInOwl:hasExactSynonym "MRD20"@en, "mental retardation, autosomal dominant 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070050"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070051 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTCF on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615502"^^xsd:string ; oboInOwl:hasExactSynonym "MRD21"@en, "autosomal dominant mental retardation 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070051"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070052 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ZBTB18 on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612337"^^xsd:string ; oboInOwl:hasExactSynonym "MRD22"@en, "autosomal dominant mental retardation 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070052"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070053 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETD5 on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615761"^^xsd:string ; oboInOwl:hasExactSynonym "MRD23"@en, "autosomal dominant mental retardation 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070053"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070054 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of DEAF1 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615828"^^xsd:string ; oboInOwl:hasExactSynonym "IDDISBAS"^^xsd:string, "MRD24"@en, "VSVS"^^xsd:string, "autosomal dominant mental retardation 24"@en, "autosomal dominant non-syndromic intellectual disability 24"^^xsd:string, "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070054"^^xsd:string ; a owl:Class ; rdfs:label "Vulto-van Silfout-de Vries syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070055 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:13409"^^xsd:string, "OMIM:615829"^^xsd:string ; oboInOwl:hasExactSynonym "MRD25"@en, "autosomal dominant mental retardation 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070055"^^xsd:string ; a owl:Class ; rdfs:label "Xia-Gibbs Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070056 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615834"^^xsd:string ; oboInOwl:hasExactSynonym "MRD26"@en, "autosomal dominant mental retardation 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070056"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070057 obo:IAO_0000115 "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615866"^^xsd:string ; oboInOwl:hasExactSynonym "MRD27"@en, "autosomal dominant mental retardation 27"@en, "autosomal dominant non-syndromic intellectual disability 27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070057"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0070058 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615873"^^xsd:string ; oboInOwl:hasExactSynonym "HVDAS"@en, "MRD28"@en, "autosomal dominant mental retardation 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070058"^^xsd:string ; a owl:Class ; rdfs:label "Helsmoortel-Van Der Aa Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070059 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616078"^^xsd:string ; oboInOwl:hasExactSynonym "MRD29"@en, "autosomal dominant mental retardation 29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070059"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070060 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ZMYND11 on chromosome 10p15.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616083"^^xsd:string ; oboInOwl:hasExactSynonym "MRD30"@en, "autosomal dominant mental retardation 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070060"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070061 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PURA on chromosome 5q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616158"^^xsd:string ; oboInOwl:hasExactSynonym "MRD31"@en, "autosomal dominant mental retardation 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070061"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070062 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KAT6A on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616268"^^xsd:string, "ORDO:457193"^^xsd:string ; oboInOwl:hasExactSynonym "ARTHS"^^xsd:string, "MRD32"@en, "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"^^xsd:string, "autosomal dominant mental retardation 32"@en, "autosomal dominant non-syndromic intellectual disability 32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070062"^^xsd:string ; a owl:Class ; rdfs:label "Arboleda-Tham syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070063 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DPP6 on chromosome 7q36.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616311"^^xsd:string ; oboInOwl:hasExactSynonym "MRD33"@en, "autosomal dominant mental retardation 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070063"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070064 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of COL4A3BP on chromosome 5q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616351"^^xsd:string ; oboInOwl:hasExactSynonym "MRD34"@en, "autosomal dominant mental retardation 34"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070064"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070065 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616355"^^xsd:string ; oboInOwl:hasExactSynonym "MRD35"@en, "autosomal dominant mental retardation 35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070065"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070066 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616362"^^xsd:string ; oboInOwl:hasExactSynonym "MRD36"@en, "autosomal dominant mental retardation 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070066"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070067 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of POGZ on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616364"^^xsd:string ; oboInOwl:hasExactSynonym "MRD37"@en, "WHSUS"@en, "autosomal dominant mental retardation 37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070067"^^xsd:string ; a owl:Class ; rdfs:label "White-Sutton syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070068 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616393"^^xsd:string ; oboInOwl:hasExactSynonym "MRD38"@en, "PRELDS"@en, "autosomal dominant mental retardation 38"@en, "psychomotor retardation, epilepsy, and language disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070068"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070069 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616521"^^xsd:string ; oboInOwl:hasExactSynonym "MRD39"@en, "autosomal dominant mental retardation 39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070069"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070070 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616579"^^xsd:string ; oboInOwl:hasExactSynonym "MRD40"@en, "autosomal dominant mental retardation 40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070070"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070071 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TBL1XR1 on chromosome 3q26.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616944"^^xsd:string ; oboInOwl:hasExactSynonym "MRD41"@en, "autosomal dominant mental retardation 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070071"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070072 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GNB1 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616973"^^xsd:string ; oboInOwl:hasExactSynonym "MRD42"@en, "autosomal dominant mental retardation 42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070072"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070073 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of HIVEP2 on chromosome 6q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616977"^^xsd:string ; oboInOwl:hasExactSynonym "MRD43"@en, "autosomal dominant mental retardation 43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070073"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070074 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TRIO on chromosome 5p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617061"^^xsd:string ; oboInOwl:hasExactSynonym "MRD44"@en, "autosomal dominant intellectual developmental disorder 44 with microcephaly"^^xsd:string, "autosomal dominant mental retardation 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070074"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant non-syndromic intellectual disability 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0070075 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070075"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Kleefstra Syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0070076 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 17q21.31 deletion syndrome"@en, "microdeletion 17q21.31 syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070076"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Koolen-De Vries syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0070077 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:181510"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070077"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070078 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603342"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070078"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070079 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD3 on chromosome 6p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600511"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070079"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070080 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of PRODH on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600850"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070080"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070081 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603175"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070081"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070082 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD6 on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603013"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070082"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070083 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD7 on chromosome 13q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603176"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070083"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070084 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD8 on chromosome 18p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603206"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070084"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070085 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation of DISC1 on chromosome 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604906"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070085"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070086 obo:IAO_0000115 "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD10 on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605419"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070086"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070087 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608078"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070087"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070088 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608543"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070088"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070089 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613025"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070089"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070090 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612361"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070090"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070091 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation of SHANK3 on chromosome 22q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613950"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070091"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070092 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613959"^^xsd:string ; oboInOwl:hasExactSynonym "SCZD16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070092"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070093 obo:IAO_0000115 "A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615232"^^xsd:string ; oboInOwl:hasExactSynonym "Chromosome 7q36.3 Duplication Syndrome, 362-Kb"@en, "SCZD18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070093"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070094 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203100"^^xsd:string ; oboInOwl:hasExactSynonym "OCA1A"@en, "Oculocutaneous Albinism, Tyrosinase-Negative"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070094"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070095 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606952"^^xsd:string ; oboInOwl:hasExactSynonym "Albinism, Yellow Mutant Type"@en, "OCA1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070095"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070096 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4038"^^xsd:string, "OMIM:203200"^^xsd:string ; oboInOwl:hasExactSynonym "OCA2"@en, "Oculocutaneous Albinism, Tyrosinase-Positive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070096"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070097 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of TYRP1 on chromosome 9p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:4039"^^xsd:string, "OMIM:203290"^^xsd:string ; oboInOwl:hasExactSynonym "OCA3"@en, "Rufous Oculocutaneous Albinism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070097"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070098 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606574"^^xsd:string ; oboInOwl:hasExactSynonym "OCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070098"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type IV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070099 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA5 on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615312"^^xsd:string ; oboInOwl:hasExactSynonym "OCA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070099"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070100 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615179"^^xsd:string ; oboInOwl:hasExactSynonym "OCA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070100"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type VII"^^xsd:string ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0070101 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of PTPN11 on chromosome 12q24.13."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070101"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 1"^^xsd:string ; owl:deprecated true . obo:DOID_0070102 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal recessive mutation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070102"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 2"^^xsd:string ; owl:deprecated true . obo:DOID_0070103 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of KRAS on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070103"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 3"^^xsd:string ; owl:deprecated true . obo:DOID_0070104 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS1 on chromosome 2p22.1."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 4"^^xsd:string ; owl:deprecated true . obo:DOID_0070105 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RAF1 on chromosome 3p25.2."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070105"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 5"^^xsd:string ; owl:deprecated true . obo:DOID_0070106 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of NRAS on chromosome 1p13.2."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070106"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 6"^^xsd:string ; owl:deprecated true . obo:DOID_0070107 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of BRAF on chromosome 7q34."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 7"^^xsd:string ; owl:deprecated true . obo:DOID_0070108 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of RIT1 on chromosome 1q22."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070108"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 8"^^xsd:string ; owl:deprecated true . obo:DOID_0070109 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of SOS2 on chromosome 14q21.3."^^xsd:string ; oboInOwl:hasExactSynonym "NS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070109"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 9"^^xsd:string ; owl:deprecated true . obo:DOID_0070110 obo:IAO_0000115 "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of LZTR1 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Noonan syndrome 10"^^xsd:string ; owl:deprecated true . obo:DOID_0070111 obo:IAO_0000115 "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:7206"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:257200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070111"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type A"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070112 obo:IAO_0000115 "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:10729"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:607616"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070112"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type B"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070113 obo:IAO_0000115 "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7207"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:257220"^^xsd:string ; oboInOwl:hasExactSynonym "NPC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070113"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type C1"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070114 obo:IAO_0000115 "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3992"^^xsd:string, "ICD10CM:E75.2"^^xsd:string, "OMIM:607625"^^xsd:string ; oboInOwl:hasExactSynonym "NPC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070114"^^xsd:string ; a owl:Class ; rdfs:label "Niemann-Pick disease type C2"^^xsd:string ; rdfs:subClassOf obo:DOID_14504, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070115 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:249000"^^xsd:string ; oboInOwl:hasExactSynonym "MKS1"@en, "Meckel-Gruber syndrome, type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070115"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070116 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:603194"^^xsd:string ; oboInOwl:hasExactSynonym "MKS2"@en, "Meckel-Gruber syndrome, type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070116"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070117 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:607361"^^xsd:string ; oboInOwl:hasExactSynonym "MKS3"@en, "Meckel-Gruber syndrome, type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070117"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070118 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:611134"^^xsd:string ; oboInOwl:hasExactSynonym "MKS4"@en, "Meckel-Gruber syndrome, type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070118"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070119 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:611561"^^xsd:string ; oboInOwl:hasExactSynonym "MKS5"@en, "Meckel-Gruber syndrome, type 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070119"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070120 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:612284"^^xsd:string ; oboInOwl:hasExactSynonym "MKS6"@en, "Meckel-Gruber syndrome, type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070120"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070121 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537756"^^xsd:string, "OMIM:267010"^^xsd:string, "ORDO:3032"^^xsd:string, "SNOMEDCT_US_2021_03_01:773737004"^^xsd:string, "UMLS_CUI:C2673885"^^xsd:string ; oboInOwl:hasExactSynonym "MKS7"@en, "Meckel-Gruber syndrome, type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070121"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070122 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q61.9"^^xsd:string, "OMIM:613885"^^xsd:string, "ORDO:90674"^^xsd:string ; oboInOwl:hasExactSynonym "MKS8"@en, "Meckel-Gruber syndrome, type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070122"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050778 . obo:DOID_0070123 obo:IAO_0000115 "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:275100"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG4"@en, "isolated thyrotropin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070123"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070124 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:218700"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG2"@en, "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070124"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070125 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:225250"^^xsd:string, "ORDO:90673"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070125"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070126 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:275200"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG1"@en, "TSH resistance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070126"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070127 obo:IAO_0000115 "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:609893"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070127"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070128 obo:IAO_0000115 "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:614450"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070128"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070129 obo:IAO_0000115 "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:617403"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070129"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IID"^^xsd:string ; rdfs:subClassOf obo:DOID_0070141 . obo:DOID_0070130 obo:IAO_0000115 "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:123700"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070130"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0070142 . obo:DOID_0070131 obo:IAO_0000115 "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:616603"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070131"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0070142 . obo:DOID_0070132 obo:IAO_0000115 "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:219150"^^xsd:string, "ORDO:35664"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL3A"@en, "De Barsy syndrome A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070132"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIIA"^^xsd:string ; rdfs:subClassOf obo:DOID_0070143 . obo:DOID_0070133 obo:IAO_0000115 "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:614437"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070133"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0070144 . obo:DOID_0070134 obo:IAO_0000115 "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:219200"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070134"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIA"^^xsd:string ; rdfs:subClassOf obo:DOID_0070141 . obo:DOID_0070135 obo:IAO_0000115 "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:219100"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070135"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0070144 . obo:DOID_0070136 obo:IAO_0000115 "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:614434"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070136"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0070142 . obo:DOID_0070137 obo:IAO_0000115 "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:612940"^^xsd:string, "ORDO:357064"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2, progeroid type"@en, "ARCL2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070137"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070138 obo:IAO_0000115 "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:614438"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL3B"@en, "De Barsy syndrome B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070138"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIIB"^^xsd:string ; rdfs:subClassOf obo:DOID_0070143 . obo:DOID_0070139 obo:IAO_0000115 "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567716"^^xsd:string, "OMIM:613177"^^xsd:string, "ORDO:221145"^^xsd:string, "SNOMEDCT_US_2021_03_01:784349004"^^xsd:string, "UMLS_CUI:C2750804"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL1C"@en, "autosomal recessive cutis laxa type 1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070139"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IC"^^xsd:string ; rdfs:subClassOf obo:DOID_0070144 . obo:DOID_0070140 obo:IAO_0000115 "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "OMIM:617402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070140"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type IIC"^^xsd:string ; rdfs:subClassOf obo:DOID_0070141 . obo:DOID_0070141 obo:IAO_0000115 "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "ORDO:357074"^^xsd:string ; oboInOwl:hasExactSynonym "ARCL2, Debre type"@en, "ARCL2, classic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070141"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type II classic type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070142 obo:IAO_0000115 "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.8"^^xsd:string, "ORDO:90348"^^xsd:string ; oboInOwl:hasExactSynonym "ADCL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070142"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant cutis laxa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070143 obo:IAO_0000115 "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract."^^xsd:string ; oboInOwl:hasDbXref "GARD:49"^^xsd:string, "MESH:C535990"^^xsd:string, "ORDO:2962"^^xsd:string, "SNOMEDCT_US_2021_03_01:238826008"^^xsd:string, "UMLS_CUI:C0268354"^^xsd:string ; oboInOwl:hasExactSynonym "De Barsy syndrome"@en, "cutis laxa-corneal clouding-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070143"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070144 obo:IAO_0000115 "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems."^^xsd:string ; oboInOwl:hasDbXref "GARD:8480"^^xsd:string, "MESH:C562628"^^xsd:string, "ORDO:90439"^^xsd:string, "SNOMEDCT_US_2021_03_01:254222002"^^xsd:string, "UMLS_CUI:C0268351"^^xsd:string, "UMLS_CUI:C0432336"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive cutis laxa type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070144"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive cutis laxa type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070145 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12328"^^xsd:string, "MESH:D000699"^^xsd:string, "MESH:D009477"^^xsd:string, "NCI:C156360"^^xsd:string, "OMIM:608654"^^xsd:string, "ORDO:608654"^^xsd:string, "SNOMEDCT_US_2021_03_01:128206006"^^xsd:string, "SNOMEDCT_US_2021_03_01:403605007"^^xsd:string, "UMLS_CUI:C0002768"^^xsd:string, "UMLS_CUI:C0020075"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN5"@en, "hereditary sensory and autonomic neuropathy type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070145"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070146 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3006"^^xsd:string, "MESH:D009477"^^xsd:string, "NCI:C118633"^^xsd:string, "OMIM:256800"^^xsd:string, "ORDO:642"^^xsd:string, "SNOMEDCT_US_2021_03_01:62985007"^^xsd:string, "UMLS_CUI:C0020074"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary sensory neuropathy type IV"@en, "insensitivity to pain, congenital, with anhidrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070147 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614213"^^xsd:string ; oboInOwl:hasExactSynonym "HSN2C"@en, "hereditary sensory neuropathy type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070147"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070148 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564296"^^xsd:string, "OMIM:608088"^^xsd:string, "ORDO:139564"^^xsd:string, "UMLS_CUI:C1842586"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN with cough and gastroesophageal reflux"@en, "hereditary sensory neuropathy type IB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070148"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0070149 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:12723"^^xsd:string, "ICD10CM:G60.8"^^xsd:string, "OMIM:615548"^^xsd:string, "ORDO:391397"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN7"@en, "hereditary sensory and autonomic neuropathy type VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070149"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070150 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613115"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN2B"@en, "hereditary sensory and autonomic neuropathy type IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070150"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070151 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.8"^^xsd:string, "OMIM:614653"^^xsd:string, "ORDO:314381"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN6"@en, "hereditary sensory and autonomic neuropathy type VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070151"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070152 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:162400"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN1A"@en, "hereditary sensory and autonomic neuropathy type IA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070152"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070153 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616488"^^xsd:string, "ORDO:478664"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN8"@en, "hereditary sensory and autonomic neuropathy type VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070153"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070154 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615632"^^xsd:string ; oboInOwl:hasExactSynonym "HSN1F"@en, "hereditary sensory neuropathy type IF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070154"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070155 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201300"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN2A"@en, "hereditary sensory and autonomic neuropathy type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070155"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070161, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070156 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613708"^^xsd:string ; oboInOwl:hasExactSynonym "HSN1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070156"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070157 obo:IAO_0000115 "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613640"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN1C"@en, "hereditary sensory and autonomic neuropathy type IC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070157"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070162, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070158 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:11927"^^xsd:string, "ICD10CM:G60.8"^^xsd:string, "OMIM:614116"^^xsd:string, "ORDO:456318"^^xsd:string ; oboInOwl:hasExactSynonym "HSN1E"@en, "hereditary sensory neuropathy type IE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070158"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070159 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070159"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory neuropathy X-linked"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070160 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070160"^^xsd:string ; a owl:Class ; rdfs:label "atypical hereditary sensory neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_0070161 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood."^^xsd:string ; oboInOwl:hasDbXref "GARD:3976"^^xsd:string, "MESH:D002607"^^xsd:string, "MESH:D009477"^^xsd:string, "ORDO:970"^^xsd:string, "SNOMEDCT_US_2021_03_01:30508001"^^xsd:string, "UMLS_CUI:C0020072"^^xsd:string, "UMLS_CUI:C0270914"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN2"@en, "hereditary sensory and autonomic neuropathy type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070161"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_0070162 obo:IAO_0000115 "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:6635"^^xsd:string, "MESH:D009477"^^xsd:string, "NCI:C170433"^^xsd:string, "ORDO:36386"^^xsd:string, "SNOMEDCT_US_2021_03_01:52647008"^^xsd:string, "UMLS_CUI:C0020071"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN1"@en, "hereditary sensory and autonomic neuropathy type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070162"^^xsd:string ; a owl:Class ; rdfs:label "hereditary sensory and autonomic neuropathy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_0070163 obo:IAO_0000115 "A male infertility characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617644"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070163"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070164 obo:IAO_0000115 "A male infertility characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108420"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070164"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070165 obo:IAO_0000115 "A male infertility characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617576"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070165"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070166 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617593"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070166"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070167 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000072660"^^xsd:string, "NCI:C158500"^^xsd:string, "OMIM:102530"^^xsd:string, "SNOMEDCT_US_2020_03_01:236818008"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070167"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070168 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606766"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070168"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070169 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613957"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070169"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070170 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617592"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070170"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070171 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615413"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070171"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070172 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616950"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070172"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070173 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567832"^^xsd:string, "OMIM:612997"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070173"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070174 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617214"^^xsd:string ; oboInOwl:hasExactSynonym "Male infertility due to oocyte activation failure"@en, "SPGF17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070174"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070175 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070175"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spermatogenic failure 9"^^xsd:string ; owl:deprecated true . obo:DOID_0070176 obo:IAO_0000115 "An azoospermia characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:270960"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070176"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070177 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617706"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070177"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070178 obo:IAO_0000115 "A male infertility characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614822"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF10"@en, "Spermatogenic failure with defective sperm annulus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070178"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070179 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615842"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070179"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070180 obo:IAO_0000115 "A male infertility characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615081"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070180"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070181 obo:IAO_0000115 "An azoospermia characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617707"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070181"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070182 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615841"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070182"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070183 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12385"^^xsd:string, "MESH:C562903"^^xsd:string, "OMIM:243060"^^xsd:string, "ORDO:137893"^^xsd:string, "SNOMEDCT_US_2020_03_01:236806004"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF5"@en, "infertility associated with multitailed spermatozoa and excessive DNA"@en, "macrocephalic sperm head syndrome"@en, "male infertility due to macrozoospermia"@en, "male infertility with large-headed, multiflagellar, polyploid spermatozoa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070183"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070184 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617187"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF16"@en, "acephalic spermatozoa syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070184"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070185 obo:IAO_0000115 "An azoospermia characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309120"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFX2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070185"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spermatogenic failure 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070186 obo:IAO_0000115 "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400042"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFY1"@en, "Y-linked Sertoli cell-only syndrome"@en, "type I Sertoli cell-only syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070186"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked spermatogenic failure 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050457, obo:DOID_0050738, obo:DOID_0060388, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0070187 obo:IAO_0000115 "A male infertility characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564030"^^xsd:string, "OMIM:415000"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFY2"@en, "nonobstructive Y-linked spermatogenic failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070187"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked spermatogenic failure 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050738, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0070188 obo:IAO_0000115 "A male infertility characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258150"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF1"@en, "oligochiasmatic infertility"@en, "oligosynaptic infertility"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070188"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111910 . obo:DOID_0070189 obo:IAO_0000115 "A Sertoli cell-only syndrome characterized by X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305700"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFX1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070189"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spermatogenic failure 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050457 . obo:DOID_0070190 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070190"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM merged into X-linked chronic granulomatous disease[LS]"^^xsd:string ; rdfs:label "obsolete autosomal dominant chronic granulomatous disease"^^xsd:string ; owl:deprecated true . obo:DOID_0070191 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233710"^^xsd:string ; oboInOwl:hasExactSynonym "CDG2"@en, "autosomal recessive chronic granulomatous disease 2"^^xsd:string, "chronic granulomatous disease due to deficiency of NCF-2"@en, "deficiency of NCF2"@en, "deficiency of p67-PHOX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070191"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-positive type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070192 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233700"^^xsd:string ; oboInOwl:hasExactSynonym "CDG1"@en, "autosomal recessive chronic granulomatous disease 1"^^xsd:string, "chronic granulomatous disease due to deficiency of NCF-1"@en, "deficiency of NCF1"@en, "deficiency of SOC2"@en, "deficiency of neutrophil cytosol factor 1"@en, "deficiency of p47-PHOX"@en, "deficiency of soluble oxidase component II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070192"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-positive type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070193 obo:IAO_0000115 "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233690"^^xsd:string ; oboInOwl:hasExactSynonym "CGD due to deficiency of the alpha subunit of cytochrome b"@en, "CYBA deficiency"@en, "autosomal recessive chronic granulomatous disease 4"^^xsd:string, "autosomal recessive cytochrome b-negative CGD"@en, "chronic granulomatous disease due to deficiency of CYBA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070193"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-negative"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070194 obo:IAO_0000115 "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613960"^^xsd:string ; oboInOwl:hasExactSynonym "CDG3"@en, "autosomal recessive chronic granulomatous disease 3"^^xsd:string, "autosomal recessive cytochrome b-positive CGD type III"@en, "chronic granulomatous disease due to NCF4 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070194"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive chronic granulomatous disease cytochrome b-positive type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070195 obo:IAO_0000115 "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070190"^^xsd:string ; oboInOwl:hasDbXref "OMIM:306400"^^xsd:string ; oboInOwl:hasExactSynonym "CDGX"@en, "X-linked chronic cytochrome b-negative granulomatous disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070195"^^xsd:string ; a owl:Class ; rdfs:label "X-linked chronic granulomatous disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070196 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal dominant inheritance, infantile onset and progressive disease development."^^xsd:string ; oboInOwl:hasDbXref "OMIM:160300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070196"^^xsd:string ; a owl:Class ; rdfs:label "infantile-onset distal myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0070197 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10769"^^xsd:string, "OMIM:160500"^^xsd:string, "ORDO:59135"^^xsd:string ; oboInOwl:hasExactSynonym "Distal myopathy type 1"@en, "Gowers disease"@en, "Laing distal myopathy"@en, "Laing early-onset distal myopathy"@en, "MPD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070197"^^xsd:string ; a owl:Class ; rdfs:label "distal myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11720, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070198 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood."^^xsd:string ; oboInOwl:hasDbXref "GARD:9676"^^xsd:string, "MESH:C537480"^^xsd:string, "OMIM:PS254130"^^xsd:string, "ORDO:45448"^^xsd:string ; oboInOwl:hasExactSynonym "Miyoshi myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070198"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_11720, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070199 obo:IAO_0000115 "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254130"^^xsd:string ; oboInOwl:hasExactSynonym "MMD1"@en, "Miyoshi myopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070199"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070198, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070200 obo:IAO_0000115 "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613318"^^xsd:string ; oboInOwl:hasExactSynonym "MMD2"@en, "Miyoshi myopathy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070200"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0070198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070201 obo:IAO_0000115 "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567645"^^xsd:string, "OMIM:613319"^^xsd:string ; oboInOwl:hasExactSynonym "MMD3"@en, "Miyoshi myopathy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070201"^^xsd:string ; a owl:Class ; rdfs:label "Miyoshi muscular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070198, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070202 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3126"^^xsd:string, "MESH:D052496"^^xsd:string, "NCI:C165527"^^xsd:string, "OMIM:151660"^^xsd:string, "ORDO:2348"^^xsd:string, "SNOMEDCT_US_2021_03_01:715439000"^^xsd:string, "UMLS_CUI:C1720860"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD2"@en, "familial lipodystrophy of limbs and lower trunk"@en, "familial partial lipodystrophy Dunnigan type"@en, "reverse partial lipodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070202"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070203 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615238"^^xsd:string, "ORDO:435651"^^xsd:string ; oboInOwl:hasExactSynonym "CIDEC-related FPLD"@en, "FPLD5"@en, "familial partial lipodystrophy associated with CIDEC mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070203"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070204 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "GARD:12600"^^xsd:string, "MESH:D052496"^^xsd:string, "OMIM:604367"^^xsd:string, "ORDO:79083"^^xsd:string, "UMLS_CUI:C1720861"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD3"@en, "PPARG-related FPLD"@en, "PPARG-related familial partial lipodystrophy"@en, "familial partial lipodystrophy associated with PPARG mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070204"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070205 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:12601"^^xsd:string, "OMIM:613877"^^xsd:string, "ORDO:280356"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD4"@en, "PLIN1-related FPLD"@en, "PLIN1-related familial partial lipodystrophy"@en, "familial partial lipodystrophy associated with PLIN1 mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070205"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070206 obo:IAO_0000115 "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615980"^^xsd:string, "ORDO:435660"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD6"@en, "LIPE-related FPLD"@en, "LIPE-related familial partial lipodystrophy"@en, "familial partial lipodystrophy associated with LIPE mutations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070206"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070207 obo:IAO_0000115 "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:12598"^^xsd:string, "MESH:D052496"^^xsd:string, "OMIM:608600"^^xsd:string, "ORDO:79084"^^xsd:string, "SNOMEDCT_US_2021_03_01:725035001"^^xsd:string, "UMLS_CUI:C1720859"^^xsd:string ; oboInOwl:hasExactSynonym "FPLD1"@en, "familial partial lipodystrophy Kobberling type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070207"^^xsd:string ; a owl:Class ; rdfs:label "familial partial lipodystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050440 . obo:DOID_0070208 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613480"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070208"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema IC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070209 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615907"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070209"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema ID"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070210 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:153100"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070210"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070211 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611944"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070211"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070212 obo:IAO_0000115 "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood."^^xsd:string ; oboInOwl:hasDbXref "GARD:7220"^^xsd:string, "ICD10CM:Q82.0"^^xsd:string, "MESH:D008209"^^xsd:string, "NCI:C48829"^^xsd:string, "ORDO:79452"^^xsd:string, "SNOMEDCT_US_2021_03_01:268355000"^^xsd:string, "UMLS_CUI:C1704423"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH1"@en, "Milroy disease"@en, "Nonne-Milroy lymphedema"@en, "PCL"@en, "congenital primary lymphedema"@en, "hereditary lymphedema type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070212"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580 . obo:DOID_0070213 obo:IAO_0000115 "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:3324"^^xsd:string, "ICD10CM:I89.0"^^xsd:string, "MESH:C562467"^^xsd:string, "OMIM:153200"^^xsd:string, "ORDO:90186"^^xsd:string, "SNOMEDCT_US_2021_03_01:234098006"^^xsd:string, "SNOMEDCT_US_2021_03_01:400040008"^^xsd:string, "UMLS_CUI:C0238261"^^xsd:string, "UMLS_CUI:C1704424"^^xsd:string ; oboInOwl:hasExactSynonym "LMPH2"@en, "Meige disease"@en, "Meige lymphedema"@en, "late-onset lymphedema"@en, "lymphedema preacox"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070213"^^xsd:string ; a owl:Class ; rdfs:label "hereditary lymphedema II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050580, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070214 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9932"^^xsd:string, "MESH:C538376"^^xsd:string, "OMIM:610021"^^xsd:string, "ORDO:165991"^^xsd:string, "UMLS_CUI:C1864902"^^xsd:string ; oboInOwl:hasExactSynonym "EIHI"@en, "HHF7"@en, "exercise-induced hyperinsulinemic hypoglycemia"@en, "exercise-induced hyperinsulinism"@en, "hyperinsulinism due to SLC16A1 deficiency"@en, "hyperinsulinism due to monocarboxylate transporter 1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070214"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070215 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "GARD:2819"^^xsd:string, "OMIM:609975"^^xsd:string, "ORDO:71212"^^xsd:string ; oboInOwl:hasExactSynonym "HHF4"@en, "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"@en, "hyperinsulinism due to SCHAD deficiency"@en, "hyperinsulinism due to glutamodehydrogenase deficiency"@en, "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070215"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070216 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2818"^^xsd:string, "OMIM:602485"^^xsd:string, "ORDO:79299"^^xsd:string ; oboInOwl:hasExactSynonym "HHF3"@en, "hyperinsulinemic hypoglycemia due to glucokinase deficiency"@en, "hyperinsulinism due to glucokinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070216"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070217 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:9931"^^xsd:string, "OMIM:606762"^^xsd:string, "ORDO:35878"^^xsd:string ; oboInOwl:hasExactSynonym "HHF6"@en, "HI/HA syndrome"@en, "hyperinsulinism-hyperammonemia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070217"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070218 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601820"^^xsd:string ; oboInOwl:hasExactSynonym "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"@en, "HHF2"@en, "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070218"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070219 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256450"^^xsd:string ; oboInOwl:hasExactSynonym "HHF1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070219"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070220 obo:IAO_0000115 "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609968"^^xsd:string, "ORDO:263458"^^xsd:string ; oboInOwl:hasExactSynonym "HHF5"@en, "hyperinsulinemic hypoglycemia due to INSR deficiency"@en, "hyperinsulinemic hypoglycemia due to insulin receptor deficiency"@en, "hyperinsulinism due to INSR deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070220"^^xsd:string ; a owl:Class ; rdfs:label "familial hyperinsulinemic hypoglycemia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_13317, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070221 obo:IAO_0000115 "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84453"^^xsd:string, "OMIM:PS211600"^^xsd:string, "ORDO:172"^^xsd:string, "SNOMEDCT_US_2021_03_01:74162007"^^xsd:string, "UMLS_CUI:C0268312"^^xsd:string ; oboInOwl:hasExactSynonym "PFIC; Byler disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070221"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1852 . obo:DOID_0070222 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1288"^^xsd:string, "MESH:C535934"^^xsd:string, "OMIM:601847"^^xsd:string, "ORDO:79304"^^xsd:string, "UMLS_CUI:C3489789"^^xsd:string ; oboInOwl:hasExactSynonym "BSEP deficiency"@en, "PFIC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070222"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070223 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:1289"^^xsd:string, "MESH:C535935"^^xsd:string, "OMIM:602347"^^xsd:string, "ORDO:79305"^^xsd:string, "UMLS_CUI:C1865643"^^xsd:string ; oboInOwl:hasExactSynonym "MDR3 deficiency"@en, "PFIC3"@en, "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070223"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070224 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615878"^^xsd:string, "ORDO:480483"^^xsd:string ; oboInOwl:hasExactSynonym "PFIC4"@en, "TJP2 deficit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070224"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070225 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617049"^^xsd:string, "ORDO:480476"^^xsd:string ; oboInOwl:hasExactSynonym "NR1H4 deficiency"@en, "PFIC5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070225"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070226 obo:IAO_0000115 "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9802"^^xsd:string, "MESH:C535933"^^xsd:string, "OMIM:211600"^^xsd:string, "ORDO:79306"^^xsd:string ; oboInOwl:hasExactSynonym "FIC1 deficiency"@en, "PFIC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070226"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial intrahepatic cholestasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070221, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070227 obo:IAO_0000115 "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery."^^xsd:string ; oboInOwl:hasDbXref "GARD:9804"^^xsd:string, "MESH:C535932"^^xsd:string, "ORDO:69665"^^xsd:string ; oboInOwl:hasExactSynonym "ICP"@en, "gravidic intrahepatic cholestasis"@en, "pregnancy related cholestasis"@en, "recurrent intrahepatic cholestasis of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070227"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic cholestasis of pregnancy"^^xsd:string ; rdfs:subClassOf obo:DOID_1852 . obo:DOID_0070228 obo:IAO_0000115 "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:147480"^^xsd:string ; oboInOwl:hasExactSynonym "ICP1"@en, "pregnancy related cholestasis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070228"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic cholestasis of pregnancy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070229 obo:IAO_0000115 "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614972"^^xsd:string ; oboInOwl:hasExactSynonym "ICP3"@en, "pregnancy related cholestasis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070229"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic cholestasis of pregnancy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070230 obo:IAO_0000115 "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction."^^xsd:string ; oboInOwl:hasDbXref "GARD:12185"^^xsd:string, "NCI:C84402"^^xsd:string, "OMIM:PS243300"^^xsd:string, "ORDO:65682"^^xsd:string, "SNOMEDCT_US_2020_03_01:31155007"^^xsd:string ; oboInOwl:hasExactSynonym "BRIC"@en, "Summerskill-Walshe-Tygstrup syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070230"^^xsd:string ; a owl:Class ; rdfs:label "benign recurrent intrahepatic cholestasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1852 . obo:DOID_0070231 obo:IAO_0000115 "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q."^^xsd:string ; oboInOwl:hasDbXref "GARD:10028"^^xsd:string, "OMIM:243300"^^xsd:string, "ORDO:99960"^^xsd:string ; oboInOwl:hasExactSynonym "BRIC type 1"@en, "BRIC1"@en, "Summerskill syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070231"^^xsd:string ; a owl:Class ; rdfs:label "benign recurrent intrahepatic cholestasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070230, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070232 obo:IAO_0000115 "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10029"^^xsd:string, "MESH:C535934"^^xsd:string, "OMIM:605479"^^xsd:string, "ORDO:99961"^^xsd:string ; oboInOwl:hasExactSynonym "BRIC type 2"@en, "BRIC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070232"^^xsd:string ; a owl:Class ; rdfs:label "benign recurrent intrahepatic cholestasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070230, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070233 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614816"^^xsd:string ; oboInOwl:hasExactSynonym "Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations"@en, "LDS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070233"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070234 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610168"^^xsd:string ; oboInOwl:hasExactSynonym "AAT3"@en, "LDS2"@en, "Marfan syndrome type II"@en, "familial throacic aortic aneurysm 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070234"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070235 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609192"^^xsd:string ; oboInOwl:hasExactSynonym "AAT5"@en, "Furlong syndrome"@en, "LDS1"@en, "familial throacic aortic aneurysm 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070235"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070236 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615582"^^xsd:string ; oboInOwl:hasExactSynonym "LDS5"@en, "RNHF"@en, "Reinhoff syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070236"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070237 obo:IAO_0000115 "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613795"^^xsd:string ; oboInOwl:hasExactSynonym "LDS1C"@en, "LDS3"@en, "Loeys-Dietz syndrome type 1C"@en, "Loeys-Dietz syndrome with osteoarthritis"@en, "aneurysms-osteoarthritis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070237"^^xsd:string ; a owl:Class ; rdfs:label "Loeys-Dietz syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050466 . obo:DOID_0070238 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607426"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D1"@en, "CoQ deficiency 1"@en, "CoQ10 deficiency, primary, 1"@en, "coenzyme Q deficiency 1"@en, "ubiquinone deficiency 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070238"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070239 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614651"^^xsd:string, "ORDO:254898"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D2"@en, "coenzyme Q10 deficiency, primary, 2"@en, "deafness-encephaloneuropathy-obesity-valvulopathy syndrome"@en, "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070239"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070240 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS2 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614652"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D3"@en, "coenzyme Q10 deficiency, primary, 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070240"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070241 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10294"^^xsd:string, "OMIM:612016"^^xsd:string, "ORDO:139485"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D4"@en, "SCAR9"@en, "coenzyme Q10 deficiency, primary, 4"@en, "spinocerebellar ataxia, autosomal recessive 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070241"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070242 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ9 on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614654"^^xsd:string, "ORDO:319678"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D5"@en, "coenzyme Q10 deficiency, primary, 5"@en, "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070242"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070243 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614650"^^xsd:string, "ORDO:280406"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D6"@en, "coenzyme Q10 deficiency, primary, 6"@en, "familial steroid-resistant nephrotic syndrome with sensorineural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070243"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070244 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ4 on chromosome 9q34.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616276"^^xsd:string, "ORDO:457185"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D7"@en, "COQ4-related neonatal encephalomyopathy"@en, "coenzyme Q10 deficiency, primary, 7"@en, "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070244"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070245 obo:IAO_0000115 "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ7 on chromosome 16p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616733"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D8"@en, "coenzyme Q10 deficiency, primary, 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070245"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0070246 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310300"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD1"@en, "EMD1"@en, "Emery-Dreifuss muscular dystrophy 1, X-linked"@en, "humeroperoneal neuromuscular disease"@en, "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures"@en, "scapuloperoneal syndrome, X-linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070246"^^xsd:string ; a owl:Class ; rdfs:label "X-linked Emery-Dreifuss muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070247 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:181350"^^xsd:string, "ORDO:264"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD2"@en, "EMD2"@en, "Emery-Dreifuss muscular dystrophy 2, autosomal dominant"@en, "Emery-Dreifuss muscular dystrophy, autosomal dominant"@en, "Hauptmann-Thannhauser muscular dystrophy"@en, "autosomal dominant limb-girdle muscular dystrophy type 1B"@en, "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant"@en, "scapuloilioperoneal atrophy with cardiopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070247"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070248 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of LMNA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616516"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD3"@en, "Emery-Dreifuss muscular dystrophy 3, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070248"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Emery-Dreifuss muscular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070249 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612998"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD4"@en, "Emery-Dreifuss muscular dystrophy 4 with variable features"@en, "Emery-Dreifuss muscular dystrophy 4, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070249"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070250 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612999"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD5"@en, "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070250"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070251 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of FHL1 on chromosome Xq26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300696"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD6"@en, "Emery-Dreifuss muscular dystrophy 6, X-linked"@en, "XMPMA"@en, "myopathy, X-linked, with postural muscle atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070251"^^xsd:string ; a owl:Class ; rdfs:label "X-linked Emery-Dreifuss muscular dystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0070252 obo:IAO_0000115 "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614302"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD7"@en, "Emery-Dreifuss muscular dystrophy 7, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070252"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11726, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070253 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:9828"^^xsd:string, "MESH:C535752"^^xsd:string, "OMIM:212066"^^xsd:string, "ORDO:79329"^^xsd:string, "SNOMEDCT_US_2021_03_01:724142005"^^xsd:string, "UMLS_CUI:C2931008"^^xsd:string ; oboInOwl:hasExactSynonym "Alkuraya syndrome"@en, "CDG IIa"@en, "CDG2A"@en, "CDGIIa"@en, "CDGS2"@en, "carbohydrate-deficient glycoprotein syndrome, type II"@en, "congenital disorder of glycosylation, type IIa"@en, "mental retardation, growth retardation, prominent columella, and open mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070253"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070254 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MOGS on chromosome 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10767"^^xsd:string, "MESH:C565264"^^xsd:string, "OMIM:606056"^^xsd:string, "ORDO:79330"^^xsd:string, "SNOMEDCT_US_2021_03_01:725028009"^^xsd:string, "UMLS_CUI:C1853736"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIb"@en, "CDG2B"@en, "CDGIIb"@en, "glucosidase I deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070254"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIb"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070255 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4634"^^xsd:string, "MESH:C535755"^^xsd:string, "NCI:C4690"^^xsd:string, "OMIM:266265"^^xsd:string, "ORDO:99843"^^xsd:string, "SNOMEDCT_US_2021_03_01:234583001"^^xsd:string, "UMLS_CUI:C0398739"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIc"@en, "CDG2C"@en, "CDGIIc"@en, "Rambam-Hasharon syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070255"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIc"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070256 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9841"^^xsd:string, "MESH:C535753"^^xsd:string, "OMIM:607091"^^xsd:string, "ORDO:79332"^^xsd:string, "SNOMEDCT_US_2021_03_01:725587007"^^xsd:string, "UMLS_CUI:C2931009"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IId"@en, "CDG2D"@en, "CDGIId"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070256"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IId"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070257 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9842"^^xsd:string, "MESH:C535754"^^xsd:string, "OMIM:608779"^^xsd:string, "ORDO:79333"^^xsd:string, "SNOMEDCT_US_2021_03_01:717773005"^^xsd:string, "UMLS_CUI:C2931010"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIe"@en, "CDG syndrome type IIe"@en, "CDG2E"@en, "CDGIIde"@en, "COG7-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070257"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIe"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070258 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15."^^xsd:string ; oboInOwl:hasDbXref "GARD:12409"^^xsd:string, "MESH:C567040"^^xsd:string, "OMIM:603585"^^xsd:string, "ORDO:238459"^^xsd:string, "SNOMEDCT_US_2021_03_01:723624008"^^xsd:string, "UMLS_CUI:C1970344"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIf"@en, "CDG2F"@en, "CDGIIdf"@en, "CMP-sialic acid transporter deficiency"@en, "Carbohydrate deficient glycoprotein syndrome type IIf"@en, "SLC35A1-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070258"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIf"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070259 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10226"^^xsd:string, "MESH:C535756"^^xsd:string, "OMIM:611209"^^xsd:string, "ORDO:263508"^^xsd:string, "SNOMEDCT_US_2021_03_01:718750004"^^xsd:string, "UMLS_CUI:C2931011"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIg"@en, "CDG2G"@en, "CDGII/COG1 cerebrocostomandibular-like syndrome"@en, "CDGIIg"@en, "Carbohydrate deficient glycoprotein syndrome type IIg"@en, "Congenital disorder of glycosylation type IIg"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070259"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIg"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070260 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12411"^^xsd:string, "MESH:C566987"^^xsd:string, "OMIM:611182"^^xsd:string, "ORDO:95428"^^xsd:string, "SNOMEDCT_US_2021_03_01:717774004"^^xsd:string, "UMLS_CUI:C1970021"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIh"@en, "CDG2H"@en, "CDGIIdh"@en, "COG8-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIh"@en, "Congenital disorder of glycosylation type 2h"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070260"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIh"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070261 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12348"^^xsd:string, "OMIM:613612"^^xsd:string, "ORDO:263487"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIi"@en, "CDG syndrome type IIi"@en, "CDG2I"@en, "CDGIIdi"@en, "COG5-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIi"@en, "Congenital disorder of glycosylation type 2i"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070261"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIi"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070262 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12412"^^xsd:string, "OMIM:613489"^^xsd:string, "ORDO:263501"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIj"@en, "CDG syndrome type IIj"@en, "CDG2J"@en, "CDGIIdj"@en, "COG4-CDG"@en, "Carbohydrate deficient glycoprotein syndrome type IIj"@en, "Congenital disorder of glycosylation type 2j"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070262"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIj"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070263 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:12413"^^xsd:string, "OMIM:614727"^^xsd:string, "ORDO:314667"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIk"@en, "CDG syndrome type IIk"@en, "CDG2K"@en, "CDGIIdk"@en, "Carbohydrate deficient glycoprotein syndrome type IIk"@en, "Congenital disorder of glycosylation type 2k"@en, "TMEM165-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070263"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIk"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070264 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10944"^^xsd:string, "OMIM:614576"^^xsd:string, "ORDO:464443"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIl"@en, "CDG syndrome type IIL"@en, "CDG2L"@en, "CDGIIdl"@en, "COG6-CGD"@en, "Congenital disorder of glycosylation type 2l"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070264"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIl"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070265 obo:IAO_0000115 "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080469"^^xsd:string ; oboInOwl:hasDbXref "GARD:12403"^^xsd:string, "OMIM:300896"^^xsd:string, "ORDO:356961"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital disorder of glycosylation type 2m"@en, "SLC35A2-CDG"@en, "congenital disorder of glycosylation type 2m"@en, "developmental and epileptic encephalopathy 22"^^xsd:string, "epileptic encephalopathy, early infantile, 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070265"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070266 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616721"^^xsd:string, "ORDO:468699"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIn"@en, "CDG syndrome type IIn"@en, "CDG2N"@en, "CDGIIdn"@en, "Carbohydrate deficient glycoprotein syndrome type IIn"@en, "Congenital disorder of glycosylation type 2n"@en, "SLC39A8-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070266"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIn"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070267 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616828"^^xsd:string, "ORDO:468684"^^xsd:string ; oboInOwl:hasExactSynonym "CCDC115-CDG"@en, "CDG IIo"@en, "CDG syndrome type IIo"@en, "CDG2O"@en, "CDGIIdo"@en, "Carbohydrate deficient glycoprotein syndrome type IIo"@en, "Congenital disorder of glycosylation type 2o"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070267"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIo"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070268 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616829"^^xsd:string, "ORDO:466703"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIp"@en, "CDG syndrome type IIp"@en, "CDG2P"@en, "CDGIIdp"@en, "Carbohydrate deficient glycoprotein syndrome type IIp"@en, "Congenital disorder of glycosylation type 2p"@en, "TMEM199-CDG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070268"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIp"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070269 obo:IAO_0000115 "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617395"^^xsd:string, "ORDO:435934"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIq"@en, "CDG2Q"@en, "CDGIIdq"@en, "COG2-CDG"@en, "COG2-related congenital disorder of glycosylation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070269"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation type IIq"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0070270 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613244"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070270"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_3883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0070271 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:120435"^^xsd:string ; oboInOwl:hasExactSynonym "FCC1"@en, "HNPCC1"@en, "familial nonpolyposis colon cancer type 1"@en, "hereditary nonpolyposis colorectal cancer type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070271"^^xsd:string ; a owl:Class ; rdfs:label "Lynch syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_3883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070272 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614350"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070272"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_3883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070273 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614331"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070273"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070274 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in mutations in the MLH1 gene on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609310"^^xsd:string ; oboInOwl:hasExactSynonym "COCA2"@en, "FCC2"@en, "HNPCC2"@en, "familial nonpolyposis colon cancer type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070274"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070275 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614337"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070275"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070276 obo:IAO_0000115 "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614385"^^xsd:string ; oboInOwl:hasExactSynonym "HNPCC7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070276"^^xsd:string ; a owl:Class ; rdfs:label "hereditary nonpolyposis colorectal cancer type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_3883 . obo:DOID_0070277 obo:IAO_0000115 "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616486"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH15"@en, "NEDMISBA"^^xsd:string, "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070277"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070278 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612703"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070278"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070279 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616402"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070279"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070280 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608716"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070280"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070281 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617800"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070281"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070282 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614673"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070282"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070283 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616051"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070283"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070284 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616080"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070284"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070285 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:251200"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070285"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070286 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604804"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070286"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070287 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615414"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070287"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070288 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617090"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070288"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070289 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616681"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070289"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070290 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608393"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070290"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070291 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604321"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070291"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070292 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614852"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070292"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070293 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604317"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070293"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 2 with or without cortical malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070294 obo:IAO_0000115 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615095"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070294"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0070296 . obo:DOID_0070295 obo:IAO_0000115 "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617520"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070295"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal dominant microcephaly 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070297, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070296 obo:IAO_0000115 "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation."^^xsd:string ; oboInOwl:hasDbXref "GARD:12117"^^xsd:string, "OMIM:PS251200"^^xsd:string, "ORDO:2512"^^xsd:string ; oboInOwl:hasExactSynonym "MCPH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070296"^^xsd:string ; a owl:Class ; rdfs:label "primary autosomal recessive microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070297, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070297 obo:IAO_0000115 "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation."^^xsd:string ; oboInOwl:hasExactSynonym "true microcephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070297"^^xsd:string ; a owl:Class ; rdfs:label "primary microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_10907 . obo:DOID_0070298 obo:IAO_0000115 "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600204"^^xsd:string ; oboInOwl:hasExactSynonym "EDM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070298"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070305, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070299 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9794"^^xsd:string, "MESH:C535505"^^xsd:string, "OMIM:607078"^^xsd:string, "ORDO:93311"^^xsd:string, "UMLS_CUI:C1846843"^^xsd:string ; oboInOwl:hasExactSynonym "BHMED"@en, "EDM5"@en, "bilateral hereditary microepiphyseal dysplasia"@en, "multiple epiphyseal dysplasia MATN3-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070299"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070300 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:9793"^^xsd:string, "MESH:C535504"^^xsd:string, "OMIM:226900"^^xsd:string, "ORDO:93307"^^xsd:string, "SNOMEDCT_US_2021_03_01:715672007"^^xsd:string, "UMLS_CUI:C1847593"^^xsd:string ; oboInOwl:hasExactSynonym "EDM4"@en, "MED4"@en, "Polyepiphyseal dysplasia type 4"@en, "multiple epiphyseal dysplasia with bilateral patellae"@en, "multiple epiphyseal dysplasia with clubfoot"@en, "rMED"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070300"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070301 obo:IAO_0000115 "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614135"^^xsd:string ; oboInOwl:hasExactSynonym "EDM6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070301"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070305, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070302 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617719"^^xsd:string ; oboInOwl:hasExactSynonym "EDM7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070302"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070303 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2180"^^xsd:string, "MESH:C535501"^^xsd:string, "OMIM:132400"^^xsd:string, "ORDO:93308"^^xsd:string, "UMLS_CUI:C1838280"^^xsd:string ; oboInOwl:hasExactSynonym "EDM1"@en, "MED1"@en, "multiple epiphyseal dysplasia COMP-related"@en, "polyepiphyseal dysplasia type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070303"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070304 obo:IAO_0000115 "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600969"^^xsd:string ; oboInOwl:hasExactSynonym "EDM3"@en, "multiple epiphyseal dysplasia 3 with or without myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070304"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070305, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070305 obo:IAO_0000115 "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3)."^^xsd:string ; oboInOwl:hasDbXref "ORDO:166002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070305"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia due to collagen 9 anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12721, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0070306 obo:IAO_0000115 "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies."^^xsd:string ; oboInOwl:hasExactSynonym "post cardiac syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070306"^^xsd:string ; a owl:Class ; rdfs:label "post-cardiac arrest syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070307 obo:IAO_0000115 "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564332"^^xsd:string, "OMIM:607812"^^xsd:string, "ORDO:50814"^^xsd:string, "SNOMEDCT_US_2021_03_01:725100001"^^xsd:string, "UMLS_CUI:C1843042"^^xsd:string ; oboInOwl:hasExactSynonym "Boyadjiev-Jabs Syndrome"@en, "cranio-lenticulo-sutural dysplasia, CLSD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070307"^^xsd:string ; a owl:Class ; rdfs:label "craniolenticulosutural dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070308 obo:IAO_0000115 "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "MESH:C535686"^^xsd:string, "OMIM:600332"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070308"^^xsd:string ; a owl:Class ; rdfs:label "rippling muscle disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_66 . obo:DOID_0070309 obo:IAO_0000115 "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004832"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070309"^^xsd:string ; a owl:Class ; rdfs:label "absence epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0070310 obo:IAO_0000115 "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity."^^xsd:string ; oboInOwl:hasExactSynonym "drug induced hearing loss"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070310"^^xsd:string ; a owl:Class ; rdfs:label "drug-induced hearing loss"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563 . obo:DOID_0070311 obo:IAO_0000115 "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility."^^xsd:string ; oboInOwl:hasExactSynonym "OAT"@en, "oligoasthenoteratospermia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070311"^^xsd:string ; a owl:Class ; rdfs:label "oligoasthenoteratozoospermia"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_0070312 obo:IAO_0000115 "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070312"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Peters-Plus Syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0070313 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by low levels of thiamine."^^xsd:string ; oboInOwl:hasDbXref "NCI:C34418"^^xsd:string, "SNOMEDCT_US_2020_03_01:399357009"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070313"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thiamine deficiency disease"@en ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_0070314 obo:IAO_0000115 "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2018_03_01:86249007"^^xsd:string ; oboInOwl:hasExactSynonym "CON"@en, "congenital obstructive nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070314"^^xsd:string ; a owl:Class ; rdfs:label "obstructive nephropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0070315 obo:IAO_0000115 "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "GARD:2922"^^xsd:string, "ICD10CM:Q22.6"^^xsd:string, "SNOMEDCT_US_2018_03_01:268180007"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070315"^^xsd:string ; a owl:Class ; rdfs:label "hypoplastic right heart syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1682 . obo:DOID_0070316 obo:IAO_0000115 "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13."^^xsd:string ; oboInOwl:created_by "apujar"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615923"^^xsd:string, "ORDO:329191"^^xsd:string ; oboInOwl:hasExactSynonym "ECDM"@en, "tall stature-scoliosis-macrodactyly of the great toes syndrome"@en, "tall stature-scoliosis-macrodactyly of the halluces syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070316"^^xsd:string ; a owl:Class ; rdfs:label "Miura type epiphyseal chondrodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070317 obo:IAO_0000115 "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath."^^xsd:string ; oboInOwl:hasDbXref "GARD:9948"^^xsd:string, "ICD10CM:E51.12"^^xsd:string, "SNOMEDCT_US_2020_03_01:67360000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070317"^^xsd:string ; a owl:Class ; rdfs:label "wet beriberi"@en ; rdfs:subClassOf obo:DOID_13725 . obo:DOID_0070318 obo:IAO_0000115 "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting."^^xsd:string ; oboInOwl:hasDbXref "GARD:9948"^^xsd:string, "ICD10CM:E51.11"^^xsd:string, "SNOMEDCT_US_2020_09_01:71021002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070318"^^xsd:string ; a owl:Class ; rdfs:label "dry beriberi"@en ; rdfs:subClassOf obo:DOID_13725, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_0070319 obo:IAO_0000115 "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2020_03_01:26988005"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070319"^^xsd:string ; a owl:Class ; rdfs:label "miliaria pustulosa"@en ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_0070320 obo:IAO_0000115 "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash."^^xsd:string ; oboInOwl:hasExactSynonym "ICD10CM:L74.2"@en, "SNOMEDCT_US_2020_03_01:47317002"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070320"^^xsd:string ; a owl:Class ; rdfs:label "miliaria profunda"@en ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_0070321 obo:IAO_0000115 "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.1"^^xsd:string, "SNOMEDCT_US_2020_09_01:44279002"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070321"^^xsd:string ; a owl:Class ; rdfs:label "miliaria crystallina"@en ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_0070322 obo:IAO_0000115 "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma."^^xsd:string ; oboInOwl:hasDbXref "GARD:9331"^^xsd:string, "NCI:C7955"^^xsd:string, "ORDO:33402"^^xsd:string ; oboInOwl:hasExactSynonym "childhood hepatocellular carcinoma"@en, "pediatric hepatocellular carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070322"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood hepatocellular carcinoma"@en ; rdfs:subClassOf obo:DOID_684, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070323 obo:IAO_0000115 "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."^^xsd:string ; oboInOwl:hasDbXref "ICDO:M9861/3"^^xsd:string, "NCI:C9160"^^xsd:string ; oboInOwl:hasExactSynonym "childhood acute myeloid leukaemia"@en, "paediatric acute myeloid leukaemia"@en, "pediatric acute myeloid leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070323"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood acute myeloid leukemia"@en ; rdfs:subClassOf obo:DOID_7757, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070324 obo:IAO_0000115 "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "ICDO:9724/3"^^xsd:string, "MESH:D008232"^^xsd:string, "NCI:C80374"^^xsd:string, "ORDO:364033"^^xsd:string, "SNOMEDCT_US_2019_09_01:450906003"^^xsd:string ; oboInOwl:hasExactSynonym "EBV-positive T-cell lymphoproliferative disorder of childhood"@en, "systemic EBV-positive T-cell lymphoma of childhood"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070324"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "systemic Epstein-Barr virus-positive T-cell lymphoma of childhood"@en ; rdfs:subClassOf obo:DOID_5823, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070325 obo:IAO_0000115 "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults."^^xsd:string ; oboInOwl:hasDbXref "GARD:9368"^^xsd:string, "NCI:C118822"^^xsd:string ; oboInOwl:hasExactSynonym "malignant pediatric adrenal gland pheochromocytoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070325"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant childhood adrenal gland pheochromocytoma"@en ; rdfs:subClassOf obo:DOID_0050892, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070326 obo:IAO_0000115 "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C136825"^^xsd:string ; oboInOwl:hasExactSynonym "atypical spitz nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070326"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spitzoid melanoma"@en ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_0070327 obo:IAO_0000115 "A skin melanoma that arises from a congenital melanocytic nevus."^^xsd:string ; oboInOwl:hasDbXref "GARD:2469"^^xsd:string, "ICDO:M8761/3"^^xsd:string, "NCI:C48613"^^xsd:string, "SNOMEDCT_US_2019_09_01:75931002"^^xsd:string ; oboInOwl:hasExactSynonym "Malignant melanoma in congenital melanocytic nevus"@en, "melanocytic nevi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070327"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanoma in congenital melanocytic nevus"@en ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_0070328 obo:IAO_0000115 "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7956"^^xsd:string, "ORDO:210159"^^xsd:string, "UMLS_CUI:C0279607"^^xsd:string ; oboInOwl:hasExactSynonym "adult hepatoma"@en, "adult primary hepatocellular carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult hepatocellular carcinoma"@en ; rdfs:subClassOf obo:DOID_684, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000798 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0070329 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:13643"^^xsd:string, "OMIM:PS603041"^^xsd:string, "ORDO:35698"^^xsd:string ; oboInOwl:hasExactSynonym "mtDNA depletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070329"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome"@en ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0070330 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment."^^xsd:string ; oboInOwl:hasDbXref "GARD:12632"^^xsd:string, "MESH:C565304"^^xsd:string, "OMIM:PS605711"^^xsd:string, "ORDO:289573"^^xsd:string ; oboInOwl:hasExactSynonym "fatal multiple mitochondrial dysfunction syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070330"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome"@en ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0070331 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536350"^^xsd:string, "OMIM:612075"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070331"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 8b"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002579 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004326 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0070332 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070332"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070333 obo:IAO_0000115 "A periperal T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070333"^^xsd:string ; a owl:Class ; rdfs:label "breast implant-associated anaplastic large cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050749 . obo:DOID_0070334 obo:IAO_0000115 "A food allergy triggered by a vegetable food product."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070334"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "vegetable allergy"@en ; rdfs:subClassOf obo:DOID_3044, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001261 ] . obo:DOID_0070335 obo:IAO_0000115 "A vegetable allergy triggered by celery (Apium graveolens)."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070335"^^xsd:string ; oboInOwl:inSubset doid:DO_IEDB_slim ; a owl:Class ; rdfs:label "celery allergy"@en ; rdfs:subClassOf obo:DOID_0070334, [ a owl:Restriction ; owl:onProperty obo:RO_0001022 ; owl:someValuesFrom obo:FOODON_00001705 ] . obo:DOID_0070337 obo:IAO_0000115 "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122400"^^xsd:string ; oboInOwl:hasExactSynonym "COL17A1"^^xsd:string, "ERED"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070337"^^xsd:string ; a owl:Class ; rdfs:label "epithelial recurrent erosion dystrophy"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070338 obo:IAO_0000115 "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed."^^xsd:string ; oboInOwl:hasDbXref "GARD:1194"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070338"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar hypoplasia"@en ; rdfs:subClassOf obo:DOID_2786 ; skos:exactMatch "MESH:C562568"^^xsd:string . obo:DOID_0070339 obo:IAO_0000115 "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."^^xsd:string ; oboInOwl:hasDbXref "OMIM:213000"^^xsd:string, "ORDO:2246"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070339"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070340 obo:IAO_0000115 "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:215700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070340"^^xsd:string ; a owl:Class ; rdfs:label "classic citrullinemia"@en ; rdfs:subClassOf obo:DOID_9273 . obo:DOID_0070341 obo:IAO_0000115 "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605814"^^xsd:string ; oboInOwl:hasExactSynonym "neonatal-onset type 2 citrullinemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070341"^^xsd:string ; a owl:Class ; rdfs:label "neonatal-onset type II citrullinemia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9273, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070342 obo:IAO_0000115 "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603471"^^xsd:string ; oboInOwl:hasExactSynonym "citrin deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070342"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset type II citrullinemia"@en ; rdfs:subClassOf obo:DOID_9273, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0070343 obo:IAO_0000115 "A neuroaxonal dystrophy that has_material_basis in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600329"^^xsd:string ; oboInOwl:hasExactSynonym "osteoporosis and infantile neuroaxonal dystrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070343"^^xsd:string ; a owl:Class ; rdfs:label "CSF1R-related brain malformation and osteopetrosis"@en ; rdfs:subClassOf obo:DOID_2367 . obo:DOID_0070344 obo:IAO_0000115 "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_sypmtom inflamed eyes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070344"^^xsd:string ; a owl:Class ; rdfs:label "ocular tuberculosis"@en ; rdfs:subClassOf obo:DOID_399, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_0070345 obo:IAO_0000115 "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618223"^^xsd:string ; oboInOwl:hasExactSynonym "heterozygotes for TBX2 variants"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070345"^^xsd:string ; a owl:Class ; rdfs:label "vertebral anomalies and variable endocrine and T-cell dysfunction"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070346 obo:IAO_0000115 "A syndrome that is characterized by common dysmorphic features including frontal bossing, small palebral fissures, widely spaced eyes, and has_symptom abnormal gait, hypotonia, and cataracts."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070346"^^xsd:string ; a owl:Class ; rdfs:label "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070347 obo:IAO_0000115 "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614388"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070347"^^xsd:string ; a owl:Class ; rdfs:label "encephalopathy due to defective mitochondrial and peroxisomal fission 1"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0070348 obo:IAO_0000115 "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS158600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070348"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominance"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070349 obo:IAO_0000115 "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070349"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominance 2A"@en ; rdfs:subClassOf obo:DOID_0070348, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0070350 obo:IAO_0000115 "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070350"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominante 2B"@en ; rdfs:subClassOf obo:DOID_0070348, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070351 obo:IAO_0000115 "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070351"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with lower extremity predominance 1"@en ; rdfs:subClassOf obo:DOID_0070348, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070352 obo:IAO_0000115 "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618170"^^xsd:string ; oboInOwl:hasExactSynonym "CONDSIAS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070352"^^xsd:string ; a owl:Class ; rdfs:label "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0070353 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612018"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070353"^^xsd:string ; a owl:Class ; rdfs:label "cataract 47"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0070354 obo:IAO_0000115 "A cataract that has_material_basis homozygous mutation in the DNMBP gene on chromosome 10q24 and is characteriaed by infantile or early-childhood cataracts and visual impairment."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618415"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070354"^^xsd:string ; a owl:Class ; rdfs:label "cataract 48"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070356 obo:IAO_0000115 "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005128"^^xsd:string, "OMIM:618283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070356"^^xsd:string ; a owl:Class ; rdfs:label "visual impairment and progressive phthisis bulbi"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0070357 obo:IAO_0000115 "A familial nephrotic syndrome that _has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301028"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0070357"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 20"@en ; rdfs:subClassOf obo:DOID_2590 . obo:DOID_0080000 obo:IAO_0000115 "A musculoskeletal system disease that affects the muscles."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080000"^^xsd:string ; a owl:Class ; rdfs:label "muscular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_17 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_0080001 obo:IAO_0000115 "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1290"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M89.9"^^xsd:string, "MESH:D001847"^^xsd:string, "SNOMEDCT_US_2021_03_01:76069003"^^xsd:string, "UMLS_CUI:C0005940"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "skeletal disease"@en ; oboInOwl:id "DOID:0080001"^^xsd:string ; a owl:Class ; rdfs:label "bone disease"^^xsd:string ; rdfs:subClassOf obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001474 ] ) ] . obo:DOID_0080005 obo:IAO_0000115 "A bone disease that results_in formation or resorption abnormalities located_in bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080005"^^xsd:string ; a owl:Class ; rdfs:label "bone remodeling disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001 . obo:DOID_0080006 obo:IAO_0000115 "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080006"^^xsd:string ; a owl:Class ; rdfs:label "bone development disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001 . obo:DOID_0080007 obo:IAO_0000115 "A bone structure disease that results_in change or damage of structure located_in bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080007"^^xsd:string ; a owl:Class ; rdfs:label "bone deterioration disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080010 . obo:DOID_0080008 obo:IAO_0000115 "A bone disease that results_in an interruption of blood supply located_in bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080008"^^xsd:string ; a owl:Class ; rdfs:label "ischemic bone disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080001 . obo:DOID_0080009 obo:IAO_0000115 "A X-linked monogenic disease that has_material_basis_in dominant inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080009"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dominant disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] ) ] . obo:DOID_0080010 obo:IAO_0000115 "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080010"^^xsd:string ; a owl:Class ; rdfs:label "bone structure disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080011 obo:IAO_0000115 "A bone remodeling disease that results in an abnormal decrease of bone density or mass."^^xsd:string ; oboInOwl:hasDbXref "MESH:D001862"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080011"^^xsd:string ; a owl:Class ; rdfs:label "bone resorption disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 . obo:DOID_0080012 obo:IAO_0000115 "A X-linked monogenic disease that has_material_basis_in recessive inheritance."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080012"^^xsd:string ; a owl:Class ; rdfs:label "X-linked recessive disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ) ] . obo:DOID_0080013 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080013"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mitochondrial disease"^^xsd:string ; owl:deprecated true . obo:DOID_0080014 obo:IAO_0000115 "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080014"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "chromosomal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_630 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000183 ] ) ] . obo:DOID_0080015 obo:IAO_0000115 "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment."^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080015"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "physical disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_4 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ) ] . obo:DOID_0080016 obo:IAO_0000115 "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development."^^xsd:string ; oboInOwl:hasDbXref "GARD:7673"^^xsd:string, "ICD10CM:Q05"^^xsd:string, "ICD9CM:741"^^xsd:string, "MESH:D016135"^^xsd:string, "NCI:C101214"^^xsd:string, "SNOMEDCT_US_2021_03_01:156888006"^^xsd:string, "UMLS_CUI:C0080178"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080016"^^xsd:string ; a owl:Class ; rdfs:label "spina bifida"^^xsd:string ; rdfs:subClassOf obo:DOID_0080074 ; skos:exactMatch "MESH:D016135"^^xsd:string, "NCI:C101214"^^xsd:string . obo:DOID_0080017 oboInOwl:hasExactSynonym "OPCA type 5"@en, "OPCA with dementia and extrapyramidal signs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080017"^^xsd:string ; a owl:Class ; rdfs:label "obsolete olivopontocerebellar atrophy V"^^xsd:string ; owl:deprecated true . obo:DOID_0080018 obo:IAO_0000115 "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone."^^xsd:string ; oboInOwl:hasExactSynonym "Caisson disease of bone"@en, "DON"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080018"^^xsd:string ; a owl:Class ; rdfs:label "dysbaric osteonecrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080008 . obo:DOID_0080019 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone."^^xsd:string ; oboInOwl:hasDbXref "OMIM:215050"^^xsd:string ; oboInOwl:hasExactSynonym "Bakwin-Krida syndrome"@en, "Pyle's disease"@en, "Pyle-Cohn syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080019"^^xsd:string ; a owl:Class ; rdfs:label "metaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0080020 obo:IAO_0000115 "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism."^^xsd:string ; oboInOwl:hasDbXref "OMIM:156400"^^xsd:string ; oboInOwl:hasExactSynonym "Jansen Disease"@en, "Jansen Metaphyseal Dysostosis"@en, "Jansen metaphyseal chondrodysplasia"@en, "Murk Jansen Type Metaphyseal Chondrodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080020"^^xsd:string ; a owl:Class ; rdfs:label "Jansen's metaphyseal chondrodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080019, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0008873 ] . obo:DOID_0080021 obo:IAO_0000115 "A metaphyseal dysplasia that results_in dwarfism and bowed legs."^^xsd:string ; oboInOwl:hasDbXref "GARD:7029"^^xsd:string, "OMIM:156500"^^xsd:string ; oboInOwl:hasExactSynonym "Japanese type spondylometaphyseal dysplasia"@en, "Schmid type metaphyseal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080021"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Schmid metaphyseal chondrodysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080019, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ] . obo:DOID_0080022 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080022"^^xsd:string ; a owl:Class ; rdfs:label "obsolete McKusick type metaphyseal dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_0080023 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080023"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Shwachman-Diamond type metaphyseal dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_0080024 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080024"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pyles dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_0080026 obo:IAO_0000115 "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss."^^xsd:string ; oboInOwl:hasDbXref "OMIM:215150"^^xsd:string ; oboInOwl:hasExactSynonym "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS"@en, "NANCE-INSLEY SYNDROME"@en, "NANCE-SWEENEY CHONDRODYSPLASIA"@en, "OSMEDB"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080026"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "otospondylomegaepiphyseal dysplasia, autosomal recessive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000926 ] . obo:DOID_0080027 obo:IAO_0000115 "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080027"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080028 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:184250"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080028"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "spondyloepimetaphyseal dysplasia, Strudwick type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000768 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000926 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001762 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002812 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003307 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000568 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080029 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615768"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080029"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080030 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080030"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "spondyloepimetaphyseal dysplasia, Missouri type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002970 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004566 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080031 obo:IAO_0000115 "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue."^^xsd:string ; oboInOwl:hasDbXref "GARD:6444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080031"^^xsd:string ; a owl:Class ; rdfs:label "fibrous dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 . obo:DOID_0080032 obo:IAO_0000115 "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal."^^xsd:string ; oboInOwl:hasDbXref "GARD:1567"^^xsd:string, "MESH:C562940"^^xsd:string, "OMIM:218300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080032"^^xsd:string ; a owl:Class ; rdfs:label "craniodiaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] ; skos:exactMatch "MESH:C562940"^^xsd:string . obo:DOID_0080033 obo:IAO_0000115 "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS123000"^^xsd:string, "ORDO:1522"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080033"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "craniometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_0080034 obo:IAO_0000115 "A hyperostosis of endosteal bone."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080034"^^xsd:string ; a owl:Class ; rdfs:label "obsolete endosteal hyperostosis"^^xsd:string ; owl:deprecated true . obo:DOID_0080036 obo:IAO_0000115 "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080035"^^xsd:string ; oboInOwl:hasDbXref "OMIM:239100"^^xsd:string, "ORDO:3152"^^xsd:string ; oboInOwl:hasExactSynonym "van Buchem disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080036"^^xsd:string ; a owl:Class ; rdfs:label "SOST-related sclerosing bone dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_205, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001548 ] . obo:DOID_0080037 obo:IAO_0000115 "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0111372"^^xsd:string ; oboInOwl:hasDbXref "GARD:390"^^xsd:string, "MESH:C536748"^^xsd:string, "OMIM:144750"^^xsd:string, "ORDO:2790"^^xsd:string, "SNOMEDCT_US_2021_03_01:254131007"^^xsd:string, "UMLS_CUI:C0432273"^^xsd:string ; oboInOwl:hasExactSynonym "Worth's syndrome"@en, "autosomal dominant endosteal hyperostosis"@en, "autosomal dominant osteosclerosis"@en, "benign form of Worth hyperostosis corticalis generalisata with torus platinus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080037"^^xsd:string ; a owl:Class ; rdfs:label "Worth syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_205, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_0080038 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges."^^xsd:string ; oboInOwl:hasDbXref "GARD:4611"^^xsd:string, "MESH:D058631"^^xsd:string, "OMIM:265800"^^xsd:string, "ORDO:763"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080038"^^xsd:string ; a owl:Class ; rdfs:label "pycnodysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ] . obo:DOID_0080039 obo:IAO_0000115 "An osteosclerosis that results_in coarsening located_in trabecular bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:8431"^^xsd:string, "OMIM:109130"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080039"^^xsd:string ; a owl:Class ; rdfs:label "axial osteomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_0080040 obo:IAO_0000115 "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures."^^xsd:string ; oboInOwl:hasExactSynonym "Baker's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080040"^^xsd:string ; a owl:Class ; rdfs:label "fibrogenesis imperfecta ossium"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080041 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism."^^xsd:string ; oboInOwl:hasDbXref "GARD:6724"^^xsd:string, "ICD10CM:Q77.4"^^xsd:string, "MESH:C562937"^^xsd:string, "NCI:C118697"^^xsd:string, "OMIM:146000"^^xsd:string, "ORDO:429"^^xsd:string, "SNOMEDCT_US_2021_03_01:205468002"^^xsd:string, "UMLS_CUI:C0410529"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080041"^^xsd:string ; a owl:Class ; rdfs:label "hypochondroplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080042 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616204"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080042"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080043 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period."^^xsd:string ; oboInOwl:hasDbXref "GARD:2882"^^xsd:string, "OMIM:PS200600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080043"^^xsd:string ; a owl:Class ; rdfs:label "achondrogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000774 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ] . obo:DOID_0080044 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563007"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080044"^^xsd:string ; a owl:Class ; rdfs:label "hypochondrogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0060564, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001789 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080045 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face."^^xsd:string ; oboInOwl:hasDbXref "GARD:6841"^^xsd:string, "MESH:C537207"^^xsd:string, "OMIM:156550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080045"^^xsd:string ; a owl:Class ; rdfs:label "Kniest dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000272 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003510 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003521 ] . obo:DOID_0080046 obo:IAO_0000115 "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems."^^xsd:string ; oboInOwl:hasDbXref "GARD:10782"^^xsd:string, "OMIM:PS108300"^^xsd:string, "ORDO:828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080046"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Stickler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080047 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14800"^^xsd:string ; oboInOwl:hasDbXref "GARD:4540"^^xsd:string, "MESH:C535819"^^xsd:string, "OMIM:177170"^^xsd:string ; oboInOwl:hasExactSynonym "PSEUDOACHONDROPLASIA"@en, "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC"@en, "pseudoachondroplastic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080047"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pseudoachondroplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080048 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080048"^^xsd:string ; a owl:Class ; rdfs:label "obsolete trichorhinophalangeal syndrome I"^^xsd:string ; owl:deprecated true . obo:DOID_0080049 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb dwarfism."^^xsd:string ; oboInOwl:hasDbXref "GARD:6"^^xsd:string, "ORDO:93437"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080049"^^xsd:string ; a owl:Class ; rdfs:label "acromesomelic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0080050 obo:IAO_0000115 "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535661"^^xsd:string, "OMIM:602875"^^xsd:string, "ORDO:40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080050"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acromesomelic dysplasia, Maroteaux type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080049, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002101 ] . obo:DOID_0080051 obo:IAO_0000115 "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201250"^^xsd:string, "ORDO:968"^^xsd:string ; oboInOwl:hasExactSynonym "acromesomelic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080051"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acromesomelic dysplasia, Hunter-Thompson type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080049, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080052 obo:IAO_0000115 "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones."^^xsd:string ; oboInOwl:hasDbXref "OMIM:200700"^^xsd:string, "ORDO:2098"^^xsd:string ; oboInOwl:hasExactSynonym "grebe chondrodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080052"^^xsd:string ; a owl:Class ; rdfs:label "acromesomelic dysplasia, Grebe type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080049, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080053 obo:IAO_0000115 "An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face."^^xsd:string ; oboInOwl:hasDbXref "GARD:5770"^^xsd:string, "MESH:C537045"^^xsd:string, "OMIM:103580"^^xsd:string ; oboInOwl:hasExactSynonym "Albright hereditary osteodystrophy"@en, "pseudohypoparathyroidism type 1a"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080053"^^xsd:string ; a owl:Class ; rdfs:label "Albright's hereditary osteodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_4184, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000568 ] . obo:DOID_0080054 obo:IAO_0000115 "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine."^^xsd:string ; oboInOwl:hasDbXref "GARD:459"^^xsd:string, "OMIM:200600"^^xsd:string ; oboInOwl:hasExactSynonym "achondrogenesis Houston-Harris type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080054"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "achondrogenesis type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080043, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080055 obo:IAO_0000115 "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen."^^xsd:string ; oboInOwl:hasDbXref "GARD:460"^^xsd:string, "OMIM:600972"^^xsd:string ; oboInOwl:hasExactSynonym "achondrogenesis Fraccaro type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080055"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "achondrogenesis type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080043, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080056 obo:IAO_0000115 "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis."^^xsd:string ; oboInOwl:hasDbXref "GARD:8713"^^xsd:string, "OMIM:200610"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080056"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "achondrogenesis type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060564, obo:DOID_0080043, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080057 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615705"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080057"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080058 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:615386"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080058"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080059 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12232"^^xsd:string, "OMIM:609270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080059"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080060 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614322"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080060"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080061 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:213200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080061"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080062 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080062"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080063 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080063"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080064 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616127"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080064"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080065 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616291"^^xsd:string ; oboInOwl:hasExactSynonym "Lichtenstein-Knorr syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080065"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080066 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-07T14:55:44Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616354"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080066"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080067 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T16:55:50Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:600361"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy with pyramidal features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080067"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10595, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080068 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T16:55:50Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:601152"^^xsd:string, "OMIM:616505"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080068"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0080069 obo:IAO_0000115 "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T16:55:50Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080069"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10595 . obo:DOID_0080070 obo:IAO_0000115 "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T17:58:48Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:6749"^^xsd:string, "OMIM:252500"^^xsd:string ; oboInOwl:hasExactSynonym "I-cell disease"@en, "inclusion-cell disease"^^xsd:string, "mucolipidosis II"@en, "mucolipidosis II alpha/beta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080070"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis II alpha/beta"^^xsd:string ; rdfs:subClassOf obo:DOID_0080488 . obo:DOID_0080071 obo:IAO_0000115 "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-08T17:58:48Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:252600"^^xsd:string, "ORDO:577"^^xsd:string ; oboInOwl:hasExactSynonym "mucolipidosis III"@en, "pseudo-Hurler polydystrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080071"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis III alpha/beta"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080488, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080072 obo:IAO_0000115 "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:28:30Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3878"^^xsd:string ; oboInOwl:hasDbXref "GARD:12744"^^xsd:string, "GARD:6789"^^xsd:string, "MESH:D007418"^^xsd:string, "NCI:C34733"^^xsd:string, "ORDO:2978"^^xsd:string, "SNOMEDCT_US_2021_03_01:715201005"^^xsd:string, "UMLS_CUI:C0021847"^^xsd:string ; oboInOwl:hasExactSynonym "Chronic intestinal pseudo-obstruction"^^xsd:string, "neuronal intestinal dysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080072"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal pseudo-obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_5353 . obo:DOID_0080073 obo:IAO_0000115 "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:35:47Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:D016136"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080073"^^xsd:string ; a owl:Class ; rdfs:label "spina bifida occulta"^^xsd:string ; rdfs:subClassOf obo:DOID_0080016 . obo:DOID_0080074 obo:IAO_0000115 "A physical disorder characterized by incomplete closure of the neural tube."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:41:42Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:4016"^^xsd:string, "OMIM:301410"^^xsd:string, "OMIM:601634"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080074"^^xsd:string ; a owl:Class ; rdfs:label "neural tube defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080075 obo:IAO_0000115 "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:47:01Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:616038"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080075"^^xsd:string ; a owl:Class ; rdfs:label "Neu-Laxova syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080076 obo:IAO_0000115 "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:47:35Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:256520"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080076"^^xsd:string ; a owl:Class ; rdfs:label "Neu-Laxova syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050721, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080077 obo:IAO_0000115 "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:52:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567363"^^xsd:string, "OMIM:612286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080077"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080078 obo:IAO_0000115 "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-10-19T14:52:42Z"^^xsd:string ; oboInOwl:hasDbXref "MESH:C567362"^^xsd:string, "OMIM:612287"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080078"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080079 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:13:08Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080088"^^xsd:string ; oboInOwl:hasDbXref "OMIM:161050"^^xsd:string, "ORDO:280654"^^xsd:string, "ORDO:79153"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic congenital nail disorder 10"^^xsd:string, "twenty-nail dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080079"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080080 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:149300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080080"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080081 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:151600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080081"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080082 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050643"^^xsd:string ; oboInOwl:hasDbXref "GARD:12930"^^xsd:string, "MESH:C536377"^^xsd:string, "OMIM:206800"^^xsd:string ; oboInOwl:hasExactSynonym "HYPONYCHIA CONGENITA"@en, "anonychia congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080082"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080083 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:164800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080083"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080084 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:107000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080084"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080085 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:605779"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080085"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080086 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:607523"^^xsd:string ; oboInOwl:hasExactSynonym "isolated toenail dystrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080086"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0001705 obo:UBERON_0002387 ) ] ] . obo:DOID_0080087 obo:IAO_0000115 "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:614149"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080087"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080683, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080088 oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-09T15:18:20Z"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080088"^^xsd:string ; a owl:Class ; rdfs:comment "merged into type 1. [LS]"^^xsd:string ; rdfs:label "obsolete nonsyndromic congenital nail disorder 10"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0080089 obo:IAO_0000115 "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:53:39Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:3884"^^xsd:string, "OMIM:160565"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080089"^^xsd:string ; a owl:Class ; rdfs:label "tubular aggregate myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:narrowMatch "ORDO:2593"^^xsd:string . obo:DOID_0080090 obo:IAO_0000115 "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:54:50Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:12162"^^xsd:string, "OMIM:300717"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080090"^^xsd:string ; a owl:Class ; rdfs:label "reducing body myopathy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080091 obo:IAO_0000115 "A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:57:47Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:8711"^^xsd:string, "OMIM:182920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080091"^^xsd:string ; a owl:Class ; rdfs:label "spheroid body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080092 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110286"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:601419"^^xsd:string, "ORDO:363543"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy type 2R"@en, "desminopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080092"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "myofibrillar myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080093 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:608810"^^xsd:string, "ORDO:399058"^^xsd:string ; oboInOwl:hasExactSynonym "alpha-b crystallinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080093"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080094 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the TTID gene on chromosome 5q31."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110300"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:609200"^^xsd:string, "ORDO:266"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant limb-girdle muscular dystrophy type 1A"@en, "myotilinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080094"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080095 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609452"^^xsd:string ; oboInOwl:hasExactSynonym "zaspopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080095"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080096 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:609524"^^xsd:string ; oboInOwl:hasExactSynonym "filaminopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080096"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080097 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612954"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "BAG3-related myofibrillar myopathy"@en ; oboInOwl:id "DOID:0080097"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080098 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T16:59:22Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:617114"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080098"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080099 obo:IAO_0000115 "A mitochondrial myopathy that is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:17:42Z"^^xsd:string ; oboInOwl:hasDbXref "ORDO:2598"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080099"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_699 . obo:DOID_0080100 obo:IAO_0000115 "A myopathy that is characterized by the lack of muscle tone or floppiness at birth."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:25:05Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:255300"^^xsd:string ; oboInOwl:hasExactSynonym "Batten Turner congenital myopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080100"^^xsd:string ; a owl:Class ; rdfs:label "congenital myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080101 obo:IAO_0000115 "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:27:15Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612540"^^xsd:string, "ORDO:210163"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080101"^^xsd:string ; a owl:Class ; rdfs:label "Compton-North congenital myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080102 obo:IAO_0000115 "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:27:15Z"^^xsd:string ; oboInOwl:hasDbXref "OMIM:255310"^^xsd:string ; oboInOwl:hasExactSynonym "CFTD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080102"^^xsd:string ; a owl:Class ; rdfs:label "congenital fiber-type disproportion"^^xsd:string ; rdfs:subClassOf obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080103 obo:IAO_0000115 "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions."^^xsd:string ; oboInOwl:created_by "lschriml"^^xsd:string ; oboInOwl:creation_date "2015-11-10T17:27:15Z"^^xsd:string ; oboInOwl:hasDbXref "GARD:11906"^^xsd:string, "OMIM:160990"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080103"^^xsd:string ; a owl:Class ; rdfs:label "cylindrical spirals myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080105 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:251270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080105"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly and chorioretinopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080106 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616171"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080106"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly and chorioretinopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080107 obo:IAO_0000115 "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616335"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080107"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly and chorioretinopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080108 obo:IAO_0000115 "A myopathy that is characterized by an increased urinary excretion of myoglobin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D009212"^^xsd:string, "OMIM:160010"^^xsd:string, "OMIM:268200"^^xsd:string, "OMIM:550500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080108"^^xsd:string ; a owl:Class ; rdfs:label "myoglobinuria"@en ; rdfs:subClassOf obo:DOID_423 . obo:DOID_0080109 obo:IAO_0000115 "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:2998"^^xsd:string, "OMIM:228550"^^xsd:string, "OMIM:615293"^^xsd:string, "ORDO:2591"^^xsd:string ; oboInOwl:hasExactSynonym "lipofibromatosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080109"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "infantile myofibromatosis"@en ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_0080110 obo:IAO_0000115 "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537377"^^xsd:string, "OMIM:178110"^^xsd:string, "OMIM:253290"^^xsd:string, "OMIM:265000"^^xsd:string, "OMIM:312150"^^xsd:string, "OMIM:PS178110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080110"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "multiple pterygium syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0080111 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:124000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080111"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 1"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080112 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615158"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080112"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 3"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080113 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615159"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080113"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 4"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080114 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080114"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 5"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080115 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615453"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080115"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 6"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080116 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615824"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080116"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 7"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080117 obo:IAO_0000115 "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615838"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080117"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 8"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080118 obo:IAO_0000115 "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080118"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency nuclear type 9"@en ; rdfs:subClassOf obo:DOID_0111139, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0080119 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9920"^^xsd:string, "MESH:C536350"^^xsd:string, "NCI:C11967"^^xsd:string, "OMIM:603041"^^xsd:string, "ORDO:298"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 1 (MNGIE type)"@en, "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080120 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563698"^^xsd:string, "OMIM:609560"^^xsd:string, "ORDO:254875"^^xsd:string ; oboInOwl:hasExactSynonym "TK2-related mitochondrial DNA depletion syndrome, myopathic form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080120"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080121 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:13644"^^xsd:string, "MESH:C580039"^^xsd:string, "OMIM:251880"^^xsd:string, "ORDO:279934"^^xsd:string ; oboInOwl:hasExactSynonym "deoxyguanosine kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080121"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080122 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1442"^^xsd:string ; oboInOwl:hasDbXref "GARD:5783"^^xsd:string, "ICD10CM:G31.81"^^xsd:string, "MESH:D002549"^^xsd:string, "NCI:C35257"^^xsd:string, "OMIM:203700"^^xsd:string, "ORDO:726"^^xsd:string, "SNOMEDCT_US_2021_03_01:20415001"^^xsd:string, "UMLS_CUI:C0205710"^^xsd:string ; oboInOwl:hasExactSynonym "Alper's syndrome"@en, "Alpers disease"@en, "Alpers progressive infantile poliodystrophy"@en, "Alpers syndrome"@en, "Alpers' disease or gray-matter degeneration"@en, "Diffuse Cerebral Sclerosis of Schilder"^^xsd:string, "mitochondrial DNA depletion syndrome 4a"^^xsd:string, "progressive sclerosing poliodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080122"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Alpers-Huttenlocher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:D002549"^^xsd:string . obo:DOID_0080123 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613662"^^xsd:string, "ORDO:298"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial neurogastrointestinal encephalopathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080123"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 4b"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080124 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567624"^^xsd:string, "MESH:C580473"^^xsd:string, "OMIM:612073"^^xsd:string ; oboInOwl:hasExactSynonym "succinate-CoA ligase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080124"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080125 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3972"^^xsd:string, "MESH:C538344"^^xsd:string, "OMIM:256810"^^xsd:string, "ORDO:255229"^^xsd:string ; oboInOwl:hasExactSynonym "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome"@en, "Navajo neurohepatopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080125"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080126 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050556"^^xsd:string ; oboInOwl:hasDbXref "GARD:4062"^^xsd:string, "MESH:C535523"^^xsd:string, "OMIM:271245"^^xsd:string ; oboInOwl:hasExactSynonym "OHAHA SYNDROME"@en, "infantile onset spinocerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080126"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080127 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:13200"^^xsd:string, "MESH:C536350"^^xsd:string, "OMIM:612075"^^xsd:string ; oboInOwl:hasExactSynonym "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080127"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 8a"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080128 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C580473"^^xsd:string, "OMIM:245400"^^xsd:string, "ORDO:17"^^xsd:string ; oboInOwl:hasExactSynonym "fatal infantile lactic acidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080128"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 9"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080129 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615084"^^xsd:string, "ORDO:352447"^^xsd:string ; oboInOwl:hasExactSynonym "progressive external ophthalmoplegia-myopathy-emaciation syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080129"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 11"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080130 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129977"^^xsd:string, "OMIM:617184"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080130"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 12a"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080131 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16."^^xsd:string ; oboInOwl:hasDbXref "GARD:13298"^^xsd:string, "OMIM:615471"^^xsd:string, "ORDO:369897"^^xsd:string ; oboInOwl:hasExactSynonym "FBXL4 deficiency"@en, "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome"@en, "mitochondrial DNA depletion syndrome 13, encephalomyopathic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080131"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 13"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080132 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:1142"^^xsd:string, "MESH:C538280"^^xsd:string, "OMIM:212350"^^xsd:string, "ORDO:1369"^^xsd:string ; oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 10"@en, "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080132"^^xsd:string ; a owl:Class ; rdfs:label "Sengers syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080133 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12632"^^xsd:string, "OMIM:605711"^^xsd:string, "ORDO:401869"^^xsd:string ; oboInOwl:hasExactSynonym "NFU1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080133"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080134 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12632"^^xsd:string, "OMIM:614299"^^xsd:string, "ORDO:401874"^^xsd:string ; oboInOwl:hasExactSynonym "BOLA3 deficiency"@en, "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080134"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080135 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615330"^^xsd:string, "ORDO:363424"^^xsd:string ; oboInOwl:hasExactSynonym "IBA57 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080135"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080136 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616370"^^xsd:string, "ORDO:457406"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080136"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080137 obo:IAO_0000115 "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610755"^^xsd:string ; oboInOwl:hasExactSynonym "Multiple Endocrine Neoplasia, Type IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080137"^^xsd:string ; a owl:Class ; rdfs:label "multiple endocrine neoplasia type 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080138 obo:IAO_0000115 "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614080"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080138"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080503, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080139 obo:IAO_0000115 "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080466"^^xsd:string ; oboInOwl:hasDbXref "GARD:12777"^^xsd:string, "OMIM:300868"^^xsd:string, "ORDO:300496"^^xsd:string ; oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 20"^^xsd:string, "early infantile epileptic encephalopathy 20"@en, "glycosylphosphatidylinositol biosynthesis defect 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080139"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080503, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080140 obo:IAO_0000115 "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080140"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080503, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080141 obo:IAO_0000115 "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:257300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080141"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080142 obo:IAO_0000115 "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614114"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080142"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080143 obo:IAO_0000115 "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position."^^xsd:string ; oboInOwl:hasDbXref "GARD:12590"^^xsd:string, "OMIM:PS135700"^^xsd:string, "ORDO:45358" ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080143"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "congenital fibrosis of the extraocular muscles"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_1279, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080144 obo:IAO_0000115 "An acute lymphocytic leukemia occuring during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3168"^^xsd:string ; oboInOwl:hasExactSynonym "Childhood Acute Lymphoblastic Leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080144"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood acute lymphocytic leukemia"@en ; rdfs:subClassOf obo:DOID_9952, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080145 obo:IAO_0000115 "A childhood acute lymphoblastic leukemia that has_material_basis in T-cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7933"^^xsd:string ; oboInOwl:hasDbXref "NCI:C5640"^^xsd:string, "UMLS_CUI:C1332997"^^xsd:string ; oboInOwl:hasExactSynonym "T-cell childhood acute lymphocytic leukemia"^^xsd:string, "childhood precursor T-lymphoblastic lymphoma/leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080145"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood T-cell acute lymphoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_0080144, obo:DOID_5603, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000084 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080146 obo:IAO_0000115 "A childhood acute lymphoblastic leukemia that has_material_basis in B-cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C9140"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080146"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "childhood B-cell acute lymphoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_0080144, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080147 obo:IAO_0000115 "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites."^^xsd:string ; oboInOwl:hasDbXref "GARD:3329"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080147"^^xsd:string ; a owl:Class ; rdfs:label "lymphoblastic lymphoma"@en ; rdfs:subClassOf obo:DOID_0060058 . obo:DOID_0080148 obo:IAO_0000115 "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7210"^^xsd:string ; oboInOwl:hasExactSynonym "Childhood T lymphoblastic lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080148"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "T-cell childhood lymphoblastic lymphoma"@en ; rdfs:subClassOf obo:DOID_0080147, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080149 obo:IAO_0000115 "An acute monocytic leukemia occurring in adults."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8263"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080149"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adult acute monocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8864, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0080150 obo:IAO_0000115 "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535668"^^xsd:string, "OMIM:201400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080150"^^xsd:string ; a owl:Class ; rdfs:label "adrenocorticotropic hormone deficiency"@en ; rdfs:subClassOf obo:DOID_9406 . obo:DOID_0080153 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201450"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080153"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "medium chain acyl-CoA dehydrogenase deficiency"@en ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0080154 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080154"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "short chain acyl-CoA dehydrogenase deficiency"@en ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0080155 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids."^^xsd:string ; oboInOwl:hasDbXref "OMIM:201475"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080155"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "very long chain acyl-CoA dehydrogenase deficiency"@en ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0080156 obo:IAO_0000115 "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:555"^^xsd:string, "OMIM:300200"^^xsd:string ; oboInOwl:hasExactSynonym "congenital adrenal hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080156"^^xsd:string ; a owl:Class ; rdfs:label "X-linked adrenal hypoplasia congenita"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10493, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080158 obo:IAO_0000115 "A keratitis that has_material_basis_in herpes simplex type infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007635"^^xsd:string, "MESH:D016849"^^xsd:string ; oboInOwl:hasExactSynonym "dendritic keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080158"^^xsd:string ; a owl:Class ; rdfs:label "herpes simplex virus keratitis"@en ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_0080159 obo:IAO_0000115 "A fungal meningitis that has_material_basis in Crypococcus fungal infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016919"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080159"^^xsd:string ; a owl:Class ; rdfs:label "Cryptococcal meningitis"@en ; rdfs:subClassOf obo:DOID_11608 . obo:DOID_0080160 obo:IAO_0000115 "A retinitis that has_material_basis_in Cytomegalovirus."^^xsd:string ; oboInOwl:hasDbXref "GARD:9531"^^xsd:string, "MESH:D017726"^^xsd:string ; oboInOwl:hasExactSynonym "CMV retinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080160"^^xsd:string ; a owl:Class ; rdfs:label "Cytomegalovirus retinitis"@en ; rdfs:subClassOf obo:DOID_3612 . obo:DOID_0080161 obo:IAO_0000115 "A candidiasis that is characterized by Candida infection located_in the skin."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080161"^^xsd:string ; a owl:Class ; rdfs:label "cutaneous candidiasis"@en ; rdfs:subClassOf obo:DOID_1508, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_0080162 obo:IAO_0000115 "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus."^^xsd:string ; oboInOwl:hasDbXref "GARD:10747"^^xsd:string, "MESH:D008181"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080162"^^xsd:string ; a owl:Class ; rdfs:label "lupus nephritis"@en ; rdfs:subClassOf obo:DOID_2921, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0080163 obo:IAO_0000115 "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:13198"^^xsd:string, "OMIM:617099"^^xsd:string ; oboInOwl:hasExactSynonym "autoinflammation, panniculitis and dermatosis syndrome"@en, "otulin-related autoinflammatory syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080163"^^xsd:string ; a owl:Class ; rdfs:label "otulipenia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2914, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080164 obo:IAO_0000115 "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84270"^^xsd:string, "UMLS_CUI:C2827356"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2"@en, "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080164"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1"@en ; rdfs:subClassOf obo:DOID_0070004 . obo:DOID_0080165 obo:IAO_0000115 "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84275"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080165"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement"@en ; rdfs:subClassOf obo:DOID_0080164 . obo:DOID_0080166 obo:IAO_0000115 "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84276"^^xsd:string ; oboInOwl:hasExactSynonym "Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080166"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms associated with PDGFRB rearrangement"@en ; rdfs:subClassOf obo:DOID_0080164 . obo:DOID_0080167 obo:IAO_0000115 "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84277"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080167"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities"@en ; rdfs:subClassOf obo:DOID_0080164 . obo:DOID_0080169 obo:IAO_0000115 "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth."^^xsd:string ; oboInOwl:hasDbXref "GARD:5274"^^xsd:string, "MESH:D018785"^^xsd:string, "OMIM:605067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080169"^^xsd:string ; a owl:Class ; rdfs:label "tricuspid atresia"@en ; rdfs:subClassOf obo:DOID_0050826 . obo:DOID_0080170 obo:IAO_0000115 "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors."^^xsd:string ; oboInOwl:hasDbXref "GARD:10878"^^xsd:string, "OMIM:610455"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080170"^^xsd:string ; a owl:Class ; rdfs:label "normophosphatemic familial tumoral calcinosis"@en ; rdfs:subClassOf obo:DOID_182 . obo:DOID_0080171 obo:IAO_0000115 "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing."^^xsd:string ; oboInOwl:hasDbXref "GARD:7792"^^xsd:string, "OMIM:189960"^^xsd:string ; oboInOwl:hasExactSynonym "esophageal atresia and/or tracheoesophageal fistula"@en, "tracheoesophageal fistula with or without esohageal atresia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080171"^^xsd:string ; a owl:Class ; rdfs:label "esophageal atresia/tracheoesophageal fistula"@en ; rdfs:subClassOf obo:DOID_77 . obo:DOID_0080172 obo:IAO_0000115 "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610460"^^xsd:string ; oboInOwl:hasExactSynonym "TPMT deficiency"@en, "poor metabolism of thiopurines-1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080172"^^xsd:string ; a owl:Class ; rdfs:label "thiopurine S-methyltransferase deficiency"@en ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0080173 obo:IAO_0000115 "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258040"^^xsd:string, "ORDO:322"^^xsd:string ; oboInOwl:hasExactSynonym "exstrophy-epispadias complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080173"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bladder exstrophy-epispadias-cloacal exstrophy complex"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080174 obo:IAO_0000115 "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q64.10"^^xsd:string, "ICD9CM:753.5"^^xsd:string, "MESH:D001746"^^xsd:string, "OMIM:600057"^^xsd:string, "ORDO:93930"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080174"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bladder exstrophy"@en ; rdfs:subClassOf obo:DOID_0080173, obo:DOID_365, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_0080175 obo:IAO_0000115 "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258040"^^xsd:string, "ORDO:93929"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080175"^^xsd:string ; a owl:Class ; rdfs:label "cloacal exstrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080173 . obo:DOID_0080176 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A39.0"^^xsd:string, "ICD9CM:036.0"^^xsd:string, "MESH:D008585"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080176"^^xsd:string ; a owl:Class ; rdfs:label "meningococcal meningitis"@en ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_0080177 obo:IAO_0000115 "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver."^^xsd:string ; oboInOwl:hasDbXref "GARD:13004"^^xsd:string, "ICD10CM:K76.5"^^xsd:string ; oboInOwl:hasExactSynonym "veno-occlusive disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080177"^^xsd:string ; a owl:Class ; rdfs:label "hepatic veno-occlusive disease"@en ; rdfs:subClassOf obo:DOID_272 ; skos:exactMatch "MESH:D006504"^^xsd:string . obo:DOID_0080178 obo:IAO_0000115 "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract."^^xsd:string ; oboInOwl:hasDbXref "MESH:D052016"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080178"^^xsd:string ; a owl:Class ; rdfs:label "mucositis"@en ; rdfs:subClassOf obo:DOID_77, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_0080179 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G00.0"^^xsd:string, "ICD9CM:320.0"^^xsd:string, "MESH:D008583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080179"^^xsd:string ; a owl:Class ; rdfs:label "haemophilus meningitis"@en ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_0080180 obo:IAO_0000115 "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero."^^xsd:string ; oboInOwl:hasExactSynonym "ZIKV congenital infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080180"^^xsd:string ; a owl:Class ; rdfs:label "Zika virus congenital syndrome"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080181 obo:IAO_0000115 "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612674"^^xsd:string, "ORDO:171848"^^xsd:string ; oboInOwl:hasExactSynonym "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080181"^^xsd:string ; a owl:Class ; rdfs:label "PHARC syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080182 obo:IAO_0000115 "A fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080182"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:DO_rare_slim ; a owl:Class ; rdfs:label "mixed fibrolamellar hepatocellular carcinoma"@en ; rdfs:subClassOf obo:DOID_5015 . obo:DOID_0080183 obo:IAO_0000115 "A colon carcinoma that is characterized by a solid growth pattern."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080183"^^xsd:string ; a owl:Class ; rdfs:label "medullary colon carcinoma"@en ; rdfs:subClassOf obo:DOID_1520 . obo:DOID_0080184 obo:IAO_0000115 "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin)."^^xsd:string ; oboInOwl:hasExactSynonym "indeterminate bronchioloalveolar carcinoma"@en, "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080184"^^xsd:string ; a owl:Class ; rdfs:label "mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_4926 . obo:DOID_0080185 obo:IAO_0000115 "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080185"^^xsd:string ; a owl:Class ; rdfs:label "mucinous bronchioloalveolar adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_4926 . obo:DOID_0080186 obo:IAO_0000115 "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080186"^^xsd:string ; a owl:Class ; rdfs:label "nonmucinous bronchioloalveolar adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_4926 . obo:DOID_0080187 obo:IAO_0000115 "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080187"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic neutrophilic leukemia"@en ; rdfs:subClassOf obo:DOID_1036 . obo:DOID_0080188 obo:IAO_0000115 "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:8225"^^xsd:string, "NCI:C3178"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080188"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic myelomonocytic leukemia"@en ; rdfs:subClassOf obo:DOID_1036 . obo:DOID_0080189 obo:IAO_0000115 "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080189"^^xsd:string ; a owl:Class ; rdfs:label "malignant hemangioma"@en ; rdfs:subClassOf obo:DOID_1115, obo:DOID_175, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0007798 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002418 ] ) ] . obo:DOID_0080190 obo:IAO_0000115 "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080190"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant epithelioid hemangioendothelioma"@en ; rdfs:subClassOf obo:DOID_0080189 . obo:DOID_0080191 obo:IAO_0000115 "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:12800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080191"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "PTEN hamartoma tumor syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080192 obo:IAO_0000115 "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080192"^^xsd:string ; a owl:Class ; rdfs:label "relapsed/refractory diffuse large B-cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080193 obo:IAO_0000115 "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus."^^xsd:string ; oboInOwl:hasDbXref "ORDO:420402"^^xsd:string ; oboInOwl:hasExactSynonym "canal dehiscence syndrome"@en, "superior canal dehiscence"@en, "superior canal syndrome"@en, "superior semicircular canal dehiscence syndrome"@en, "third mobile window syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080193"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "superior semicircular canal dehiscence"@en ; rdfs:subClassOf obo:DOID_2952 . obo:DOID_0080194 obo:IAO_0000115 "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254940"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080194"^^xsd:string ; a owl:Class ; rdfs:label "Carey-Fineman-Ziter syndrome"@en ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080195 obo:IAO_0000115 "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development."^^xsd:string ; oboInOwl:hasDbXref "GARD:8341"^^xsd:string, "OMIM:248800"^^xsd:string, "ORDO:559"^^xsd:string ; oboInOwl:hasExactSynonym "Garland-Moorhouse syndrome"@en, "Marinesco-Garland syndrome"@en, "Oligophrenic cerebellolenticular degeneration"@en, "hereditary oligophrenic cerebello-lental degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080195"^^xsd:string ; a owl:Class ; rdfs:label "Marinesco-Sjogren syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080196 obo:IAO_0000115 "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia."^^xsd:string ; oboInOwl:hasDbXref "GARD:10056"^^xsd:string, "OMIM:610536"^^xsd:string, "ORDO:79113"^^xsd:string ; oboInOwl:hasExactSynonym "MFDM syndrome"@en, "mandibulofacial dysostosis with microcephaly"@en, "mandibulofacial dysostosis-microcephaly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080196"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "mandibulofacial dysostosis, Guion-Almeida type"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080197 obo:IAO_0000115 "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617404"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080197"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy with cataracts and intellectual disability"@en ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080198 obo:IAO_0000115 "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b."^^xsd:string ; oboInOwl:hasDbXref "GARD:9511"^^xsd:string, "OMIM:500000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080198"^^xsd:string ; a owl:Class ; rdfs:label "infantile histiocytoid cardiomyopathy"@en ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0060036, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0080199 obo:IAO_0000115 "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa."^^xsd:string ; oboInOwl:hasDbXref "EFO:1001951"^^xsd:string, "MESH:D015179"^^xsd:string, "NCI:C2955"^^xsd:string, "UMLS_CUI:C0009402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080199"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colorectal carcinoma"@en ; rdfs:subClassOf obo:DOID_305, obo:DOID_9256, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_0080200 obo:IAO_0000115 "A renal agenesis that is characterized by the absence of both kidneys at birth."^^xsd:string ; oboInOwl:hasDbXref "ORDO:1848"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080200"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "bilateral renal aplasia"@en ; rdfs:subClassOf obo:DOID_14766 ; owl:disjointWith obo:DOID_12594 . obo:DOID_0080201 obo:IAO_0000115 "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070312"^^xsd:string ; oboInOwl:hasDbXref "GARD:8422"^^xsd:string, "OMIM:261540"^^xsd:string ; oboInOwl:hasExactSynonym "Krause-Kivlin syndrome"@en, "Peters anomaly-short limb dwarfism syndrome"@en, "Peters-plus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080201"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Peters plus syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080202 obo:IAO_0000115 "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:5743"^^xsd:string, "MESH:D003528"^^xsd:string, "NCI:C2970"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080202"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adenoid cystic carcinoma"@en ; rdfs:subClassOf obo:DOID_305, obo:DOID_8858, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001732 ] . obo:DOID_0080204 obo:IAO_0000115 "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons."^^xsd:string ; oboInOwl:hasDbXref "ORDO:93101"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080204"^^xsd:string ; a owl:Class ; rdfs:label "renal hypoplasia"@en ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0080205 obo:IAO_0000115 "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS610805"^^xsd:string, "ORDO:93545"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomalies of the kidney and urinary tract"@en, "Renal or urinary tract malformation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080205"^^xsd:string ; a owl:Class ; rdfs:label "CAKUT"@en ; rdfs:subClassOf obo:DOID_18 . obo:DOID_0080206 obo:IAO_0000115 "A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610805"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomalies of the kidney and urinary tract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080206"^^xsd:string ; a owl:Class ; rdfs:label "CAKUT1"@en ; rdfs:subClassOf obo:DOID_0080205 . obo:DOID_0080207 obo:IAO_0000115 "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:143400"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomalies of the kidney and urinary tract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080207"^^xsd:string ; a owl:Class ; rdfs:label "CAKUT2"@en ; rdfs:subClassOf obo:DOID_0080205 . obo:DOID_0080208 obo:IAO_0000115 "A fatty liver disease characterized by the storing of excess fat in liver cells which is not caused by heavy alcohol use."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613282"^^xsd:string, "OMIM:613387"^^xsd:string ; oboInOwl:hasExactSynonym "NAFLD"@en, "non-alcoholic fatty liver disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080208"^^xsd:string ; a owl:Class ; rdfs:label "non-alcoholic fatty liver disease"@en ; rdfs:subClassOf obo:DOID_9452 . obo:DOID_0080209 obo:IAO_0000115 "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616084"^^xsd:string ; oboInOwl:hasExactSynonym "SIFD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080209"^^xsd:string ; a owl:Class ; rdfs:label "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080210 obo:IAO_0000115 "A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C85.2"^^xsd:string, "ORDO:98838"^^xsd:string ; oboInOwl:hasExactSynonym "Large cell lymphoma of the mediastinum"@en, "Mediastinal diffuse large-cell lymphoma with sclerosis"@en, "Primary mediastinal clear cell lymphoma of B-cell type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080210"^^xsd:string ; a owl:Class ; rdfs:label "primary mediastinal B-cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080211 obo:IAO_0000115 "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8863"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodal marginal zone lymphoma"@en ; rdfs:subClassOf obo:DOID_0050748 . obo:DOID_0080212 obo:IAO_0000115 "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:263200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080212"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 4"@en ; rdfs:subClassOf obo:DOID_0110861 . obo:DOID_0080213 obo:IAO_0000115 "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits."^^xsd:string ; oboInOwl:hasDbXref "GARD:4439"^^xsd:string, "OMIM:175860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080213"^^xsd:string ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma type II"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060361, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080214 obo:IAO_0000115 "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles."^^xsd:string ; oboInOwl:hasDbXref "OMIM:148600"^^xsd:string, "OMIM:614936"^^xsd:string ; oboInOwl:hasExactSynonym "punctate palmoplantar keratoderma type 1A"^^xsd:string, "punctate palmoplantar keratoderma type 1B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080214"^^xsd:string ; a owl:Class ; rdfs:label "punctate palmoplantar keratoderma type I"@en ; rdfs:subClassOf obo:DOID_0060361 . obo:DOID_0080215 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300607"^^xsd:string ; oboInOwl:hasExactSynonym "DEE8"^^xsd:string, "EIEE8"^^xsd:string, "early infantile epileptic encephalopathy 8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080215"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 8"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080216 obo:IAO_0000115 "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum."^^xsd:string ; oboInOwl:hasDbXref "GARD:54"^^xsd:string, "MESH:C535720"^^xsd:string, "OMIM:223400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080216"^^xsd:string ; a owl:Class ; rdfs:label "duodenal atresia"@en ; rdfs:subClassOf obo:DOID_10486 . obo:DOID_0080217 obo:IAO_0000115 "A lipid storage disease characterized by lysosomal and lipase deficiency."^^xsd:string ; oboInOwl:hasDbXref "OMIM:278000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080217"^^xsd:string ; a owl:Class ; rdfs:label "lysosomal and lipase deficiency"@en ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0080218 obo:IAO_0000115 "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung."^^xsd:string ; oboInOwl:hasDbXref "GARD:4997"^^xsd:string, "OMIM:173600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080218"^^xsd:string ; a owl:Class ; rdfs:label "primary spontaneous pneumothorax"@en ; rdfs:subClassOf obo:DOID_1673 . obo:DOID_0080219 obo:IAO_0000115 "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145680"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080219"^^xsd:string ; a owl:Class ; rdfs:label "dystransthyretinemic hyperthyroxinemia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2855, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080220 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080220"^^xsd:string ; a owl:Class ; rdfs:label "obsolete major affective disorder 1"@en ; owl:deprecated true . obo:DOID_0080221 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080221"^^xsd:string ; a owl:Class ; rdfs:label "obsolete major affective disorder 2"@en ; owl:deprecated true . obo:DOID_0080222 obo:IAO_0000115 "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10680"^^xsd:string, "MESH:C548075"^^xsd:string, "OMIM:603233"^^xsd:string, "ORDO:94089"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080222"^^xsd:string ; a owl:Class ; rdfs:label "pseudohypoparathyroidism type IB"@en ; rdfs:subClassOf obo:DOID_4184 . obo:DOID_0080223 obo:IAO_0000115 "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles."^^xsd:string ; oboInOwl:hasDbXref "GARD:2826"^^xsd:string, "OMIM:144200"^^xsd:string, "ORDO:2199"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080223"^^xsd:string ; a owl:Class ; rdfs:label "epidermolytic palmoplantar keratoderma"@en ; rdfs:subClassOf obo:DOID_3390 . obo:DOID_0080224 obo:IAO_0000115 "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen."^^xsd:string ; oboInOwl:hasDbXref "GARD:2139"^^xsd:string, "OMIM:131750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080224"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant dystrophic epidermolysis bullosa"@en ; rdfs:subClassOf obo:DOID_4959 . obo:DOID_0080225 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080225"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis type 23"@en ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0080226 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617854"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080226"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 56"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080227 obo:IAO_0000115 "A syndromic intellectual disability characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080227"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 55"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080228 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617798"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080228"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 53"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080229 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080229"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant mental retardation 61"^^xsd:string ; owl:deprecated true . obo:DOID_0080230 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080230"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 54"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080231 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617796"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080231"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 52"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080232 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080232"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 51"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080233 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617787"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080233"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 50"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080234 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36."^^xsd:string ; oboInOwl:hasDbXref "GARD:13584"^^xsd:string, "OMIM:617752"^^xsd:string ; oboInOwl:hasExactSynonym "Baraitser syndrome"^^xsd:string, "CLABARS"^^xsd:string, "autosomal dominant intellectual disability 49"^^xsd:string, "autosomal dominant mental retardation 49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080234"^^xsd:string ; a owl:Class ; rdfs:label "Clark-Baraitser syndrome"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080235 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617751"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080235"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 48"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080236 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080236"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 45"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080237 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617601"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080237"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 46"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080238 obo:IAO_0000115 "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617635"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080238"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mental retardation 47"@en ; rdfs:subClassOf obo:DOID_0060307 . obo:DOID_0080239 obo:IAO_0000115 "An autosomal recessive non-syndromic intellectual disability that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080229"^^xsd:string ; oboInOwl:hasDbXref "OMIM:617773"^^xsd:string ; oboInOwl:hasExactSynonym "Alwadei syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080239"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive mental retardation 61"@en ; rdfs:subClassOf obo:DOID_0060308 . obo:DOID_0080240 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300997"^^xsd:string ; oboInOwl:hasExactSynonym "MRX106"^^xsd:string, "X-linked mental retardation 106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080240"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 106"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0080241 obo:IAO_0000115 "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300998"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080241"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked mental retardation 35"@en ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080242 obo:IAO_0000115 "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301008"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080242"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked mental retardation Hough type"@en ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0080243 obo:IAO_0000115 "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617607"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080243"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3B"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080244 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301006"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080244"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080245 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617729"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080245"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080246 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617730"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080246"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080694, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080247 obo:IAO_0000115 "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617731"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080247"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome 5"@en ; rdfs:subClassOf obo:DOID_0080694 . obo:DOID_0080248 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080248"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 2"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080249 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617525"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080249"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 3"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080250 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080250"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 4"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080251 obo:IAO_0000115 "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617756"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080251"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 5"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080252 obo:IAO_0000115 "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617560"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080252"^^xsd:string ; a owl:Class ; rdfs:label "spastic ataxia 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080253 obo:IAO_0000115 "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617562"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080253"^^xsd:string ; a owl:Class ; rdfs:label "Meckel syndrome 13"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050778, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080254 obo:IAO_0000115 "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617563"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080254"^^xsd:string ; a owl:Class ; rdfs:label "orofaciodigital syndrome XVI"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080255 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617564"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080255"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080256 obo:IAO_0000115 "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617565"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080256"^^xsd:string ; a owl:Class ; rdfs:label "Perrault syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050857, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080257 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617574"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080257"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 13"@en ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080258 obo:IAO_0000115 "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080258"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital ichthyosis 14"@en ; rdfs:subClassOf obo:DOID_0060655, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080259 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617584"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080259"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 25"@en ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080260 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617633"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080260"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 26"@en ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0080261 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617637"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080261"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 106"@en ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0080262 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617639"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080262"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 107"@en ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0080263 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617654"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080263"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 108"@en ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0080264 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in CTNNB1 on chromosome 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617572"^^xsd:string ; oboInOwl:hasExactSynonym "EVR7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080264"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 7"@en ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080265 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617575"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080265"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080266 obo:IAO_0000115 "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617577"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080266"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 37"@en ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0080267 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617605"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080267"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 71"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080268 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617606"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080268"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 72"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080269 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617663"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080269"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 73"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080270 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617772"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080270"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 34"@en ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0080271 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617609"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080271"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 15"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080272 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617783"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080272"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 16"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080273 obo:IAO_0000115 "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617610"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080273"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 5"@en ; rdfs:subClassOf obo:DOID_0110861 . obo:DOID_0080274 obo:IAO_0000115 "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617613"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080274"^^xsd:string ; a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070330, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080275 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080275"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 30"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080276 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080276"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM notes Meckel syndrome 13 and Joubert syndrome 29 are both caused by mutation in the TMEM107 gene [LS]"^^xsd:string ; rdfs:label "Joubert syndrome 29"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080277 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617761"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080277"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 31"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080278 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617757"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080278"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 32"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080279 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617767"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080279"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 33"@en ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0080280 obo:IAO_0000115 "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617626"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080280"^^xsd:string ; a owl:Class ; rdfs:label "gingival fibromatosis 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060466, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080281 obo:IAO_0000115 "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617629"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080281"^^xsd:string ; a owl:Class ; rdfs:label "schizophrenia 19"@en ; rdfs:subClassOf obo:DOID_5419 . obo:DOID_0080282 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617665"^^xsd:string ; oboInOwl:hasExactSynonym "DEE56"^^xsd:string, "early infantile epileptic encephalopathy 56"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080282"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 56"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080283 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617599"^^xsd:string ; oboInOwl:hasExactSynonym "DEE55"^^xsd:string, "GPIBD14"^^xsd:string, "early infantile epileptic encephalopathy 55"^^xsd:string, "glycosylphosphatidylinositol biosynthesis defect 14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080283"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 55"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080284 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617771"^^xsd:string ; oboInOwl:hasExactSynonym "DEE57"^^xsd:string, "early infantile epileptic encephalopathy 57"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080284"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 57"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080285 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617830"^^xsd:string ; oboInOwl:hasExactSynonym "DEE58"^^xsd:string, "early infantile epileptic encephalopathy 58"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080285"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 58"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080286 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617691"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080286"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia 44"@en ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0080287 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617769"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080287"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia 45"@en ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0080288 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617770"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080288"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia 46"@en ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0080289 obo:IAO_0000115 "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617926"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080289"^^xsd:string ; a owl:Class ; rdfs:label "orofaciodigital syndrome XVII"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4501, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080290 obo:IAO_0000115 "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617907"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080290"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080291 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617904"^^xsd:string ; oboInOwl:hasExactSynonym "DEE59"^^xsd:string, "early infantile epileptic encephalopathy 59"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080291"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 59"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080292 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617871"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080292"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 81"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080293 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617866"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080293"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 18 with polydactyly"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080294 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080294"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate G"@en ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080295 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617895"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080295"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 19 with or without polydactyly"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080296 obo:IAO_0000115 "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617899"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080296"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080297 obo:IAO_0000115 """A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12."""^^xsd:string ; oboInOwl:hasDbXref "OMIM:617808"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080297"^^xsd:string ; a owl:Class ; rdfs:label "Coffin-Siris syndrome 6"@en ; rdfs:subClassOf obo:DOID_1925 . obo:DOID_0080298 obo:IAO_0000115 "A lipodystrophy that is characterized by complete loss of adipose tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080298"^^xsd:string ; a owl:Class ; rdfs:label "complete generalized lipodystrophy"@en ; rdfs:subClassOf obo:DOID_811 . obo:DOID_0080299 obo:IAO_0000115 "A lipodystrophy that is characterized by partial loss of adipose tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080299"^^xsd:string ; a owl:Class ; rdfs:label "partial lipodystrophy"@en ; rdfs:subClassOf obo:DOID_811 . obo:DOID_0080300 obo:IAO_0000115 "A complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth."^^xsd:string ; oboInOwl:hasExactSynonym "Lawrence syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080300"^^xsd:string ; a owl:Class ; rdfs:label "acquired generalized lipodystrophy"@en ; rdfs:subClassOf obo:DOID_0080298 . obo:DOID_0080301 obo:IAO_0000115 "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:8702"^^xsd:string, "ORDO:2134"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080301"^^xsd:string ; a owl:Class ; rdfs:label "atypical hemolytic-uremic syndrome"@en ; rdfs:subClassOf obo:DOID_626 ; skos:exactMatch "MESH:D065766"^^xsd:string . obo:DOID_0080302 obo:IAO_0000115 "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012891"^^xsd:string, "SNOMEDCT_US_2021_03_01:230493001"^^xsd:string, "UMLS_CUI:C0338495"^^xsd:string ; oboInOwl:hasExactSynonym "complex sleep apnea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080302"^^xsd:string ; a owl:Class ; rdfs:label "mixed sleep apnea"@en ; rdfs:subClassOf obo:DOID_0050847 . obo:DOID_0080303 obo:IAO_0000115 "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080303"^^xsd:string ; a owl:Class ; rdfs:label "mucinous lung adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3030, obo:DOID_3910, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_0080304 obo:IAO_0000115 "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080304"^^xsd:string ; a owl:Class ; rdfs:label "lung mucinous cystadenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3910, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000150 ] . obo:DOID_0080305 obo:IAO_0000115 "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080305"^^xsd:string ; a owl:Class ; rdfs:label "signet ring lung adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_0080306 obo:IAO_0000115 "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080306"^^xsd:string ; a owl:Class ; rdfs:label "solid adenocarcinoma with mucin production"@en ; rdfs:subClassOf obo:DOID_3910 . obo:DOID_0080307 obo:IAO_0000115 "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles."^^xsd:string ; oboInOwl:hasDbXref "GARD:10529"^^xsd:string, "MESH:C580316"^^xsd:string, "OMIM:PS601419"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080307"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy"@en ; rdfs:subClassOf obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080308 obo:IAO_0000115 "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617258"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080308"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080309 obo:IAO_0000115 "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613869"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080309"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile hypertonic myofibrillar myopathy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080311 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080311"^^xsd:string ; a owl:Class ; rdfs:label "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance"@en ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0080312 obo:IAO_0000115 "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in ARHGEF2 on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617523"^^xsd:string ; oboInOwl:hasExactSynonym "NEDMHM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080312"^^xsd:string ; a owl:Class ; rdfs:label "neurodevelopmental disorder with midbrain and hindbrain malformations"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080313 obo:IAO_0000115 "A physical disorder that is characterized by fusion of maxilla and mandible."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563047"^^xsd:string, "OMIM:119550"^^xsd:string, "ORDO:2016"^^xsd:string, "SNOMEDCT_US_2021_03_01:403772000"^^xsd:string, "UMLS_CUI:C0795898"^^xsd:string ; oboInOwl:hasExactSynonym "CPLS syndrome"@en, "syngnathia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080313"^^xsd:string ; a owl:Class ; rdfs:label "cleft palate-lateral synechia syndrome"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080314 obo:IAO_0000115 "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in GUCA1A on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566579"^^xsd:string, "OMIM:602093"^^xsd:string, "UMLS_CUI:C1838190"^^xsd:string, "UMLS_CUI:C1865869"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080314"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 14"@en ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0080315 obo:IAO_0000115 "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline."^^xsd:string ; oboInOwl:hasDbXref "GARD:3445"^^xsd:string, "MESH:C536141"^^xsd:string, "OMIM:PS604004"^^xsd:string, "ORDO:2478"^^xsd:string, "SNOMEDCT_US_2021_03_01:703536004"^^xsd:string, "UMLS_CUI:C1858854"^^xsd:string ; oboInOwl:hasExactSynonym "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome"@en, "vacuolating megalencephalic leukoencephalopathy with subcortical cysts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080315"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts"@en ; rdfs:subClassOf obo:DOID_10579 . obo:DOID_0080316 obo:IAO_0000115 "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in MLC1 on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536141"^^xsd:string, "OMIM:604004"^^xsd:string, "SNOMEDCT_US_2019_09_01:703536004"^^xsd:string ; oboInOwl:hasExactSynonym "Van Der Knaap disease"@en, "leukoencephalopathy with swelling and cysts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080316"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080315, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080317 obo:IAO_0000115 "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in HEPACAM on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613926"^^xsd:string ; oboInOwl:hasExactSynonym "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080317"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2B"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080315, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080318 obo:IAO_0000115 "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in HEPACAM on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613925"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080318"^^xsd:string ; a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2A"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080315, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080319 obo:IAO_0000115 "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300853"^^xsd:string ; oboInOwl:hasExactSynonym "XMEN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080319"^^xsd:string ; a owl:Class ; rdfs:label "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080320 obo:IAO_0000115 "A central nervous system benign neoplasm the is located_in the peripheral nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080320"^^xsd:string ; a owl:Class ; rdfs:label "peripheral nervous system benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060090 . obo:DOID_0080321 obo:IAO_0000115 "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080321"^^xsd:string ; a owl:Class ; rdfs:label "autonomic nervous system benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0080320 . obo:DOID_0080322 obo:IAO_0000115 "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS173900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080322"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease"@en ; rdfs:subClassOf obo:DOID_2975 . obo:DOID_0080323 obo:IAO_0000115 "A squamous cell carcinoma located in the pancreas."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080323"^^xsd:string ; a owl:Class ; rdfs:label "pancreatic squamous cell carcinoma"@en ; rdfs:subClassOf obo:DOID_1749, obo:DOID_1793, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] . obo:DOID_0080324 obo:IAO_0000115 "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:191100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080324"^^xsd:string ; a owl:Class ; rdfs:label "tuberous sclerosis 1"@en ; rdfs:subClassOf obo:DOID_13515 . obo:DOID_0080325 obo:IAO_0000115 "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080325"^^xsd:string ; a owl:Class ; rdfs:label "tuberous sclerosis 2"@en ; rdfs:subClassOf obo:DOID_13515 . obo:DOID_0080326 obo:IAO_0000115 "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS192600"^^xsd:string, "ORDO:217569"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080326"^^xsd:string ; a owl:Class ; rdfs:label "familial hypertrophic cardiomyopathy"@en ; rdfs:subClassOf obo:DOID_11984 . obo:DOID_0080327 obo:IAO_0000115 "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236500"^^xsd:string ; oboInOwl:hasExactSynonym "MARCH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080327"^^xsd:string ; a owl:Class ; rdfs:label "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080328 obo:IAO_0000115 "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity."^^xsd:string ; oboInOwl:hasDbXref "GARD:13349"^^xsd:string, "OMIM:615849"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080328"^^xsd:string ; a owl:Class ; rdfs:label "Culler-Jones syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080329 obo:IAO_0000115 "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention."^^xsd:string ; oboInOwl:hasDbXref "OMIM:272430"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080329"^^xsd:string ; a owl:Class ; rdfs:label "cold-induced sweating syndrome 1"@en ; rdfs:subClassOf obo:DOID_0060294 . obo:DOID_0080330 obo:IAO_0000115 "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610313"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080330"^^xsd:string ; a owl:Class ; rdfs:label "cold-induced sweating syndrome 2"@en ; rdfs:subClassOf obo:DOID_0060294 . obo:DOID_0080331 obo:IAO_0000115 "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617055"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080331"^^xsd:string ; a owl:Class ; rdfs:label "cold-induced sweating syndrome 3"@en ; rdfs:subClassOf obo:DOID_0060294 . obo:DOID_0080332 obo:IAO_0000115 "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS109730"^^xsd:string, "ORDO:402075"^^xsd:string ; oboInOwl:hasExactSynonym "Familial bicuspid aortic valve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080332"^^xsd:string ; a owl:Class ; rdfs:label "bicuspid aortic valve disease"@en ; rdfs:subClassOf obo:DOID_62 . obo:DOID_0080333 obo:IAO_0000115 "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:109730"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080333"^^xsd:string ; a owl:Class ; rdfs:label "aortic valve disease 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080332, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080334 obo:IAO_0000115 "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614823"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080334"^^xsd:string ; a owl:Class ; rdfs:label "aortic valve disease 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080332, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080335 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:1142"^^xsd:string, "NCI:C129977"^^xsd:string, "OMIM:615418"^^xsd:string, "ORDO:1369"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080335"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 12b"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080336 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616896"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080336"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 14"@en ; rdfs:subClassOf obo:DOID_0070329 . obo:DOID_0080337 obo:IAO_0000115 "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617156"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080337"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 15"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0070329, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080338 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609820"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080338"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10780, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080339 obo:IAO_0000115 "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611783"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080339"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 4"@en ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0080340 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete X-linked dominant disease"^^xsd:string ; owl:deprecated true . obo:DOID_0080341 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080341"^^xsd:string ; a owl:Class ; rdfs:label "obsolete X-linked recessive disease"^^xsd:string ; owl:deprecated true . obo:DOID_0080342 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300209"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080342"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Simpson-Golabi-Behmel syndrome type 2"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080343 obo:IAO_0000115 "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080343"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive pyridoxine-refractory sideroblastic anemia 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_8955, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080344 obo:IAO_0000115 "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS119580"^^xsd:string ; oboInOwl:hasExactSynonym "Blepharo-cheilo-odontic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080344"^^xsd:string ; a owl:Class ; rdfs:label "blepharocheilodontic syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080345 obo:IAO_0000115 "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:119580"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080345"^^xsd:string ; a owl:Class ; rdfs:label "blepharocheilodontic syndrome 1"@en ; rdfs:subClassOf obo:DOID_0080344 . obo:DOID_0080346 obo:IAO_0000115 "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617681"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080346"^^xsd:string ; a owl:Class ; rdfs:label "blepharocheilodontic syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080344 . obo:DOID_0080347 obo:IAO_0000115 "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones."^^xsd:string ; oboInOwl:hasDbXref "ICDO:M8700/3"^^xsd:string ; oboInOwl:hasExactSynonym "Pheochromocytoma, malignant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080347"^^xsd:string ; a owl:Class ; rdfs:label "malignant pheochromocytoma"@en ; rdfs:subClassOf obo:DOID_5719 . obo:DOID_0080348 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in mutation in the gene encoding the amyloid precursor protein on chromosome 21q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:104300"^^xsd:string ; oboInOwl:hasExactSynonym "Alzheimer's disease 1, early onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080348"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080349 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080423"^^xsd:string ; oboInOwl:hasDbXref "OMIM:612949"^^xsd:string, "ORDO:353217"^^xsd:string ; oboInOwl:hasExactSynonym "AGC1 deficiency"@en, "early infantile epileptic encephalopathy 39"^^xsd:string, "epileptic encephalopathy with global cerebral demyelination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080349"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 39"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080350 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:617304"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080350"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 77"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080351 obo:IAO_0000115 "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activiating mutations in the PIK3CA gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:10939"^^xsd:string, "ICD10CM:Q87.3"^^xsd:string, "OMIM:612918"^^xsd:string, "ORDO:140944"^^xsd:string ; oboInOwl:hasExactSynonym "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080351"^^xsd:string ; a owl:Class ; rdfs:label "CLOVES syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080352 obo:IAO_0000115 "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:302960"^^xsd:string ; oboInOwl:hasExactSynonym "Conradi-Hunermann Syndrome"@en, "Happle syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080352"^^xsd:string ; a owl:Class ; rdfs:label "X-linked chondrodysplasia punctata 2"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_2581, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080353 obo:IAO_0000115 "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300554"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080353"^^xsd:string ; a owl:Class ; rdfs:label "X-linked recessive hypophosphatemic rickets"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10609, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080354 obo:IAO_0000115 "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development."^^xsd:string ; oboInOwl:hasDbXref "GARD:10130"^^xsd:string, "OMIM:606232"^^xsd:string, "ORDO:48652"^^xsd:string ; oboInOwl:hasExactSynonym "22q13.3 deletion syndrome"@en, "monosomy 22q13 syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080354"^^xsd:string ; a owl:Class ; rdfs:label "Phelan-McDermid syndrome"@en ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0080355 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the hepatobiliary system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080355"^^xsd:string ; a owl:Class ; rdfs:label "hepatobiliary system cancer"@en ; rdfs:subClassOf obo:DOID_3119 . obo:DOID_0080356 obo:IAO_0000115 "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:12521"^^xsd:string, "ORDO:284264"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080356"^^xsd:string ; a owl:Class ; rdfs:label "IgG4-related disease"@en ; rdfs:subClassOf obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000356 ] . obo:DOID_0080357 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604377"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080357"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080358 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615119"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080358"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080359 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080359"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080360 obo:IAO_0000115 "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616501"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080360"^^xsd:string ; a owl:Class ; rdfs:label "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4"@en ; rdfs:subClassOf obo:DOID_0050713, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080361 obo:IAO_0000115 "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:6447"^^xsd:string, "MESH:C536561"^^xsd:string, "OMIM:602079"^^xsd:string, "ORDO:468726"^^xsd:string ; oboInOwl:hasExactSynonym "fish-odor syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080361"^^xsd:string ; a owl:Class ; rdfs:label "trimethylaminuria"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080362 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:313400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080362"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spondyloepiphyseal dysplasia tarda"@en ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_0080012, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0080363 obo:IAO_0000115 "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614741"^^xsd:string, "ORDO:447784"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080363"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial pyruvate carrier deficiency"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080364 obo:IAO_0000115 "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080364"^^xsd:string ; a owl:Class ; rdfs:label "malignant adenoma"@en ; rdfs:subClassOf obo:DOID_0050687 . obo:DOID_0080365 obo:IAO_0000115 "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004714"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080365"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "endometrial hyperplasia"@en ; rdfs:subClassOf obo:DOID_0060095 . obo:DOID_0080366 obo:IAO_0000115 "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080366"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "desmoid tumor"@en ; rdfs:subClassOf obo:DOID_0060123 . obo:DOID_0080367 obo:IAO_0000115 "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4563"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080367"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "chronic eosinophilic leukemia"@en ; rdfs:subClassOf obo:DOID_1036 . obo:DOID_0080368 obo:IAO_0000115 "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080368"^^xsd:string ; a owl:Class ; rdfs:label "sex cord-stromal benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0050622 . obo:DOID_0080369 obo:IAO_0000115 "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4862"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080369"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "ovarian sex-cord stromal tumor"@en ; rdfs:subClassOf obo:DOID_192 . obo:DOID_0080370 obo:IAO_0000115 "A sex cord-stromal benign neoplasm that arises from the ovary."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6803"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080370"^^xsd:string ; a owl:Class ; rdfs:label "ovarian sex cord-stromal benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0080368 . obo:DOID_0080371 obo:IAO_0000115 "A sex cord-stromal benign neoplasm that arises from the testis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080371"^^xsd:string ; a owl:Class ; rdfs:label "testicular sex cord-stromal benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0080368 . obo:DOID_0080372 obo:IAO_0000115 "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080372"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "epithelioid inflammatory myofibroblastic sarcoma"@en ; rdfs:subClassOf obo:DOID_0050905 . obo:DOID_0080373 obo:IAO_0000115 "A male reproductive system disease that is located_in the epididymis."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080373"^^xsd:string ; a owl:Class ; rdfs:label "epididymis disease"@en ; rdfs:subClassOf obo:DOID_48 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001301 ] ) ] . obo:DOID_0080374 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080374"^^xsd:string ; a owl:Class ; rdfs:label "gastroesophageal cancer"@en ; rdfs:subClassOf obo:DOID_3119 . obo:DOID_0080375 obo:IAO_0000115 "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue."^^xsd:string ; oboInOwl:hasExactSynonym "gastric and esophageal adenocarcinoma"@en, "gastro-esophageal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080375"^^xsd:string ; a owl:Class ; rdfs:label "gastroesophageal adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_0080374, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0080376 obo:IAO_0000115 "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:190351"^^xsd:string ; oboInOwl:hasExactSynonym "trichorhinophalangeal syndrome type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080376"^^xsd:string ; a owl:Class ; rdfs:label "trichorhinophalangeal syndrome type III"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080377 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080378"^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS214100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080377"^^xsd:string ; a owl:Class ; rdfs:label "peroxisomal biogenesis disorder"@en ; rdfs:subClassOf obo:DOID_906 . obo:DOID_0080378 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080378"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Zellweger spectrum disorder"@en ; owl:deprecated true . obo:DOID_0080379 obo:IAO_0000115 "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600995"^^xsd:string ; oboInOwl:hasExactSynonym "steroid-resistant autosomal recessive nephrotic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080379"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080380 obo:IAO_0000115 "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614199"^^xsd:string ; oboInOwl:hasExactSynonym "nephrotic syndrome type 5, with or without ocular abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080380"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080381 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616893"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080381"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080382 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610725"^^xsd:string ; oboInOwl:hasExactSynonym "early onset nephrotic syndrome type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080382"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080383 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080383"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080384 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614196"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080384"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080385 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616730"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080385"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080386 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615861"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080386"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080387 obo:IAO_0000115 "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080387"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080388 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615008"^^xsd:string, "ORDO:329903"^^xsd:string ; oboInOwl:hasExactSynonym "Ig-mediated MPGN"@en, "Ig-mediated membranoproliferative glomerulonephritis"@en, "Immunoglobulin-mediated MPGN"@en, "immunoglobulin-mediated membranoproliferative glomerulonephritis"@en, "nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080388"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080389 obo:IAO_0000115 "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615244"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080389"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080390 obo:IAO_0000115 "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:1500"^^xsd:string, "MEDDRA:10060740"^^xsd:string, "NCI:C122795"^^xsd:string, "OMIM:256300"^^xsd:string, "ORDO:839"^^xsd:string, "SNOMEDCT_US_2021_03_01:197601003"^^xsd:string, "UMLS_CUI:C0403399"^^xsd:string ; oboInOwl:hasExactSynonym "Finnish congenital nephrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080390"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080391 obo:IAO_0000115 "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615573"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080391"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080392 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618176"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080392"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080393 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618177"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080393"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080394 obo:IAO_0000115 "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618178"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080394"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080395 obo:IAO_0000115 "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:119530"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080395"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080396 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602966"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080396"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080397 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600757"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080397"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080398 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608371"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080398"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080399 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608874"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080399"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080400 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasExactSynonym "Zlotogora-Ogur syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080400"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:C563464"^^xsd:string . obo:DOID_0080401 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618149"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080401"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080402 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610361"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080402"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080403 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613705"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080403"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080404 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600625"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080404"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080405 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612858"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic cleft lip with or without cleft palate 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080405"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080406 obo:IAO_0000115 "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613857"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080406"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080407 obo:IAO_0000115 "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080407"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080408 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080408"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567 . obo:DOID_0080409 obo:IAO_0000115 "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:175100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080409"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080410 obo:IAO_0000115 "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D12.6"^^xsd:string, "OMIM:608456"^^xsd:string, "ORDO:247798"^^xsd:string ; oboInOwl:hasExactSynonym "MUTYH-related attenuated FAP"@en, "MUTYH-related attenuated familial adenomatous polyposis"@en, "MUTYH-related attenuated familial polyposis coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080410"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080411 obo:IAO_0000115 "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616415"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080411"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080412 obo:IAO_0000115 "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080412"^^xsd:string ; a owl:Class ; rdfs:label "familial adenomatous polyposis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050424, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080413 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "GARD:13676"^^xsd:string, "OMIM:615476"^^xsd:string ; oboInOwl:hasExactSynonym "DEE18"^^xsd:string, "early infantile epileptic encephalopathy 18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080413"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080414 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615006"^^xsd:string ; oboInOwl:hasExactSynonym "DEE15"^^xsd:string, "early infantile epileptic encephalopathy 15"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080414"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080415 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615859"^^xsd:string, "ORDO:411986"^^xsd:string ; oboInOwl:hasExactSynonym "DEE23"^^xsd:string, "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"@en, "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"@en, "early infantile epileptic encephalopathy 23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080415"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080416 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616366"^^xsd:string ; oboInOwl:hasExactSynonym "DEE32"^^xsd:string, "early infantile epileptic encephalopathy 32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080416"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080417 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617020"^^xsd:string ; oboInOwl:hasExactSynonym "DEE38"^^xsd:string, "early infantile epileptic encephalopathy 38"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080417"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080418 obo:IAO_0000115 "A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617391"^^xsd:string ; oboInOwl:hasExactSynonym "DEE54"^^xsd:string, "early infantile epileptic encephalopathy 54"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080418"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080419 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:13621"^^xsd:string, "OMIM:616457"^^xsd:string, "ORDO:448010"^^xsd:string ; oboInOwl:hasExactSynonym "CDG syndrome type Iz"@en, "CDG-Iz"@en, "Carbohydrate deficient glycoprotein syndrome type Iz"@en, "Congenital disorder of glycosylation type 1z"@en, "DEE50"^^xsd:string, "early infantile epileptic encephalopathy 50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080419"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080420 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617938"^^xsd:string ; oboInOwl:hasExactSynonym "DEE62"^^xsd:string, "early infantile epileptic encephalopathy 62"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080420"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080421 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613721"^^xsd:string ; oboInOwl:hasExactSynonym "DEE11"^^xsd:string, "early infantile epileptic encephalopathy 11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080421"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080422 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060171"^^xsd:string ; oboInOwl:hasDbXref "GARD:10430"^^xsd:string, "OMIM:607208"^^xsd:string, "ORDO:33069"^^xsd:string ; oboInOwl:hasExactSynonym "DEE6"^^xsd:string, "developmental and epileptic encephalopathy 6"^^xsd:string, "early infantile epileptic encephalopathy 6"@en, "severe myoclonic epilepsy of infancy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080422"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Dravet syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080423 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080423"^^xsd:string ; a owl:Class ; rdfs:label "obsolete early infantile epileptic encephalopathy 39"^^xsd:string ; owl:deprecated true . obo:DOID_0080424 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617132"^^xsd:string ; oboInOwl:hasExactSynonym "DEE44"^^xsd:string, "early infantile epileptic encephalopathy 44"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080424"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080425 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617166"^^xsd:string ; oboInOwl:hasExactSynonym "DEE47"^^xsd:string, "early infantile epileptic encephalopathy 47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080425"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080426 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617976"^^xsd:string ; oboInOwl:hasExactSynonym "DEE63"^^xsd:string, "early infantile epileptic encephalopathy 63"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080426"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080427 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617065"^^xsd:string ; oboInOwl:hasExactSynonym "DEE40"^^xsd:string, "early infantile epileptic encephalopathy 40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080427"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080428 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617153"^^xsd:string ; oboInOwl:hasExactSynonym "DEE45"^^xsd:string, "early infantile epileptic encephalopathy 45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080428"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080429 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615871"^^xsd:string ; oboInOwl:hasExactSynonym "DEE24"^^xsd:string, "early infantile epileptic encephalopathy 24"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080429"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080430 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618008"^^xsd:string ; oboInOwl:hasExactSynonym "DEE65"^^xsd:string, "early infantile epileptic encephalopathy 65"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080430"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080431 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615744"^^xsd:string ; oboInOwl:hasExactSynonym "DEE19"^^xsd:string, "early infantile epileptic encephalopathy 19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080431"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080432 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617929"^^xsd:string ; oboInOwl:hasExactSynonym "DEE60"^^xsd:string, "early infantile epileptic encephalopathy 60"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080432"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 60"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080433 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617339"^^xsd:string ; oboInOwl:hasExactSynonym "DEE51"^^xsd:string, "early infantile epileptic encephalopathy 51"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080433"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080434 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617933"^^xsd:string ; oboInOwl:hasExactSynonym "DEE61"^^xsd:string, "early infantile epileptic encephalopathy 61"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080434"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080435 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616981"^^xsd:string ; oboInOwl:hasExactSynonym "DEE37"^^xsd:string, "early infantile epileptic encephalopathy 37"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080435"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080436 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612164"^^xsd:string ; oboInOwl:hasExactSynonym "DEE4"^^xsd:string, "early infantile epileptic encephalopathy 4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080436"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080437 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616346"^^xsd:string ; oboInOwl:hasExactSynonym "DEE31"^^xsd:string, "early infantile epileptic encephalopathy 31"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080437"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080438 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613477"^^xsd:string ; oboInOwl:hasExactSynonym "DEE5"^^xsd:string, "early infantile epileptic encephalopathy 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080438"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080439 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614959"^^xsd:string ; oboInOwl:hasExactSynonym "DEE14"^^xsd:string, "early infantile epileptic encephalopathy 14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080439"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080440 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609304"^^xsd:string ; oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080440"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080441 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617281"^^xsd:string ; oboInOwl:hasExactSynonym "DEE49"^^xsd:string, "early infantile epileptic encephalopathy 49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080441"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080442 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617105"^^xsd:string ; oboInOwl:hasExactSynonym "DEE41"^^xsd:string, "early infantile epileptic encephalopathy 41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080442"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080443 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615833"^^xsd:string ; oboInOwl:hasExactSynonym "DEE21"^^xsd:string, "early infantile epileptic encephalopathy 21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080443"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080444 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616139"^^xsd:string ; oboInOwl:hasExactSynonym "DEE27"^^xsd:string, "early infantile epileptic encephalopathy 27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080444"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080445 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614558"^^xsd:string ; oboInOwl:hasExactSynonym "DEE13"^^xsd:string, "early infantile epileptic encephalopathy 13"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080445"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080446 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618067"^^xsd:string ; oboInOwl:hasExactSynonym "DEE66"^^xsd:string, "early infantile epileptic encephalopathy 66"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080446"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080447 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617113"^^xsd:string ; oboInOwl:hasExactSynonym "DEE43"^^xsd:string, "early infantile epileptic encephalopathy 43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080447"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080448 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617276"^^xsd:string ; oboInOwl:hasExactSynonym "DEE48"^^xsd:string, "early infantile epileptic encephalopathy 48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080448"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080449 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615338"^^xsd:string, "ORDO:352596"^^xsd:string ; oboInOwl:hasExactSynonym "DEE16"^^xsd:string, "early infantile epileptic encephalopathy 16"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080449"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080450 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615473"^^xsd:string ; oboInOwl:hasExactSynonym "DEE17"^^xsd:string, "early infantile epileptic encephalopathy 17"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080450"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080451 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616339"^^xsd:string ; oboInOwl:hasExactSynonym "DEE29"^^xsd:string, "early infantile epileptic encephalopathy 29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080451"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080452 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616211"^^xsd:string ; oboInOwl:hasExactSynonym "DEE28"^^xsd:string, "early infantile epileptic encephalopathy 28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080452"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080453 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12901"^^xsd:string, "OMIM:615905"^^xsd:string ; oboInOwl:hasExactSynonym "DEE25"^^xsd:string, "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta"^^xsd:string, "early infantile epileptic encephalopathy 25"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080453"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080454 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617106"^^xsd:string ; oboInOwl:hasExactSynonym "DEE42"^^xsd:string, "early infantile epileptic encephalopathy 42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080454"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080455 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617350"^^xsd:string ; oboInOwl:hasExactSynonym "DEE52"^^xsd:string, "early infantile epileptic encephalopathy 52"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080455"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080456 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617162"^^xsd:string ; oboInOwl:hasExactSynonym "DEE46"^^xsd:string, "early infantile epileptic encephalopathy 46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080456"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080457 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613402"^^xsd:string ; oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 10"^^xsd:string, "early infantile epileptic encephalopathy 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080457"^^xsd:string ; a owl:Class ; rdfs:label "microcephaly, seizures, and developmental delay"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080458 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616647"^^xsd:string, "ORDO:457375"^^xsd:string ; oboInOwl:hasExactSynonym "DEE35"^^xsd:string, "ITPA-related encephalopathy"@en, "early infantile epileptic encephalopathy 35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080458"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080459 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613722"^^xsd:string ; oboInOwl:hasExactSynonym "DEE12"^^xsd:string, "early infantile epileptic encephalopathy 12"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080459"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080460 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616645"^^xsd:string ; oboInOwl:hasExactSynonym "DEE34"^^xsd:string, "early infantile epileptic encephalopathy 34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080460"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080461 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12391"^^xsd:string, "OMIM:616056"^^xsd:string ; oboInOwl:hasExactSynonym "DEE26"^^xsd:string, "early infantile epileptic encephalopathy 26"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080461"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080462 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613720"^^xsd:string, "ORDO:439218"^^xsd:string ; oboInOwl:hasExactSynonym "KCNQ2-related epileptic encephalopathy"@en, "KCNQ2-related neonatal epileptic encephalopathy"@en, "early infantile epileptic encephalopathy 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080462"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080463 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616409"^^xsd:string ; oboInOwl:hasExactSynonym "DEE33"^^xsd:string, "early infantile epileptic encephalopathy 33"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080463"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080464 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617389"^^xsd:string ; oboInOwl:hasExactSynonym "DEE53"^^xsd:string, "early infantile epileptic encephalopathy 53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080464"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080465 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616341"^^xsd:string ; oboInOwl:hasExactSynonym "DEE30"^^xsd:string, "early infantile epileptic encephalopathy 30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080465"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080466 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080466"^^xsd:string ; a owl:Class ; rdfs:label "obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0080467 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300672"^^xsd:string ; oboInOwl:hasExactSynonym "DEE2"^^xsd:string, "EIEE2"^^xsd:string, "X-linked infantile spasm syndrome 2"@en, "early infantile epileptic encephalopathy 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080467"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080468 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:308350"^^xsd:string ; oboInOwl:hasExactSynonym "DEE1"^^xsd:string, "X-linked infantile spasm syndrome 1"@en, "early infantile epileptic encephalopathy 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080468"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080469 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080469"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital disorder of glycosylation type 2m"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_0080470 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "GARD:12401"^^xsd:string, "OMIM:300884"^^xsd:string, "ORDO:324422"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type Is"^^xsd:string, "early infantile epileptic encephalopathy 36"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080470"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080471 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617829"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080471"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 92"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080472 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617711"^^xsd:string ; oboInOwl:hasExactSynonym "infantile or early childhood epileptic encephalopathy 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080472"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 91"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080473 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617836"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080473"^^xsd:string ; a owl:Class ; rdfs:label "developmental delay and seizures with or without movement abnormalities"^^xsd:string ; rdfs:subClassOf obo:DOID_0050888 . obo:DOID_0080474 obo:IAO_0000115 "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L40.1"^^xsd:string, "OMIM:614204"^^xsd:string, "ORDO:404546"^^xsd:string ; oboInOwl:hasExactSynonym "acrodermatitis continua of Hallopeau"^^xsd:string, "deficiency of IL-36R antagonist"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080474"^^xsd:string ; a owl:Class ; rdfs:label "pustular psoriasis 14"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0080475 obo:IAO_0000115 "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080475"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0080476 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214100"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 1A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080476"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080477 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214110"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 2A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080477"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080478 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614859"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 3A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080478"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080479 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614862"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 4A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080479"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080480 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614866"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 5A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080480"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 5A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080481 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614870"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 6A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080481"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 6A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080482 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614872"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 7A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080482"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 7A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080483 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614876"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 8A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080483"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 8A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080484 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614882"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 10A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080484"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 10A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080485 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614883"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 11A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080485"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 11A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080486 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614886"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 12A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080486"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 12A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080487 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614887"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 13A (Zellweger)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080487"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 13A"^^xsd:string ; rdfs:subClassOf obo:DOID_0080377 . obo:DOID_0080488 obo:IAO_0000115 "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080488"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis"@en ; rdfs:subClassOf obo:DOID_9455 . obo:DOID_0080489 obo:IAO_0000115 "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years."^^xsd:string ; oboInOwl:hasDbXref "GARD:2431"^^xsd:string, "OMIM:230650"^^xsd:string, "ORDO:79257"^^xsd:string ; oboInOwl:hasExactSynonym "adult-onset GM1 gangliosidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080489"^^xsd:string ; a owl:Class ; rdfs:label "GM1 gangliosidosis type 3"@en ; rdfs:subClassOf obo:DOID_3322, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080490 obo:IAO_0000115 "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time."^^xsd:string ; oboInOwl:hasDbXref "GARD:94"^^xsd:string, "OMIM:252650"^^xsd:string, "ORDO:578"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080490"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis type IV"@en ; rdfs:subClassOf obo:DOID_0080488 . obo:DOID_0080491 obo:IAO_0000115 "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:116860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080491"^^xsd:string ; a owl:Class ; rdfs:label "cerebral cavernous malformation 1"@en ; rdfs:subClassOf obo:DOID_0060669 . obo:DOID_0080492 obo:IAO_0000115 "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit."^^xsd:string ; oboInOwl:hasDbXref "ORDO:99843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080492"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte adhesion deficiency 2"@en ; rdfs:subClassOf obo:DOID_6612 . obo:DOID_0080493 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080493"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080494 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300510"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080494"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 2"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080495 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614324"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080495"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080496 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616185"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080496"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080497 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080497"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080498 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618078"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080498"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 6"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080499 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618117"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080499"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080500 obo:IAO_0000115 "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618187"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080500"^^xsd:string ; a owl:Class ; rdfs:label "ovarian dysgenesis 8"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14450, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080501 obo:IAO_0000115 "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age."^^xsd:string ; oboInOwl:hasDbXref "OMIM:230600"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile GM1 gangliosidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080501"^^xsd:string ; a owl:Class ; rdfs:label "GM1 gangliosidosis type 2"@en ; rdfs:subClassOf obo:DOID_3322 . obo:DOID_0080502 obo:IAO_0000115 "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death."^^xsd:string ; oboInOwl:hasDbXref "GARD:6479"^^xsd:string, "OMIM:230500"^^xsd:string, "ORDO:79255"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080502"^^xsd:string ; a owl:Class ; rdfs:label "GM1 gangliosidosis type 1"@en ; rdfs:subClassOf obo:DOID_3322, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0080503 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS614080"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080503"^^xsd:string ; a owl:Class ; rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080504 obo:IAO_0000115 "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616710"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant Parkinson's disease 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080504"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 22"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080505 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080505"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080506 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300590"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080506"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080507 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610759"^^xsd:string ; oboInOwl:hasExactSynonym "CDLS3"^^xsd:string, "Cornelia De Lange syndrome 3 with or without midline brain defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080507"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080508 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614701"^^xsd:string ; oboInOwl:hasExactSynonym "CDLS4"^^xsd:string, "Cornelia De Lange syndrome 4 with or without midline brain defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080508"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080509 obo:IAO_0000115 "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080509"^^xsd:string ; a owl:Class ; rdfs:label "Cornelia de Lange syndrome 5"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_11725, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080510 obo:IAO_0000115 "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "OMIM:131800"^^xsd:string ; oboInOwl:hasExactSynonym "epidermolysis bullosa simplex Weber-Cockayne type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080510"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex localized type"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080511 obo:IAO_0000115 "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy."^^xsd:string ; oboInOwl:hasDbXref "OMIM:131900"^^xsd:string ; oboInOwl:hasExactSynonym "epidermolysis bullosa simplex Koebner type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080511"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex generalized type"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080512 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080512"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080513 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080513"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080514 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613803"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080514"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080515 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613804"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080515"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080516 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613805"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080516"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080517 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616835"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080517"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 6"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080518 obo:IAO_0000115 "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617063"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080518"^^xsd:string ; a owl:Class ; rdfs:label "Meier-Gorlin syndrome 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060306, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080519 obo:IAO_0000115 "A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604416"^^xsd:string, "ORDO:69126"^^xsd:string ; oboInOwl:hasExactSynonym "pyogenic arthritis, pyoderma gangrenosum and acne"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080519"^^xsd:string ; a owl:Class ; rdfs:label "PAPA syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080520 obo:IAO_0000115 "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300622"^^xsd:string ; oboInOwl:hasExactSynonym "galactosyltransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080520"^^xsd:string ; a owl:Class ; rdfs:label "Tn polyagglutination syndrome"@en ; rdfs:subClassOf obo:DOID_74 . obo:DOID_0080521 obo:IAO_0000115 "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C135017"^^xsd:string ; oboInOwl:hasExactSynonym "non- squamous NSCLC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080521"^^xsd:string ; a owl:Class ; rdfs:label "lung non-squamous non-small cell carcinoma"@en ; rdfs:subClassOf obo:DOID_3908 . obo:DOID_0080522 obo:IAO_0000115 "A thyroid gland carcinoma that is composed of undifferentiated cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3878"^^xsd:string ; oboInOwl:hasExactSynonym "anaplastic thyroid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080522"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "thyroid gland anaplastic carcinoma"@en ; rdfs:subClassOf obo:DOID_3963 . obo:DOID_0080523 obo:IAO_0000115 "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10981"^^xsd:string, "OMIM:221820"^^xsd:string, "ORDO:313808"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary diffuse leukoencephalopathy with spheroids"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080523"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0080524 obo:IAO_0000115 "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27380"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080524"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid gland adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_299, obo:DOID_3963, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_0080525 obo:IAO_0000115 "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7153"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080525"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "differentiated thyroid gland carcinoma"@en ; rdfs:subClassOf obo:DOID_0080524 . obo:DOID_0080526 obo:IAO_0000115 "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:211400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080526"^^xsd:string ; a owl:Class ; rdfs:label "bronchiectasis 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9563, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080527 obo:IAO_0000115 "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613021"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080527"^^xsd:string ; a owl:Class ; rdfs:label "bronchiectasis 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9563, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080528 obo:IAO_0000115 "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613071"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080528"^^xsd:string ; a owl:Class ; rdfs:label "bronchiectasis 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9563, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080530 obo:IAO_0000115 "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface."^^xsd:string ; oboInOwl:hasDbXref "OMIM:121900"^^xsd:string ; oboInOwl:hasExactSynonym "corneal dystrophy, Groenouw type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080530"^^xsd:string ; a owl:Class ; rdfs:label "granular corneal dystrophy 1"@en ; rdfs:subClassOf obo:DOID_12318, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080531 obo:IAO_0000115 "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells."^^xsd:string ; oboInOwl:hasDbXref "ICDO:M8858/3"^^xsd:string, "NCI:C3704"^^xsd:string, "ORDO:99970"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080531"^^xsd:string ; a owl:Class ; rdfs:label "dedifferentiated liposarcoma"@en ; rdfs:subClassOf obo:DOID_3382 . obo:DOID_0080532 obo:IAO_0000115 "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex)."^^xsd:string ; oboInOwl:hasDbXref "ORDO:466962"^^xsd:string ; oboInOwl:hasExactSynonym "SMARCA4-DTS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080532"^^xsd:string ; a owl:Class ; rdfs:label "Smarca4-deficient sarcoma of thorax"@en ; rdfs:subClassOf obo:DOID_5093 . obo:DOID_0080533 obo:IAO_0000115 "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors."^^xsd:string ; oboInOwl:hasDbXref "GARD:10643"^^xsd:string, "OMIM:606864"^^xsd:string, "ORDO:97286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080533"^^xsd:string ; a owl:Class ; rdfs:label "Carney-Stratakis syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080534 obo:IAO_0000115 "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6496"^^xsd:string, "ORDO:79105"^^xsd:string ; oboInOwl:hasExactSynonym "fibromyxoid sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080534"^^xsd:string ; a owl:Class ; rdfs:label "myxofibrosarcoma"@en ; rdfs:subClassOf obo:DOID_1115 . obo:DOID_0080535 obo:IAO_0000115 "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS613280"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080535"^^xsd:string ; a owl:Class ; rdfs:label "hypermanganesemia with dystonia"@en ; rdfs:subClassOf obo:DOID_896 . obo:DOID_0080536 obo:IAO_0000115 "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613280"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080536"^^xsd:string ; a owl:Class ; rdfs:label "hypermanganesemia with dystonia 1"@en ; rdfs:subClassOf obo:DOID_0080535, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ] . obo:DOID_0080537 obo:IAO_0000115 "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617013"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080537"^^xsd:string ; a owl:Class ; rdfs:label "hypermanganesemia with dystonia 2"@en ; rdfs:subClassOf obo:DOID_0080535 . obo:DOID_0080538 obo:IAO_0000115 "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617746"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080538"^^xsd:string ; a owl:Class ; rdfs:label "Sweeney-Cox syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080539 obo:IAO_0000115 "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:4264"^^xsd:string, "OMIM:260565"^^xsd:string, "ORDO:2836"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080539"^^xsd:string ; a owl:Class ; rdfs:label "PEHO syndrome"@en ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0080540 obo:IAO_0000115 "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:3953"^^xsd:string, "OMIM:256540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080540"^^xsd:string ; a owl:Class ; rdfs:label "galactosialidosis"@en ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_0080541 obo:IAO_0000115 "An amno acid metabolic disorder that is characterized by the excess of proline in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:2847"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080541"^^xsd:string ; a owl:Class ; rdfs:label "hyperprolinemia"@en ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0080542 obo:IAO_0000115 "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:239500"^^xsd:string, "ORDO:419"^^xsd:string ; oboInOwl:hasExactSynonym "hyperprolinemia type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080542"^^xsd:string ; a owl:Class ; rdfs:label "hyperprolinemia type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080541, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080543 obo:IAO_0000115 "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:239510"^^xsd:string, "ORDO:79101"^^xsd:string ; oboInOwl:hasExactSynonym "hyperprolinemia type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080543"^^xsd:string ; a owl:Class ; rdfs:label "hyperprolinemia type 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080541, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080544 obo:IAO_0000115 "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3990"^^xsd:string, "OMIM:PS308230"^^xsd:string ; oboInOwl:hasExactSynonym "immunodeficiency with hyper-IgM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080544"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgM syndrome"@en ; rdfs:subClassOf obo:DOID_2959 . obo:DOID_0080545 obo:IAO_0000115 "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:10956"^^xsd:string, "OMIM:PS147060"^^xsd:string ; oboInOwl:hasExactSynonym "hyper immunoglobulin E syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080545"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE syndrome"@en ; rdfs:subClassOf obo:DOID_2959 . obo:DOID_0080546 obo:IAO_0000115 "A nonalcoholic fatty liver disease that is characterized by the presence of at least 5% of hepatic steatosis with no evidence of hepatocellular injury in the form of hepatocyte ballooning."^^xsd:string ; oboInOwl:hasExactSynonym "NAFL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080546"^^xsd:string ; a owl:Class ; rdfs:label "non-alcoholic fatty liver"@en ; rdfs:subClassOf obo:DOID_0080208 . obo:DOID_0080547 obo:IAO_0000115 "A nonalcoholic fatty liver disease that is characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without any fibrosis."^^xsd:string ; oboInOwl:hasExactSynonym "NASH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080547"^^xsd:string ; a owl:Class ; rdfs:label "non-alcoholic steatohepatitis"@en ; rdfs:subClassOf obo:DOID_0080208, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ] . obo:DOID_0080548 obo:IAO_0000115 "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:151100"^^xsd:string ; oboInOwl:hasExactSynonym "LEOPARD syndrome 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080548"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome with multiple lentigines 1"@en ; rdfs:subClassOf obo:DOID_14291 . obo:DOID_0080549 obo:IAO_0000115 "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611554"^^xsd:string ; oboInOwl:hasExactSynonym "LEOPARD syndrome 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080549"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome with multiple lentigines 2"@en ; rdfs:subClassOf obo:DOID_14291 . obo:DOID_0080550 obo:IAO_0000115 "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613707"^^xsd:string ; oboInOwl:hasExactSynonym "LEOPARD syndrome 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080550"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome with multiple lentigines 3"@en ; rdfs:subClassOf obo:DOID_14291 . obo:DOID_0080551 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9795"^^xsd:string, "OMIM:601214"^^xsd:string, "ORDO:34217"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080551"^^xsd:string ; a owl:Class ; rdfs:label "Naxos disease"@en ; rdfs:subClassOf obo:DOID_0050428 . obo:DOID_0080552 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9826"^^xsd:string, "OMIM:212065"^^xsd:string, "ORDO:79318"^^xsd:string ; oboInOwl:hasExactSynonym "PMM2-congenital disorder of glycosylation"@en, "congenital disorder of glycosylation 1a"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080552"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080553 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617082"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1aa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080553"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iaa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080554 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9830"^^xsd:string, "OMIM:602579"^^xsd:string, "ORDO:79319"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1b"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080554"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ib"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080555 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "GARD:9829"^^xsd:string, "OMIM:603147"^^xsd:string, "ORDO:79320"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1c"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080555"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ic"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080556 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:9827"^^xsd:string, "OMIM:601110"^^xsd:string, "ORDO:79321"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1d"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080556"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Id"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080557 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9831"^^xsd:string, "OMIM:608799"^^xsd:string, "ORDO:79322"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1e"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080557"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ie"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080558 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9832"^^xsd:string, "OMIM:609180"^^xsd:string, "ORDO:79323"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1f"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080558"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation If"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080559 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9833"^^xsd:string, "OMIM:607143"^^xsd:string, "ORDO:79324"^^xsd:string ; oboInOwl:hasExactSynonym "ALG12-congenital disorder of glycosylation"@en, "congenital disorder of glycosylation 1g"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080559"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ig"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080560 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:9834"^^xsd:string, "OMIM:608104"^^xsd:string, "ORDO:79325"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1h"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080560"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ih"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000526 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080561 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:9836"^^xsd:string, "OMIM:607906"^^xsd:string, "ORDO:79326"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1i"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080561"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ii"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080562 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:9837"^^xsd:string, "OMIM:608093"^^xsd:string, "ORDO:86309"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital disorder of glycosylation 1j"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080562"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ij"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080563 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9838"^^xsd:string, "OMIM:608540"^^xsd:string, "ORDO:79327"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1k"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080563"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ik"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080564 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:9839"^^xsd:string, "OMIM:608776"^^xsd:string, "ORDO:79328"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1l"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080564"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Il"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080565 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:12393"^^xsd:string, "OMIM:610768"^^xsd:string, "ORDO:91131"^^xsd:string ; oboInOwl:hasExactSynonym "DOLK-congenital disorder of glycosylation"@en, "congenital disorder of glycosylation 1m"@en, "dolichol kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080565"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Im"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080566 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:12394"^^xsd:string, "OMIM:612015"^^xsd:string, "ORDO:244310"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1n"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080566"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation In"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080567 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:12396"^^xsd:string, "OMIM:613661"^^xsd:string, "ORDO:280071"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1p"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080567"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ip"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080568 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:12397"^^xsd:string, "OMIM:612379"^^xsd:string, "ORDO:324737"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080568"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iq"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000505 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000609 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000612 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000639 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001251 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001252 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001272 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0006817 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0007431 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080569 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:12398"^^xsd:string, "OMIM:614507"^^xsd:string, "ORDO:300536"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1r"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080569"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ir"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080570 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614921"^^xsd:string, "ORDO:319646"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1t"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080570"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation It"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080571 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:12416"^^xsd:string, "OMIM:615042"^^xsd:string, "ORDO:329178"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1u"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080571"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iu"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080572 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615596"^^xsd:string, "ORDO:370921"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1w"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080572"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iw"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080573 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615597"^^xsd:string, "ORDO:370924"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1x"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080573"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Ix"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080574 obo:IAO_0000115 "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:12405"^^xsd:string, "OMIM:300934"^^xsd:string, "ORDO:370927"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation 1y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080574"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Iy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080575 obo:IAO_0000115 "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:245600"^^xsd:string, "ORDO:284139"^^xsd:string ; oboInOwl:hasExactSynonym "Larsen-like syndrome, B3GAT3 type"@en, "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080575"^^xsd:string ; a owl:Class ; rdfs:label "Larsen-like syndrome B3GAT3 type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080576 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10057"^^xsd:string, "OMIM:610442"^^xsd:string, "ORDO:168454"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080576"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, Genevieve-type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080577 obo:IAO_0000115 "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080577"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim ; a owl:Class ; rdfs:label "polygenic disease"@en ; rdfs:subClassOf obo:DOID_630 . obo:DOID_0080578 obo:IAO_0000115 "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080578"^^xsd:string ; a owl:Class ; rdfs:label "digenic disease"@en ; rdfs:subClassOf obo:DOID_0080577 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] ) ] . obo:DOID_0080579 obo:IAO_0000115 "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:210200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080579"^^xsd:string ; a owl:Class ; rdfs:label "3-Methylcrotonyl-CoA carboxylase 1 deficiency"@en ; rdfs:subClassOf obo:DOID_0050710 . obo:DOID_0080580 obo:IAO_0000115 "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:210210"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080580"^^xsd:string ; a owl:Class ; rdfs:label "3-Methylcrotonyl-CoA carboxylase 2 deficiency"@en ; rdfs:subClassOf obo:DOID_0050710 . obo:DOID_0080581 obo:IAO_0000115 "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080581"^^xsd:string ; a owl:Class ; rdfs:label "hyperekplexia 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060695, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080582 obo:IAO_0000115 "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618275"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080582"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 14"@en ; rdfs:subClassOf obo:DOID_4535 . obo:DOID_0080583 obo:IAO_0000115 "A Wolfram syndrome that has_material_basis_in mutation in mtDNA."^^xsd:string ; oboInOwl:hasDbXref "OMIM:598500"^^xsd:string ; oboInOwl:hasExactSynonym "DIDMOAD, mitochondrial form"@en, "diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080583"^^xsd:string ; a owl:Class ; rdfs:label "Wolfram syndrome, mitochondrial form"@en ; rdfs:subClassOf obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000949 ] . obo:DOID_0080584 obo:IAO_0000115 "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614296"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080584"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Wolfram syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080585 obo:IAO_0000115 "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080585"^^xsd:string ; a owl:Class ; rdfs:label "Van Maldergem syndrome 1"@en ; rdfs:subClassOf obo:DOID_0060238 . obo:DOID_0080586 obo:IAO_0000115 "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615546"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080586"^^xsd:string ; a owl:Class ; rdfs:label "Van Maldergem syndrome 2"@en ; rdfs:subClassOf obo:DOID_0060238 . obo:DOID_0080587 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080587"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 22"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080588 obo:IAO_0000115 "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613506"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080588"^^xsd:string ; a owl:Class ; rdfs:label "agammaglobulinemia 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2583, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080589 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:118100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080589"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080590 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080590"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080591 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080591"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080592 obo:IAO_0000115 "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616549"^^xsd:string, "ORDO:447974"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080592"^^xsd:string ; a owl:Class ; rdfs:label "Klippel-Feil syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080593 obo:IAO_0000115 "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608864"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080593"^^xsd:string ; a owl:Class ; rdfs:label "orofacial cleft 6"@en ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080594 obo:IAO_0000115 "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24."^^xsd:string ; oboInOwl:hasDbXref "GARD:2816"^^xsd:string, "OMIM:243700"^^xsd:string, "ORDO:217390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080594"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE recurrent infection syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080545, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080595 obo:IAO_0000115 "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618282"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080595"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE recurrent infection syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080545, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080596 obo:IAO_0000115 "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618523"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080596"^^xsd:string ; a owl:Class ; rdfs:label "hyper IgE recurrent infection syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080545, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080597 obo:IAO_0000115 "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS610253"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080597"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "Kleefstra syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080598 obo:IAO_0000115 "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617768"^^xsd:string, "ORDO:261652"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080598"^^xsd:string ; a owl:Class ; rdfs:label "Kleefstra syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080597, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080599 obo:IAO_0000115 "A viral infectious disease that has_material_basis_in Coronavirus."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080599"^^xsd:string ; a owl:Class ; rdfs:label "Coronavirus infectious disease"@en ; rdfs:subClassOf obo:DOID_934 . obo:DOID_0080600 obo:IAO_0000115 "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:U07.1"^^xsd:string, "MESH:D000086382"^^xsd:string, "NCI:C171133"^^xsd:string, "SNOMEDCT_US_2021_03_01:840539006"^^xsd:string, "UMLS_CUI:C5203670"^^xsd:string ; oboInOwl:hasExactSynonym "2019 Novel Coronavirus (2019-nCoV)"@en, "2019-nCoV infection"@en, "COVID19"^^xsd:string, "SARS-CoV-2 infection"^^xsd:string, "Wuhan coronavirus infection"@en, "Wuhan seafood market pneumonia virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080600"^^xsd:string ; a owl:Class ; rdfs:label "COVID-19"@en ; rdfs:subClassOf obo:DOID_0080599, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000008 obo:TRANS_0000009 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000613 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] . obo:DOID_0080601 obo:IAO_0000115 "A benign neoplasm that derives_from germ cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080601"^^xsd:string ; a owl:Class ; rdfs:label "germ cell benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060084 . obo:DOID_0080602 obo:IAO_0000115 "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9080/1"^^xsd:string, "NCI:C67107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080602"^^xsd:string ; a owl:Class ; rdfs:label "benign teratoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080601 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000924 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000925 ] [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:UBERON_0000926 ] ) ] ) ] . obo:DOID_0080603 obo:IAO_0000115 "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:106300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080603"^^xsd:string ; a owl:Class ; rdfs:label "ankylosing spondylitis 1"@en ; rdfs:subClassOf obo:DOID_7147 . obo:DOID_0080604 obo:IAO_0000115 "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:183840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080604"^^xsd:string ; a owl:Class ; rdfs:label "ankylosing spondylitis 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_7147, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080605 obo:IAO_0000115 "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613238"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080605"^^xsd:string ; a owl:Class ; rdfs:label "ankylosing spondylitis 3"@en ; rdfs:subClassOf obo:DOID_7147 . obo:DOID_0080606 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:107250"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080606"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080607 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610256"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080607"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080608 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601631"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080608"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080609 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080609"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080610 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604229"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080610"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 5"@en ; rdfs:subClassOf obo:DOID_0060648 . obo:DOID_0080611 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080611"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 6"@en ; rdfs:subClassOf obo:DOID_0060648 . obo:DOID_0080612 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:269400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080612"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 7"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080613 obo:IAO_0000115 "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080613"^^xsd:string ; a owl:Class ; rdfs:label "anterior segment dysgenesis 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060648, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080614 obo:IAO_0000115 "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of SLC24A5 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080614"^^xsd:string ; a owl:Class ; rdfs:label "oculocutaneous albinism type VI"@en ; rdfs:subClassOf obo:DOID_0050632 . obo:DOID_0080615 obo:IAO_0000115 "A kidney benign neoplasm that is located_in the kidney cortex."^^xsd:string ; oboInOwl:hasExactSynonym "benign nephroma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080615"^^xsd:string ; a owl:Class ; rdfs:label "nephroma"@en ; rdfs:subClassOf obo:DOID_0080616, obo:DOID_3116 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001851 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] ) ] . obo:DOID_0080616 obo:IAO_0000115 "A kidney disease that is located_in the kidney cortex."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080616"^^xsd:string ; a owl:Class ; rdfs:label "kidney cortex disease"@en ; rdfs:subClassOf obo:DOID_557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001851 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] ) ] . obo:DOID_0080617 obo:IAO_0000115 "An immune system organ benign neoplasm that is located_in the lymph nodes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3636"^^xsd:string, "SNOMEDCT_US_2020_03_01:92197001"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080617"^^xsd:string ; a owl:Class ; rdfs:label "lymph node benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060092, obo:DOID_9942 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] ) ] . obo:DOID_0080618 obo:IAO_0000115 "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080618"^^xsd:string ; a owl:Class ; rdfs:label "lymph node carcinoma"@en ; rdfs:subClassOf obo:DOID_10619, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_0080619 obo:IAO_0000115 "A sensory system benign neoplasm that is located in the auditory system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8417"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080619"^^xsd:string ; a owl:Class ; rdfs:label "auditory system benign neoplasm"@en ; rdfs:subClassOf obo:DOID_0060096, obo:DOID_2742 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016490 ] ) ] . obo:DOID_0080620 obo:IAO_0000115 "An adrenal cortex disease that is characterized by insufficent production of glucocorticoids."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS202200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080620"^^xsd:string ; a owl:Class ; rdfs:label "familial glucocorticoid deficiency"@en ; rdfs:subClassOf obo:DOID_9553 . obo:DOID_0080621 obo:IAO_0000115 "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:202200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080621"^^xsd:string ; a owl:Class ; rdfs:label "glucocorticoid deficiency 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080620, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080622 obo:IAO_0000115 "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:202370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080622"^^xsd:string ; a owl:Class ; rdfs:label "peroxisome biogenesis disorder 2B"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080623 obo:IAO_0000115 "A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasBroadSynonym "Deafness-enamel hypoplasia-nail defects syndrome"^^xsd:string ; oboInOwl:hasDbXref "OMIM:234580"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisomal biogenesis disorder 1C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080623"^^xsd:string ; a owl:Class ; rdfs:label "Heimler syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080624 obo:IAO_0000115 "A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616617"^^xsd:string ; oboInOwl:hasExactSynonym "peroxisomal biogenesis disorder 4C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080624"^^xsd:string ; a owl:Class ; rdfs:label "Heimler syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080625 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:202700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080625"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 1"@en ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080626 obo:IAO_0000115 "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203400"^^xsd:string, "ORDO:427"^^xsd:string ; oboInOwl:hasExactSynonym "aldosterone synthase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080626"^^xsd:string ; a owl:Class ; rdfs:label "corticosterone methyloxidase deficiency 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9553, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080627 obo:IAO_0000115 "A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:612"^^xsd:string, "OMIM:PS203650"^^xsd:string, "ORDO:2850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080627"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080628 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:203650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080628"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080629 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in linkage to chromosome 3q26.2-q26.31 locus APMR2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610422"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080629"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080630 obo:IAO_0000115 "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7061"^^xsd:string ; oboInOwl:hasDbXref "ICDO:9836/3"^^xsd:string, "NCI:C8936"^^xsd:string, "UMLS_CUI:C0862030"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL"^^xsd:string, "precursor B lymphoblastic lymphoma/leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080630"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma"@en ; rdfs:subClassOf obo:DOID_0080638 . obo:DOID_0080631 obo:IAO_0000115 "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:955"^^xsd:string, "OMIM:211380"^^xsd:string, "ORDO:1299"^^xsd:string ; oboInOwl:hasExactSynonym "branchioskeletogenital syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080631"^^xsd:string ; a owl:Class ; rdfs:label "Elsahy-Waters syndrome"@en ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0080632 obo:IAO_0000115 "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:211500"^^xsd:string ; oboInOwl:hasExactSynonym "riboflavin transporter deficiency neuronopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080632"^^xsd:string ; a owl:Class ; rdfs:label "Fazio-Londe disease"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_681, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080633 obo:IAO_0000115 "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:212093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080633"^^xsd:string ; a owl:Class ; rdfs:label "developmental cardiac valvular defect"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080634 obo:IAO_0000115 "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600165"^^xsd:string, "OMIM:609549"^^xsd:string, "OMIM:611897"^^xsd:string, "OMIM:615972"^^xsd:string, "OMIM:PS600165"^^xsd:string, "ORDO:35612"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080634"^^xsd:string ; a owl:Class ; rdfs:label "nanophthalmos"@en ; rdfs:subClassOf obo:DOID_10629 . obo:DOID_0080635 obo:IAO_0000115 "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:212550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080635"^^xsd:string ; a owl:Class ; rdfs:label "optic disc anomalies with retinal and/or macular dystrophy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10629, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080636 obo:IAO_0000115 "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS309800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080636"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia"@en ; rdfs:subClassOf obo:DOID_10629 . obo:DOID_0080637 obo:IAO_0000115 "A microphthalmia that occurs by itself."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080637"^^xsd:string ; a owl:Class ; rdfs:label "isolated microphthalmia"@en ; rdfs:subClassOf obo:DOID_10629 . obo:DOID_0080638 obo:IAO_0000115 "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8644"^^xsd:string ; oboInOwl:hasExactSynonym "B acute lymphoblastic leukemia"^^xsd:string, "B-cell acute lymphocytic leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080638"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-cell acute lymphoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_9952, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ] . obo:DOID_0080639 obo:IAO_0000115 "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080639"^^xsd:string ; a owl:Class ; rdfs:label "bone sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_184, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_0080640 obo:IAO_0000115 "A biliary tract benign neoplasm that is located_in the gallbladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080640"^^xsd:string ; a owl:Class ; rdfs:label "gallbladder benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_0060262, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_0080641 obo:IAO_0000115 "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080641"^^xsd:string ; a owl:Class ; rdfs:label "tongue carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_8649, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_0080642 obo:IAO_0000115 "A Coronavirus infection that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080642"^^xsd:string ; a owl:Class ; rdfs:label "Middle East respiratory syndrome"@en ; rdfs:subClassOf obo:DOID_0080599, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_0080643 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80331"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with BCR-ABL1"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080643"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with BCR-ABL1"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080644 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80342"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL KMT2A rearranged"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080644"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma KMT2A rearranged"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080645 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80343"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with ETV6-RUNX1"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080645"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080646 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80335"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with hyperdiploidy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080646"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with hyperdiploidy"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080647 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80338"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with hypodiploidy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080647"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with hypodiploidy"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080648 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80346"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with IL3-IGH"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080648"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with IL3-IGH"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080649 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1."^^xsd:string ; oboInOwl:hasDbXref "NCI:C80347"^^xsd:string ; oboInOwl:hasExactSynonym "B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)"^^xsd:string, "B-ALL with TCF3-PBX1"^^xsd:string, "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080649"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080650 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion."^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL BCR-ABL1–like"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080650"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080651 obo:IAO_0000115 "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21."^^xsd:string ; oboInOwl:hasDbXref "NCI:C130039"^^xsd:string ; oboInOwl:hasExactSynonym "B-ALL with iAMP21"^^xsd:string, "Intrachromosomal amplification of chromosome 21 (iAMP21)"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080651"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "B-lymphoblastic leukemia/lymphoma with iAMP21"@en ; rdfs:subClassOf obo:DOID_0080630 . obo:DOID_0080652 obo:IAO_0000115 "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:167030"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080652"^^xsd:string ; a owl:Class ; rdfs:label "calcium oxalate nephrolithiasis"@en ; rdfs:subClassOf obo:DOID_585 . obo:DOID_0080653 obo:IAO_0000115 "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080653"^^xsd:string ; a owl:Class ; rdfs:label "urolithiasis"@en ; rdfs:subClassOf obo:DOID_18 . obo:DOID_0080654 obo:IAO_0000115 "An urolithiasis in which the composition of the stones is predominantly urate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C123245"^^xsd:string, "OMIM:191700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080654"^^xsd:string ; a owl:Class ; rdfs:label "uric acid urolithiasis"@en ; rdfs:subClassOf obo:DOID_0080653 . obo:DOID_0080655 obo:IAO_0000115 """A kidney disease that is characterized by formation of renal calcium stones or bone demineralization."""^^xsd:string ; oboInOwl:hasDbXref "KEGG:H00888"^^xsd:string, "OMIM:PS612286"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080655"^^xsd:string ; a owl:Class ; rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis"@en ; rdfs:subClassOf obo:DOID_557 . obo:DOID_0080656 obo:IAO_0000115 "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY."^^xsd:string ; oboInOwl:hasDbXref "NCI:C120199"^^xsd:string, "ORDO:1772"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080656"^^xsd:string ; a owl:Class ; rdfs:label "45,X/46,XY mixed gonadal dysgenesis"@en ; rdfs:subClassOf obo:DOID_14449 . obo:DOID_0080661 obo:IAO_0000115 "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:107600"^^xsd:string ; oboInOwl:hasExactSynonym "nonsyndromic aplasia cutis congenita"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080661"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic aplasia cutis congenita"@en ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0080662 obo:IAO_0000115 "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108770"^^xsd:string, "ORDO:1344"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080662"^^xsd:string ; a owl:Class ; rdfs:label "atrial standstill 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080663 obo:IAO_0000115 "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615745"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080663"^^xsd:string ; a owl:Class ; rdfs:label "atrial standstill 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080664 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10072"^^xsd:string, "NCI:C122660"^^xsd:string, "OMIM:112250"^^xsd:string, "ORDO:85182"^^xsd:string ; oboInOwl:hasExactSynonym "Hardcastle syndrome"^^xsd:string, "bone dysplasia-medullary fibrosarcoma syndrome"^^xsd:string, "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080664"^^xsd:string ; a owl:Class ; rdfs:label "diaphyseal medullary stenosis with malignant fibrous histiocytoma"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080665 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin."^^xsd:string ; oboInOwl:hasDbXref "GARD:12721"^^xsd:string, "OMIM:122700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080665"^^xsd:string ; a owl:Class ; rdfs:label "warfarin resistance"@en ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0080666 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080666"^^xsd:string ; a owl:Class ; rdfs:label "warfarin sensitivity"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080667 obo:IAO_0000115 "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles."^^xsd:string ; oboInOwl:hasExactSynonym "very severe spinal muscular atrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080667"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy type 0"@en ; rdfs:subClassOf obo:DOID_0060160, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080669 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618031"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080669"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080670 obo:IAO_0000115 "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080670"^^xsd:string ; a owl:Class ; rdfs:label "Meesmann corneal dystrophy 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080671 obo:IAO_0000115 "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618767"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080671"^^xsd:string ; a owl:Class ; rdfs:label "Meesmann corneal dystrophy 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080672 obo:IAO_0000115 "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:228520"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080672"^^xsd:string ; a owl:Class ; rdfs:label "fibrochondrogenesis 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080673 obo:IAO_0000115 "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614524"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080673"^^xsd:string ; a owl:Class ; rdfs:label "fibrochondrogenesis 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0060465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080674 obo:IAO_0000115 "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1."^^xsd:string ; oboInOwl:hasDbXref "NCI:C53555"^^xsd:string, "UMLS_CUI:C3642346"^^xsd:string ; oboInOwl:hasExactSynonym "Luminal B Breast Carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080674"^^xsd:string ; a owl:Class ; rdfs:label "luminal breast carcinoma B"@en ; rdfs:subClassOf obo:DOID_3459 . obo:DOID_0080675 obo:IAO_0000115 "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604841"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080675"^^xsd:string ; a owl:Class ; rdfs:label "Stickler syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080046, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080676 obo:IAO_0000115 "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:108300"^^xsd:string, "ORDO:90653"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080676"^^xsd:string ; a owl:Class ; rdfs:label "Stickler syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080046, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080677 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:184840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080677"^^xsd:string ; a owl:Class ; rdfs:label "otospondylomegaepiphyseal dysplasia, autosomal dominant"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080678 obo:IAO_0000115 "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay."^^xsd:string ; oboInOwl:hasDbXref "OMIM:252605"^^xsd:string, "ORDO:423470"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080678"^^xsd:string ; a owl:Class ; rdfs:label "mucolipidosis III gamma"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080488, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080679 obo:IAO_0000115 "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine."^^xsd:string ; oboInOwl:hasDbXref "OMIM:243180"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080679"^^xsd:string ; a owl:Class ; rdfs:label "neuronal intestinal dysplasia type A"@en ; rdfs:subClassOf obo:DOID_0080072 . obo:DOID_0080680 obo:IAO_0000115 "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080680"^^xsd:string ; a owl:Class ; rdfs:label "neuronal intestinal dysplasia type B"@en ; rdfs:subClassOf obo:DOID_0080072 . obo:DOID_0080681 obo:IAO_0000115 "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:3017"^^xsd:string, "OMIM:300048"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080681"^^xsd:string ; a owl:Class ; rdfs:label "X-linked chronic idiopathic intestinal pseudo-obstruction"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080072, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080682 obo:IAO_0000115 "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609629"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080682"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant familial visceral neuropathy"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080072, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080683 obo:IAO_0000115 "A nail disease that is characterized by underdevelopment of nails."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS161050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080683"^^xsd:string ; a owl:Class ; rdfs:label "nonsyndromic congenital nail disorder"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_4123, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080684 obo:IAO_0000115 "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129309"^^xsd:string ; oboInOwl:hasExactSynonym "diffuse intrinsic pontine glioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080684"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse midline glioma, H3 K27M-mutant"@en ; rdfs:subClassOf obo:DOID_0080879, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] . obo:DOID_0080685 obo:IAO_0000115 "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080685"^^xsd:string ; a owl:Class ; rdfs:label "aortic dissection"@en ; rdfs:subClassOf obo:DOID_520 . obo:DOID_0080686 obo:IAO_0000115 "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615883"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080686"^^xsd:string ; a owl:Class ; rdfs:label "tubular aggregate myopathy 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:narrowMatch "ORDO:2593"^^xsd:string . obo:DOID_0080687 obo:IAO_0000115 "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300718"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080687"^^xsd:string ; a owl:Class ; rdfs:label "reducing body myopathy 1B"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080688 obo:IAO_0000115 "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes."^^xsd:string ; oboInOwl:hasDbXref "GARD:3007"^^xsd:string, "OMIM:PS257300"^^xsd:string, "ORDO:1052"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080688"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080689 obo:IAO_0000115 "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617598"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080689"^^xsd:string ; a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080690 obo:IAO_0000115 "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."^^xsd:string ; oboInOwl:hasExactSynonym "RAS/mitogen-activated protein kinase syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080690"^^xsd:string ; a owl:Class ; rdfs:label "RASopathy"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080691 obo:IAO_0000115 "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay."^^xsd:string ; oboInOwl:hasDbXref "GARD:10719"^^xsd:string, "ORDO:2701"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080691"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair"@en ; rdfs:subClassOf obo:DOID_0080690 . obo:DOID_0080692 obo:IAO_0000115 "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607721"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080692"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair 1"@en ; rdfs:subClassOf obo:DOID_0080691 . obo:DOID_0080693 obo:IAO_0000115 "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617506"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080693"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome-like disorder with loose anagen hair 2"@en ; rdfs:subClassOf obo:DOID_0080691 . obo:DOID_0080694 obo:IAO_0000115 "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy."^^xsd:string ; oboInOwl:hasDbXref "GARD:65"^^xsd:string, "MESH:C537548"^^xsd:string, "NCI:C132195"^^xsd:string, "OMIM:PS251300"^^xsd:string, "ORDO:2065"^^xsd:string, "SNOMEDCT_US_2021_03_01:721297008"^^xsd:string, "UMLS_CUI:C0795949"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080694"^^xsd:string ; a owl:Class ; rdfs:label "Galloway-Mowat syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080695 obo:IAO_0000115 """A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature."""^^xsd:string ; oboInOwl:hasDbXref "GARD:10041"^^xsd:string, "OMIM:608572"^^xsd:string, "ORDO:1200"^^xsd:string ; oboInOwl:hasExactSynonym "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080695"^^xsd:string ; a owl:Class ; rdfs:label "Burn-McKeown syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080696 obo:IAO_0000115 "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:7894"^^xsd:string, "OMIM:277950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080696"^^xsd:string ; a owl:Class ; rdfs:label "Winchester syndrome"@en ; rdfs:subClassOf obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002797 ] . obo:DOID_0080697 obo:IAO_0000115 "An Opitz-GBBB syndrome that has_material_basis_in mutation in the MID1 gene on Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080697"^^xsd:string ; a owl:Class ; rdfs:label "Opitz GBBB syndrome type I"@en ; rdfs:subClassOf obo:DOID_0050780, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080698 obo:IAO_0000115 "An Opitz-GBBB syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145410"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080698"^^xsd:string ; a owl:Class ; rdfs:label "Opitz GBBB syndrome type II"@en ; rdfs:subClassOf obo:DOID_0050780 . obo:DOID_0080699 obo:IAO_0000115 "An amino acid metabolic disorder characterized by the lack of glutathione production."^^xsd:string ; oboInOwl:hasDbXref "GARD:10047"^^xsd:string, "OMIM:266130"^^xsd:string, "ORDO:32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080699"^^xsd:string ; a owl:Class ; rdfs:label "glutathione synthetase deficiency"@en ; rdfs:subClassOf obo:DOID_9252 . obo:DOID_0080700 obo:IAO_0000115 "A physical disorder that is characterized by impairment of the development of the lower half of the body."^^xsd:string ; oboInOwl:hasExactSynonym "caudal dysgenesis syndrome"^^xsd:string, "caudal dysplasia sequence"^^xsd:string, "caudal regression sequence"^^xsd:string, "sacral agenesis"^^xsd:string, "sacral defect with anterior meningocele"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080700"^^xsd:string ; a owl:Class ; rdfs:label "caudal regression syndrome"@en ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0080701 obo:IAO_0000115 "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:188050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080701"^^xsd:string ; a owl:Class ; rdfs:label "prothrombin thrombophilia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080702 obo:IAO_0000115 "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080702"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma WNT activated"@en ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_0080703 obo:IAO_0000115 "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129441"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080703"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma SHH activated"@en ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_0080704 obo:IAO_0000115 "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080704"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma SHH activated and TP53 mutant"@en ; rdfs:subClassOf obo:DOID_0080703 . obo:DOID_0080705 obo:IAO_0000115 "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129443"^^xsd:string ; oboInOwl:hasExactSynonym "Medulloblastoma SHH-Activated TP53-Wildtype"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080705"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma SHH activated and TP53 wild-type"@en ; rdfs:subClassOf obo:DOID_0080703 . obo:DOID_0080706 obo:IAO_0000115 "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080706"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma non-WNT/non-SHH"@en ; rdfs:subClassOf obo:DOID_0050902 . obo:DOID_0080707 obo:IAO_0000115 "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129445"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080707"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma non-WNT/non-SHH group 3"@en ; rdfs:subClassOf obo:DOID_0080706 . obo:DOID_0080708 obo:IAO_0000115 "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations and chromosome 17 abnormalities that may be present."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129446"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080708"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "medulloblastoma non-WNT/non-SHH group 4"@en ; rdfs:subClassOf obo:DOID_0080706 . obo:DOID_0080709 obo:IAO_0000115 "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080709"^^xsd:string ; a owl:Class ; rdfs:label "NK cell deficiency"@en ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0080710 obo:IAO_0000115 "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080710"^^xsd:string ; a owl:Class ; rdfs:label "T cell and NK cell immunodeficiency"@en ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0080711 obo:IAO_0000115 "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19."^^xsd:string ; oboInOwl:hasExactSynonym "MIS-C"^^xsd:string, "multisystem inflammatory disorder in children and adolescents"^^xsd:string, "paediatric inflammatory multisystemic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080711"^^xsd:string ; a owl:Class ; rdfs:label "multisystem inflammatory syndrome in children"@en ; rdfs:subClassOf obo:DOID_0080599 . obo:DOID_0080712 obo:IAO_0000115 "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene."^^xsd:string ; oboInOwl:hasExactSynonym "gene duplication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080712"^^xsd:string ; a owl:Class ; rdfs:label "gene duplication disease"@en ; rdfs:subClassOf obo:DOID_0050177 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000704 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] ) ] . obo:DOID_0080713 obo:IAO_0000115 "A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking."^^xsd:string ; oboInOwl:hasDbXref "GARD:9781"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080713"^^xsd:string ; a owl:Class ; rdfs:label "MECP2 duplication syndrome"@en ; rdfs:subClassOf obo:DOID_0080712, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000704 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0080714 obo:IAO_0000115 "A syndrome that has_material_basis_in inherited extra copies of the alpha tryptase gene and that is characterized by high blood tryptase levels."^^xsd:string ; oboInOwl:hasDbXref "GARD:13193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080714"^^xsd:string ; a owl:Class ; rdfs:label "hereditary alpha tryptasemia syndrome"@en ; rdfs:subClassOf obo:DOID_0080712, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000704 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0080715 obo:IAO_0000115 "A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618721"^^xsd:string ; oboInOwl:hasExactSynonym "DEE82"^^xsd:string, "early infantile epileptic encephalopathy 82"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080715"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 82"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080716 obo:IAO_0000115 "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS615438"^^xsd:string, "ORDO:370088"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080716"^^xsd:string ; a owl:Class ; rdfs:label "infantile liver failure syndrome"@en ; rdfs:subClassOf obo:DOID_225, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] . obo:DOID_0080717 obo:IAO_0000115 "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:13114"^^xsd:string, "OMIM:615438"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080717"^^xsd:string ; a owl:Class ; rdfs:label "infantile liver failure syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080716, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080718 obo:IAO_0000115 "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."^^xsd:string ; oboInOwl:hasDbXref "GARD:9493"^^xsd:string, "MESH:C536816"^^xsd:string, "MESH:C538329"^^xsd:string, "OMIM:605820"^^xsd:string, "OMIM:617158"^^xsd:string, "ORDO:602"^^xsd:string, "SNOMEDCT_US_2021_03_01:702382000"^^xsd:string, "UMLS_CUI:C1833373"^^xsd:string, "UMLS_CUI:C1853926"^^xsd:string ; oboInOwl:hasExactSynonym "Distal Myopathy with Rimmed Vacuoles"^^xsd:string, "Distal myopathy, Nonaka type"^^xsd:string, "Hereditary Inclusion Body Myopathy"^^xsd:string, "Nonaka myopathy"^^xsd:string, "inclusion body myopathy 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080718"^^xsd:string ; a owl:Class ; rdfs:label "GNE myopathy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] ; skos:exactMatch "MESH:C536816"^^xsd:string . obo:DOID_0080719 obo:IAO_0000115 "A myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9494"^^xsd:string, "OMIM:605637"^^xsd:string, "ORDO:79091"^^xsd:string ; oboInOwl:hasExactSynonym "inclusion body myopathy 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080719"^^xsd:string ; a owl:Class ; rdfs:label "proximal myopathy and ophthalmoplegia"@en ; rdfs:subClassOf obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080720 obo:IAO_0000115 "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4732"^^xsd:string, "OMIM:124480"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080720"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant congenital deafness with onychodystrophy"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080721 obo:IAO_0000115 "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones."^^xsd:string ; oboInOwl:hasDbXref "OMIM:126550"^^xsd:string, "ORDO:85192"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080721"^^xsd:string ; a owl:Class ; rdfs:label "calvarial doughnut lesions with bone fragility"@en ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0080722 obo:IAO_0000115 "A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E."^^xsd:string ; oboInOwl:hasDbXref "GARD:8367"^^xsd:string, "OMIM:244460"^^xsd:string, "ORDO:93324"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080722"^^xsd:string ; a owl:Class ; rdfs:label "Kenny-Caffey syndrome type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080723 obo:IAO_0000115 "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:83"^^xsd:string, "OMIM:127000"^^xsd:string, "ORDO:93325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080723"^^xsd:string ; a owl:Class ; rdfs:label "Kenny-Caffey syndrome type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:C537020"^^xsd:string . obo:DOID_0080724 obo:IAO_0000115 "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS127000"^^xsd:string, "ORDO:2333"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080724"^^xsd:string ; a owl:Class ; rdfs:label "Kenny-Caffey syndrome"@en ; rdfs:subClassOf obo:DOID_225, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0002652 ] . obo:DOID_0080725 obo:IAO_0000115 "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:2336"^^xsd:string, "KEGG:H02296"^^xsd:string, "OMIM:129200"^^xsd:string, "ORDO:1658"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080725"^^xsd:string ; a owl:Class ; rdfs:label "BASAN syndrome"@en ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0080726 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars."^^xsd:string ; oboInOwl:hasDbXref "OMIM:130010"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080726"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome classic type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080727 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:130060"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080727"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome arthrochalasia type 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080728 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617821"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080728"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome arthrochalasia type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080729 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614170"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080729"^^xsd:string ; a owl:Class ; rdfs:label "brittle cornea syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10124, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] . obo:DOID_0080730 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:225320"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080730"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome cardiac valvular type"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080731 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606408"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080731"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome classic-like 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080732 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080732"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome classic-like 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080733 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:225410"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080733"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome dermatosparaxis type"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080734 obo:IAO_0000115 """An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36."""^^xsd:string ; oboInOwl:hasDbXref "OMIM:225400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080734"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome kyphoscoliotic type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080735 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615539"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080735"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome kyphoscoliotic type 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080736 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601776"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080736"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome musculocontractural type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080737 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615539"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080737"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome musculocontractural type 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080738 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:130070"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080738"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080739 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612350"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080739"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 3"@en ; rdfs:subClassOf obo:DOID_13359 . obo:DOID_0080740 obo:IAO_0000115 "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M32.11"^^xsd:string ; oboInOwl:hasExactSynonym "Libmann–Sachs, Endocarditis in systemic lupus erythematosus"^^xsd:string, "nonbacterial thrombotic endocarditis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080740"^^xsd:string ; a owl:Class ; rdfs:label "Libman-Sacks endocarditis"@en ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_10314, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_0080741 obo:IAO_0000115 "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes."^^xsd:string ; oboInOwl:hasDbXref "GARD:8742"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080741"^^xsd:string ; a owl:Class ; rdfs:label "limbic encephalitis"@en ; rdfs:subClassOf obo:DOID_0060004, obo:DOID_9588, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001871 ] . obo:DOID_0080742 obo:IAO_0000115 "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera."^^xsd:string ; oboInOwl:hasExactSynonym "autoimmune cholangiopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080742"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune cholangitis"@en ; rdfs:subClassOf obo:DOID_2048 . obo:DOID_0080743 obo:IAO_0000115 "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080743"^^xsd:string ; a owl:Class ; rdfs:label "transverse myelitis"@en ; rdfs:subClassOf obo:DOID_322 . obo:DOID_0080744 obo:IAO_0000115 "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases."^^xsd:string ; oboInOwl:hasDbXref "GARD:735"^^xsd:string, "ORDO:81"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080744"^^xsd:string ; a owl:Class ; rdfs:label "antisynthetase syndrome"@en ; rdfs:subClassOf obo:DOID_417 ; skos:exactMatch "MESH:C537778"^^xsd:string . obo:DOID_0080745 obo:IAO_0000115 "A myositis that is characterized by muscle weakness affecting both sides of your body."^^xsd:string ; oboInOwl:hasDbXref "GARD:7425"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080745"^^xsd:string ; a owl:Class ; rdfs:label "polymyositis"@en ; rdfs:subClassOf obo:DOID_0060032, obo:DOID_633, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080746 obo:IAO_0000115 "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Acute Febrile Neutrophilic Dermatosis"^^xsd:string, "Sweet's syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080746"^^xsd:string ; a owl:Class ; rdfs:label "Sweet syndrome"@en ; rdfs:subClassOf obo:DOID_1205, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_0080747 obo:IAO_0000115 "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080747"^^xsd:string ; a owl:Class ; rdfs:label "chronic urticaria"@en ; rdfs:subClassOf obo:DOID_1555 . obo:DOID_0080748 obo:IAO_0000115 "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080748"^^xsd:string ; a owl:Class ; rdfs:label "chronic inducible urticaria"@en ; rdfs:subClassOf obo:DOID_0080747 . obo:DOID_0080749 obo:IAO_0000115 "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus."^^xsd:string ; oboInOwl:hasExactSynonym "chronic idiopathic urticaria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080749"^^xsd:string ; a owl:Class ; rdfs:label "chronic spontaneous urticaria"@en ; rdfs:subClassOf obo:DOID_0080747 . obo:DOID_0080750 obo:IAO_0000115 "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080750"^^xsd:string ; a owl:Class ; rdfs:label "erythema nodosum"@en ; rdfs:subClassOf obo:DOID_1526 . obo:DOID_0080751 obo:IAO_0000115 "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080751"^^xsd:string ; a owl:Class ; rdfs:label "keratosis pilaris atrophicans"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1697, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080752 obo:IAO_0000115 "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080752"^^xsd:string ; a owl:Class ; rdfs:label "keratosis pilaris atrophicans faciei"@en ; rdfs:subClassOf obo:DOID_0080751 . obo:DOID_0080753 obo:IAO_0000115 "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma."^^xsd:string ; oboInOwl:hasDbXref "ORDO:2340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080753"^^xsd:string ; a owl:Class ; rdfs:label "keratosis follicularis spinulosa decalvans"@en ; rdfs:subClassOf obo:DOID_0080751 . obo:DOID_0080754 obo:IAO_0000115 "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:6829"^^xsd:string, "OMIM:308800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080754"^^xsd:string ; a owl:Class ; rdfs:label "X-linked keratosis follicularis spinulosa decalvans"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080753, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080755 obo:IAO_0000115 "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612843"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080755"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant keratosis follicularis spinulosa decalvans"@en ; rdfs:subClassOf obo:DOID_0080753 . obo:DOID_0080756 obo:IAO_0000115 "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead."^^xsd:string ; oboInOwl:hasDbXref "GARD:9744"^^xsd:string, "OMIM:209700"^^xsd:string, "ORDO:79100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080756"^^xsd:string ; a owl:Class ; rdfs:label "atrophoderma vermiculata"@en ; rdfs:subClassOf obo:DOID_0080751 . obo:DOID_0080757 obo:IAO_0000115 "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:134600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080757"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080758 obo:IAO_0000115 "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613388"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080758"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080759 obo:IAO_0000115 "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615605"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080759"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080760 obo:IAO_0000115 "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616026"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080760"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 4"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080761 obo:IAO_0000115 "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618913"^^xsd:string ; oboInOwl:hasExactSynonym "Acadian-variant Fanconi syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080761"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi renotubular syndrome 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1062, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080762 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617232"^^xsd:string ; oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy 21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080762"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Z"@en ; rdfs:subClassOf obo:DOID_0110274, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0080763 obo:IAO_0000115 "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining."^^xsd:string ; oboInOwl:hasDbXref "GARD:10334"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080763"^^xsd:string ; a owl:Class ; rdfs:label "diffuse gastric cancer"@en ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_0080764 obo:IAO_0000115 "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:10900"^^xsd:string, "OMIM:137215"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080764"^^xsd:string ; a owl:Class ; rdfs:label "hereditary diffuse gastric cancer"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080763, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080765 obo:IAO_0000115 "A syndromic intellectual disability that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618665"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive mental retardation 72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080765"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive intellectual developmental disorder-72"@en ; rdfs:subClassOf obo:DOID_0050888 . obo:DOID_0080766 obo:IAO_0000115 "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618531"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080766"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 6"@en ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080767 obo:IAO_0000115 "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle."^^xsd:string ; oboInOwl:hasDbXref "GARD:9519"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080767"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune myocarditis"@en ; rdfs:subClassOf obo:DOID_0060051, obo:DOID_820, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002349 ] ) ] . obo:DOID_0080768 obo:IAO_0000115 "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine."^^xsd:string ; oboInOwl:hasDbXref "GARD:9298"^^xsd:string, "OMIM:266100"^^xsd:string, "ORDO:3006"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080768"^^xsd:string ; a owl:Class ; rdfs:label "pyridoxine-dependent epilepsy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; skos:exactMatch "MESH:C536254"^^xsd:string . obo:DOID_0080769 obo:IAO_0000115 "An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080769"^^xsd:string ; a owl:Class ; rdfs:label "early-onset vitamin B6-dependent epilepsy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004340 ] . obo:DOID_0080770 obo:IAO_0000115 "A beta thalassemia that has material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603902"^^xsd:string ; oboInOwl:hasExactSynonym "inclusion body beta-thalassemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080770"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant beta thalassemia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080771 obo:IAO_0000115 "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129699"^^xsd:string, "OMIM:187550"^^xsd:string, "ORDO:231214"^^xsd:string ; oboInOwl:hasExactSynonym "Cooley's anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080771"^^xsd:string ; a owl:Class ; rdfs:label "beta-thalassemia major"@en ; rdfs:subClassOf obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080772 obo:IAO_0000115 "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life."^^xsd:string ; oboInOwl:hasDbXref "ORDO:231222"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080772"^^xsd:string ; a owl:Class ; rdfs:label "beta-thalassemia intermedia"@en ; rdfs:subClassOf obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080773 obo:IAO_0000115 "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild."^^xsd:string ; oboInOwl:hasDbXref "NCI:C172823"^^xsd:string, "ORDO:231237"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080773"^^xsd:string ; a owl:Class ; rdfs:label "delta beta-thalassemia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080774 obo:IAO_0000115 "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:187550"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080774"^^xsd:string ; a owl:Class ; rdfs:label "thalassemia minor"@en ; rdfs:subClassOf obo:DOID_12241 . obo:DOID_0080775 obo:IAO_0000115 "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E34.51"^^xsd:string, "MESH:D013734"^^xsd:string, "NCI:C120191"^^xsd:string, "ORDO:99429"^^xsd:string, "SNOMEDCT_US_2021_03_01:267486007"^^xsd:string, "UMLS_CUI:C0936016"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080775"^^xsd:string ; a owl:Class ; rdfs:label "complete androgen insensitivity syndrome"@en ; rdfs:subClassOf obo:DOID_4674 . obo:DOID_0080776 obo:IAO_0000115 "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action."^^xsd:string ; oboInOwl:hasDbXref "GARD:5692"^^xsd:string, "OMIM:312300"^^xsd:string, "ORDO:90797"^^xsd:string ; oboInOwl:hasExactSynonym "Reifenstein syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080776"^^xsd:string ; a owl:Class ; rdfs:label "partial androgen insensitivity syndrome"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4674, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080777 obo:IAO_0000115 "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation."^^xsd:string ; oboInOwl:hasDbXref "NCI:C45540"^^xsd:string ; oboInOwl:hasExactSynonym "Sarcomatoid carcinoma of the lung"^^xsd:string, "pulmonary sarcomatoid carcinoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080777"^^xsd:string ; a owl:Class ; rdfs:label "lung sarcomatoid carcinoma"@en ; rdfs:subClassOf obo:DOID_3905 . obo:DOID_0080778 obo:IAO_0000115 "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10593"^^xsd:string, "OMIM:613070"^^xsd:string, "ORDO:217371"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080778"^^xsd:string ; a owl:Class ; rdfs:label "transient infantile liver failure"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_409, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080779 obo:IAO_0000115 "A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7224"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080779"^^xsd:string ; a owl:Class ; rdfs:label "plasmablastic lymphoma"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080780 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by a predominant immature erythroid population."^^xsd:string ; oboInOwl:hasDbXref "NCI:C8923"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080780"^^xsd:string ; a owl:Class ; rdfs:label "acute erythroid leukemia"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080781 obo:IAO_0000115 "An endocrine organ benign neoplasm arising from the exocrine pancreas."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4613"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080781"^^xsd:string ; a owl:Class ; rdfs:label "benign exocrine pancreas neoplasm"@en ; rdfs:subClassOf obo:DOID_0060089 . obo:DOID_0080782 obo:IAO_0000115 "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080782"^^xsd:string ; a owl:Class ; rdfs:label "mucinous pancreas adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_3030, obo:DOID_4074, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_0080783 oboInOwl:hasDbXref "OMIM:304400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080783"^^xsd:string ; a owl:Class ; rdfs:label "obsolete X-linked sensorineural deafness"@en ; owl:deprecated true . obo:DOID_0080784 obo:IAO_0000115 "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014552"^^xsd:string ; oboInOwl:hasExactSynonym "UTI"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080784"^^xsd:string ; a owl:Class ; rdfs:label "urinary tract infection"@en ; rdfs:subClassOf obo:DOID_104, obo:DOID_18, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] ; skos:exactMatch "MESH:D014552"^^xsd:string . obo:DOID_0080785 obo:IAO_0000115 "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:211530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080785"^^xsd:string ; a owl:Class ; rdfs:label "Brown-Vialetto-Van Laere syndrome 1"@en ; rdfs:subClassOf obo:DOID_0050694, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080786 obo:IAO_0000115 "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614707"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080786"^^xsd:string ; a owl:Class ; rdfs:label "Brown-Vialetto-Van Laere syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050694, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0080787 obo:IAO_0000115 "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:185800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080787"^^xsd:string ; a owl:Class ; rdfs:label "proximal symphalangism 1"@en ; rdfs:subClassOf obo:DOID_0050788 . obo:DOID_0080788 obo:IAO_0000115 "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615298"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080788"^^xsd:string ; a owl:Class ; rdfs:label "proximal symphalangism 2"@en ; rdfs:subClassOf obo:DOID_0050788 . obo:DOID_0080789 obo:IAO_0000115 "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:154500"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080789"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 1"@en ; rdfs:subClassOf obo:DOID_2908, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080790 obo:IAO_0000115 "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613717"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080790"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2908, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080791 obo:IAO_0000115 "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:248390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080791"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2908, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080792 obo:IAO_0000115 "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618939"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080792"^^xsd:string ; a owl:Class ; rdfs:label "Treacher Collins syndrome 4"@en ; rdfs:subClassOf obo:DOID_2908 . obo:DOID_0080794 obo:IAO_0000115 "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7972"^^xsd:string ; oboInOwl:hasExactSynonym "pediatric non-Down syndrome acute megakaryoblastic leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080794"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "childhood acute megakaryoblastic leukemia"@en ; rdfs:subClassOf obo:DOID_8761, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080795 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by primary differentiation to basophils."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3164"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080795"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "acute basophilic leukemia"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080796 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C122688"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080796"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "core binding factor acute myeloid leukemia"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080797 obo:IAO_0000115 "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4684"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080797"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "nasal type extranodal NK/T-cell lymphoma"@en ; rdfs:subClassOf obo:DOID_0050743, obo:DOID_10811, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] . obo:DOID_0080798 obo:IAO_0000115 "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_mateiral_basis_in mutation in the GATA1 gene."^^xsd:string ; oboInOwl:hasDbXref "NCI:C43223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080798"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "myeloid leukemia associated with Down Syndrome"@en ; rdfs:subClassOf obo:DOID_8761 . obo:DOID_0080799 obo:IAO_0000115 "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C54294"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080799"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "sinonasal undifferentiated carcinoma"@en ; rdfs:subClassOf obo:DOID_0050619, obo:DOID_4931, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001825 ] . obo:DOID_0080800 obo:IAO_0000115 "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found."^^xsd:string ; oboInOwl:hasDbXref "NCI:C62193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080800"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "salivary gland mucinous adenocarcinoma"@en ; rdfs:subClassOf obo:DOID_0050904, obo:DOID_3030, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0000414 ] ) ] ] . obo:DOID_0080801 obo:IAO_0000115 "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:123000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080801"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant craniometaphyseal dysplasia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080802 obo:IAO_0000115 "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:218400"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080802"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive craniometaphyseal dysplasia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080803 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:218330"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080803"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 1"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080804 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613610"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080804"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 2"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080805 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614099"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080805"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 3"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080806 obo:IAO_0000115 "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614378"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080806"^^xsd:string ; a owl:Class ; rdfs:label "cranioectodermal dysplasia 4"@en ; rdfs:subClassOf obo:DOID_0050577 . obo:DOID_0080807 obo:IAO_0000115 "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:122860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080807"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant craniodiaphyseal dysplasia"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080032, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080808 obo:IAO_0000115 "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080808"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "mammary analogue secretory carcinoma"@en ; rdfs:subClassOf obo:DOID_0050904 . obo:DOID_0080809 obo:IAO_0000115 "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080809"^^xsd:string ; a owl:Class ; rdfs:label "chronic asthma"@en ; rdfs:subClassOf obo:DOID_2841 . obo:DOID_0080810 obo:IAO_0000115 "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080810"^^xsd:string ; a owl:Class ; rdfs:label "acute asthma"@en ; rdfs:subClassOf obo:DOID_2841 . obo:DOID_0080811 obo:IAO_0000115 "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies."^^xsd:string ; oboInOwl:hasExactSynonym "atopic asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080811"^^xsd:string ; a owl:Class ; rdfs:label "extrinsic asthma"@en ; rdfs:subClassOf obo:DOID_0080809, obo:DOID_1205, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_0080812 obo:IAO_0000115 "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080812"^^xsd:string ; a owl:Class ; rdfs:label "intermittent asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080813 obo:IAO_0000115 "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080813"^^xsd:string ; a owl:Class ; rdfs:label "persistent mild asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080814 obo:IAO_0000115 "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080814"^^xsd:string ; a owl:Class ; rdfs:label "persistent moderate asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080815 obo:IAO_0000115 "A chronic asthma that is characterized by first presentation in early childhood."^^xsd:string ; oboInOwl:hasExactSynonym "childhood asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080815"^^xsd:string ; a owl:Class ; rdfs:label "childhood-onset asthma"@en ; rdfs:subClassOf obo:DOID_0080809, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080816 obo:IAO_0000115 "A chronic asthma that is characterized by first presentation in adulthood."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080816"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset severe asthma"@en ; rdfs:subClassOf obo:DOID_0080809, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0080817 obo:IAO_0000115 "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease."^^xsd:string ; oboInOwl:hasExactSynonym "type 2 high endotype"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080817"^^xsd:string ; a owl:Class ; rdfs:label "T2-high asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080818 obo:IAO_0000115 "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy."^^xsd:string ; oboInOwl:hasExactSynonym "type 2 low endotype"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080818"^^xsd:string ; a owl:Class ; rdfs:label "T2-low asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080819 obo:IAO_0000115 "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter."^^xsd:string ; oboInOwl:hasExactSynonym "irritant asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080819"^^xsd:string ; a owl:Class ; rdfs:label "environmental induced asthma"@en ; rdfs:subClassOf obo:DOID_9360 . obo:DOID_0080820 obo:IAO_0000115 "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080820"^^xsd:string ; a owl:Class ; rdfs:label "occupational asthma"@en ; rdfs:subClassOf obo:DOID_0080819 . obo:DOID_0080821 obo:IAO_0000115 "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise."^^xsd:string ; oboInOwl:hasExactSynonym "exercise-induced asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080821"^^xsd:string ; a owl:Class ; rdfs:label "exercise-induced bronchoconstriction"@en ; rdfs:subClassOf obo:DOID_9360 . obo:DOID_0080822 obo:IAO_0000115 "An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs."^^xsd:string ; oboInOwl:hasExactSynonym "aspirin-sensitive asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080822"^^xsd:string ; a owl:Class ; rdfs:label "aspirin-induced respiratory disease"@en ; rdfs:subClassOf obo:DOID_9360 . obo:DOID_0080823 obo:IAO_0000115 "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080823"^^xsd:string ; a owl:Class ; rdfs:label "near-fatal asthma"@en ; rdfs:subClassOf obo:DOID_0080810 . obo:DOID_0080824 obo:IAO_0000115 "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080824"^^xsd:string ; a owl:Class ; rdfs:label "persistent severe asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080825 obo:IAO_0000115 "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen."^^xsd:string ; oboInOwl:hasExactSynonym "thunderstorm asthma"^^xsd:string, "thunderstorm related asthma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080825"^^xsd:string ; a owl:Class ; rdfs:label "thunderstorm triggered asthma"@en ; rdfs:subClassOf obo:DOID_9415 . obo:DOID_0080826 obo:IAO_0000115 "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080826"^^xsd:string ; a owl:Class ; rdfs:label "nocturnal asthma"@en ; rdfs:subClassOf obo:DOID_0080809 . obo:DOID_0080827 obo:IAO_0000115 "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080827"^^xsd:string ; a owl:Class ; rdfs:label "human cytomegalovirus infection"@en ; rdfs:subClassOf obo:DOID_934 . obo:DOID_0080828 obo:IAO_0000115 "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutations in the UBA1 gene."^^xsd:string ; oboInOwl:hasExactSynonym "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080828"^^xsd:string ; a owl:Class ; rdfs:label "VEXAS syndrome"@en ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080829 obo:IAO_0000115 "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060101"^^xsd:string ; oboInOwl:hasDbXref "NCI:C132067"^^xsd:string ; oboInOwl:hasExactSynonym "benign glioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080829"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "low grade glioma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084, obo:DOID_0060090, obo:DOID_319, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000125 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] ) ] . obo:DOID_0080830 obo:IAO_0000115 "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology."^^xsd:string ; oboInOwl:hasExactSynonym "pediatric low-grade glioma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080830"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "childhood low-grade glioma"@en ; rdfs:subClassOf obo:DOID_0080829, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080831 obo:IAO_0000115 "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080831"^^xsd:string ; a owl:Class ; rdfs:label "subjective cognitive decline"@en ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_0080832 obo:IAO_0000115 "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080832"^^xsd:string ; a owl:Class ; rdfs:label "mild cognitive impairment"@en ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_0080833 obo:IAO_0000115 "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying."^^xsd:string ; oboInOwl:hasDbXref "GARD:6865"^^xsd:string, "ICD10CM:Q31.5"^^xsd:string, "OMIM:150280"^^xsd:string, "ORDO:2373"^^xsd:string, "SNOMEDCT_US_2021_03_01:253737007"^^xsd:string, "UMLS_CUI:C0345160"^^xsd:string ; oboInOwl:hasExactSynonym "congenital laryngomalacia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080833"^^xsd:string ; a owl:Class ; rdfs:label "laryngomalacia"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_786, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000513 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; skos:narrowMatch "MESH:D055092"^^xsd:string . obo:DOID_0080834 obo:IAO_0000115 "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080834"^^xsd:string ; a owl:Class ; rdfs:label "acquired laryngomalacia"@en ; rdfs:subClassOf obo:DOID_786 . obo:DOID_0080835 obo:IAO_0000115 "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms."^^xsd:string ; oboInOwl:hasDbXref "GARD:7781"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080835"^^xsd:string ; a owl:Class ; rdfs:label "TORCH syndrome"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080836 obo:IAO_0000115 "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3924"^^xsd:string, "OMIM:245590"^^xsd:string, "ORDO:220465"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080836"^^xsd:string ; a owl:Class ; rdfs:label "growth hormone insensitivity syndrome with immune dysregulation 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080837 obo:IAO_0000115 """A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21."""^^xsd:string ; oboInOwl:hasDbXref "OMIM:618985"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080837"^^xsd:string ; a owl:Class ; rdfs:label "growth hormone insensitivity syndrome with immune dysregulation 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080839 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301052"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080839"^^xsd:string ; a owl:Class ; rdfs:label "X-linked warfarin sensitivity"@en ; rdfs:subClassOf obo:DOID_655 . obo:DOID_0080840 obo:IAO_0000115 "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618977"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080840"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 12"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080841 obo:IAO_0000115 "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080841"^^xsd:string ; a owl:Class ; rdfs:label "pemphigoid"@en ; rdfs:subClassOf obo:DOID_0060039, obo:DOID_8502, [ a owl:Class ; owl:intersectionOf (obo:DOID_2723 [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000009 ] ) ] . obo:DOID_0080842 obo:IAO_0000115 "A meningioma that arises within the cranial cavity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008579"^^xsd:string, "NCI:C4656"^^xsd:string, "SNOMEDCT_US_2021_03_01:302820008"^^xsd:string, "UMLS_CUI:C0349604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080842"^^xsd:string ; a owl:Class ; rdfs:label "intracranial meningioma"@en ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_0080843 obo:IAO_0000115 "A meningioma that affects the supratentorial brain."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6971"^^xsd:string, "UMLS_CUI:C1334698"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080843"^^xsd:string ; a owl:Class ; rdfs:label "supratentorial meningioma"@en ; rdfs:subClassOf obo:DOID_3565 . obo:DOID_0080844 obo:IAO_0000115 "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537746"^^xsd:string, "OMIM:258315"^^xsd:string, "ORDO:93329"^^xsd:string, "SNOMEDCT_US_2021_03_01:725166005"^^xsd:string, "UMLS_CUI:C1850318"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080844"^^xsd:string ; a owl:Class ; rdfs:label "omodysplasia 1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060288, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080845 obo:IAO_0000115 "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567664"^^xsd:string, "OMIM:164745"^^xsd:string, "SNOMEDCT_US_2021_03_01:725165009"^^xsd:string, "UMLS_CUI:C2750355"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080845"^^xsd:string ; a owl:Class ; rdfs:label "omodysplasia 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060288, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080846 obo:IAO_0000115 "A diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000071698"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080846"^^xsd:string ; a owl:Class ; rdfs:label "latent autoimmune diabetes in adults"@en ; rdfs:subClassOf obo:DOID_417, obo:DOID_9351, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] ; skos:exactMatch "MESH:D000071698"^^xsd:string . obo:DOID_0080848 obo:IAO_0000115 "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia."^^xsd:string ; oboInOwl:hasExactSynonym "PASC", "chronic COVID-19"^^xsd:string, "post-COVID syndrome"^^xsd:string, "post-acute sequelae of SARS-CoV-2 infection" ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080848"^^xsd:string ; a owl:Class ; rdfs:label "long COVID"@en ; rdfs:subClassOf obo:DOID_0080599 . obo:DOID_0080849 obo:IAO_0000115 "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements."^^xsd:string ; oboInOwl:hasDbXref "GARD:16"^^xsd:string, "OMIM:257550"^^xsd:string, "ORDO:1404"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080849"^^xsd:string ; a owl:Class ; rdfs:label "ocular motor apraxia, Cogan type"@en ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0080850 obo:IAO_0000115 "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080850"^^xsd:string ; a owl:Class ; rdfs:label "pemphigus foliaceus"@en ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0080851 obo:IAO_0000115 "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080851"^^xsd:string ; a owl:Class ; rdfs:label "IgA pemphigus"@en ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0080852 obo:IAO_0000115 "A pemphigus that is characterised by painful blisters and denuded areas of the mouth, lips, oesophagus and skin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080852"^^xsd:string ; a owl:Class ; rdfs:label "paraneoplastic pemphigus"@en ; rdfs:subClassOf obo:DOID_9182 . obo:DOID_0080854 obo:IAO_0000115 "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129327"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080854"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "anaplastic pleomorphic xanthoastrocytoma"@en ; rdfs:subClassOf obo:DOID_3069 . obo:DOID_0080855 obo:IAO_0000115 "A movement disorder that is characterized by disturbances of balance, gait and posture."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080855"^^xsd:string ; a owl:Class ; rdfs:label "Parkinsonism"@en ; rdfs:subClassOf obo:DOID_480 . obo:DOID_0080856 obo:IAO_0000115 "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080856"^^xsd:string ; a owl:Class ; rdfs:label "vascular Parkinsonism"@en ; rdfs:subClassOf obo:DOID_0080855 . obo:DOID_0080857 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28)."^^xsd:string ; oboInOwl:hasDbXref "GARD:4480"^^xsd:string, "OMIM:311360"^^xsd:string ; oboInOwl:hasExactSynonym "FMR1-related primary ovarian insufficiency"^^xsd:string, "Fragile X-associated primary ovarian insufficiency"^^xsd:string, "premature ovarian failure 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080857"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 1"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080858 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300511"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080858"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 2A"@en ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0080859 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300604"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080859"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 2B"@en ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080860 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608996"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080860"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080861 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300510"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080861"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 4"@en ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0080862 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080862"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 5"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080863 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080863"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 6"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080864 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612964"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080864"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 7"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080865 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080865"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 8"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080866 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615724"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080866"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 9"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080867 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612885"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080867"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 10"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080868 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616946"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080868"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 11"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080869 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616946"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080869"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 12"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080870 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080870"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 13"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080871 obo:IAO_0000115 "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618014"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080871"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 14"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080872 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618096"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080872"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 15"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080873 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618723"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080873"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 16"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080874 obo:IAO_0000115 "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619146"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080874"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 17"@en ; rdfs:subClassOf obo:DOID_5426 . obo:DOID_0080875 obo:IAO_0000115 "An anaplastic astrocytoma carrying IDH mutations."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129290"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080875"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-mutant anaplastic astrocytoma"@en ; rdfs:subClassOf obo:DOID_3078 . obo:DOID_0080876 obo:IAO_0000115 "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9401/3"^^xsd:string, "NCI:C129291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080876"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-wildtype anaplastic astrocytoma"@en ; rdfs:subClassOf obo:DOID_3078 . obo:DOID_0080877 obo:IAO_0000115 "A glioblastoma that is characterized by astrocytic differentiation, elevated mitotic activity and necrosis or vascular proliferation and that has_material_basis_in IDH1 or IDH2 gene mutations."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9445/3"^^xsd:string, "NCI:C167335"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080877"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-mutant glioblastoma"@en ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0080878 obo:IAO_0000115 "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes."^^xsd:string ; oboInOwl:hasDbXref "ICDO:9440/3"^^xsd:string, "NCI:C39750"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080878"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "IDH-wildtype glioblastoma"@en ; rdfs:subClassOf obo:DOID_3068 . obo:DOID_0080879 obo:IAO_0000115 "A high grade glioma that has_material_basis_in mutations in the genes encoding histones."^^xsd:string ; oboInOwl:hasExactSynonym "histone mutated tumour"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080879"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "histone mutated tumor"@en ; rdfs:subClassOf obo:DOID_3070 . obo:DOID_0080880 obo:IAO_0000115 "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080880"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse glioma, H3 G34 mutant"@en ; rdfs:subClassOf obo:DOID_0080879 . obo:DOID_0080881 obo:IAO_0000115 "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080881"^^xsd:string ; a owl:Class ; rdfs:label "pleomorphic xanthoastrocytoma BRAF mutant"@en ; rdfs:subClassOf obo:DOID_0080854 . obo:DOID_0080882 obo:IAO_0000115 "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129321"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080882"^^xsd:string ; a owl:Class ; rdfs:label "anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted"@en ; rdfs:subClassOf obo:DOID_7154 . obo:DOID_0080883 obo:IAO_0000115 "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E55.0"^^xsd:string, "ICD9CM:268.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:68295002"^^xsd:string, "UMLS_CUI:C0221468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080883"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets"@en ; rdfs:subClassOf obo:DOID_0080006, obo:DOID_74, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002390 ] . obo:DOID_0080884 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277440"^^xsd:string, "ORDO:93160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080884"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 2A"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080885 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600785"^^xsd:string, "ORDO:93160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080885"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 2B"@en ; rdfs:subClassOf obo:DOID_0080883 . obo:DOID_0080886 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:264700"^^xsd:string, "ORDO:289157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080886"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 1A"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080887 obo:IAO_0000115 "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600081"^^xsd:string, "ORDO:289157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080887"^^xsd:string ; a owl:Class ; rdfs:label "vitamin D-dependent rickets type 1B"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080888 obo:IAO_0000115 "A spinal cord ependymoma that is characterized by MYCN amplification."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080888"^^xsd:string ; a owl:Class ; rdfs:label "spinal ependymoma, MYCN"@en ; rdfs:subClassOf obo:DOID_5503 . obo:DOID_0080889 obo:IAO_0000115 "A high grade ependymoma that is located within the posterior fossa."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080889"^^xsd:string ; a owl:Class ; rdfs:label "posterior fossa ependymoma"@en ; rdfs:subClassOf obo:DOID_5074, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0008788 ] . obo:DOID_0080890 obo:IAO_0000115 "A high grade ependymoma that is located within the supratentorial brain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080890"^^xsd:string ; a owl:Class ; rdfs:label "supratentorial ependymoma"@en ; rdfs:subClassOf obo:DOID_5074 . obo:DOID_0080891 obo:IAO_0000115 "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080891"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "YAP1-MAMLD1 fusion-positive supratentorial ependymoma"@en ; rdfs:subClassOf obo:DOID_0080890 . obo:DOID_0080892 obo:IAO_0000115 "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129351"^^xsd:string, "ORDO:530792"^^xsd:string ; oboInOwl:hasExactSynonym "C11orf95 fusion-positive supratentorial ependymoma"^^xsd:string, "Supratentorial C11ORF95-RELA fused ependymoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080892"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "RELA fusion-positive ependymoma"@en ; rdfs:subClassOf obo:DOID_0080890 . obo:DOID_0080893 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:13259"^^xsd:string, "OMIM:615485"^^xsd:string, "ORDO:352577"^^xsd:string ; oboInOwl:hasExactSynonym "ASXL3-related disorder"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080893"^^xsd:string ; a owl:Class ; rdfs:label "Bainbridge-Ropers syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0002054 ] . obo:DOID_0080894 obo:IAO_0000115 "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080894"^^xsd:string ; a owl:Class ; rdfs:label "lipofibromatosis-like neural tumor"@en ; rdfs:subClassOf obo:DOID_201 . obo:DOID_0080895 obo:IAO_0000115 "A hemangioma that is characterized by complete regression."^^xsd:string ; oboInOwl:hasDbXref "NCI:C172207"^^xsd:string, "ORDO:141184"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080895"^^xsd:string ; a owl:Class ; rdfs:label "rapidly involuting congenital hemangioma"@en ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_255, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0080896 obo:IAO_0000115 "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080896"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "pericytoma with t(7;12)"@en ; rdfs:subClassOf obo:DOID_3316, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000199 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0001565 ] . obo:DOID_0080897 obo:IAO_0000115 "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas."^^xsd:string ; oboInOwl:hasDbXref "ORDO:2126"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080897"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "solitary fibrous tumor/hemangiopericytoma"@en ; rdfs:subClassOf obo:DOID_201 . obo:DOID_0080898 obo:IAO_0000115 "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616202"^^xsd:string, "ORDO:444072"^^xsd:string ; oboInOwl:hasExactSynonym "cerebellar-facial-dental syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080898"^^xsd:string ; a owl:Class ; rdfs:label "cerebellofaciodental syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080899 obo:IAO_0000115 "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung."^^xsd:string ; oboInOwl:hasDbXref "NCI:C45542"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080899"^^xsd:string ; a owl:Class ; rdfs:label "lung pleomorphic carcinoma"@en ; rdfs:subClassOf obo:DOID_1324, obo:DOID_5662, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_0080900 obo:IAO_0000115 "A rhabdomyosarcoma located in the oral cavity."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080900"^^xsd:string ; a owl:Class ; rdfs:label "oral rhabdomyosarcoma"@en ; rdfs:subClassOf obo:DOID_3247, obo:DOID_8618, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_0080901 obo:IAO_0000115 "A sarcomatoid transitional cell carcinoma that is located_in the bladder."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080901"^^xsd:string ; a owl:Class ; rdfs:label "bladder sarcomatoid transitional cell carcinoma"@en ; rdfs:subClassOf obo:DOID_11054, obo:DOID_4014, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] ) ] . obo:DOID_0080902 obo:IAO_0000115 "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080902"^^xsd:string ; a owl:Class ; rdfs:label "bladder small cell carcinoma"@en ; rdfs:subClassOf obo:DOID_4007 . obo:DOID_0080903 obo:IAO_0000115 "A central nervous system primitive neuroectodermal neoplasm that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4794"^^xsd:string ; oboInOwl:hasDbXref "MESH:D018242"^^xsd:string, "NCI:C4915"^^xsd:string, "SNOMEDCT_US_2021_03_01:253070006"^^xsd:string, "UMLS_CUI:C0700367"^^xsd:string ; oboInOwl:hasExactSynonym "ependymoblastoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080903"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "embryonal tumor with multilayered rosettes, C19MC-altered"@en ; rdfs:subClassOf obo:DOID_0060103 . obo:DOID_0080904 obo:IAO_0000115 "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q."^^xsd:string ; oboInOwl:hasExactSynonym "CNS high-grade neuroepithelial tumors with MN1 alteration"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080904"^^xsd:string ; a owl:Class ; rdfs:label "astroblastoma, MN1-altered"@en ; rdfs:subClassOf obo:DOID_7305 . obo:DOID_0080905 obo:IAO_0000115 "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4826"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080905"^^xsd:string ; a owl:Class ; rdfs:label "central nervous system neuroblastoma"@en ; rdfs:subClassOf obo:DOID_4439 . obo:DOID_0080906 obo:IAO_0000115 "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo."^^xsd:string ; oboInOwl:hasExactSynonym "CNS NB-FOXR2"^^xsd:string, "central nervous system neuroblastoma with FOXR2 activation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080906"^^xsd:string ; a owl:Class ; rdfs:label "CNS neuroblastoma with FOXR2 activation"@en ; rdfs:subClassOf obo:DOID_0080905 . obo:DOID_0080907 obo:IAO_0000115 "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:1415"^^xsd:string, "OMIM:216400"^^xsd:string, "ORDO:90321"^^xsd:string ; oboInOwl:hasExactSynonym "Cockayne syndrome type 1"^^xsd:string, "Cockayne syndrome type I"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080907"^^xsd:string ; a owl:Class ; rdfs:label "Cockayne syndrome A"@en ; rdfs:subClassOf obo:DOID_2962 . obo:DOID_0080908 obo:IAO_0000115 "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:1420"^^xsd:string, "OMIM:133540"^^xsd:string, "ORDO:90322"^^xsd:string ; oboInOwl:hasExactSynonym "Cockayne syndrome 2"^^xsd:string, "Cockayne syndrome type II"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080908"^^xsd:string ; a owl:Class ; rdfs:label "Cockayne syndrome B"@en ; rdfs:subClassOf obo:DOID_2962 . obo:DOID_0080909 obo:IAO_0000115 "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production."^^xsd:string ; oboInOwl:hasDbXref "MESH:D064129"^^xsd:string, "NCI:C130234"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080909"^^xsd:string ; a owl:Class ; rdfs:label "castration-resistant prostate carcinoma"@en ; rdfs:subClassOf obo:DOID_10286 ; skos:broadMatch "MESH:D064129"^^xsd:string . obo:DOID_0080910 obo:IAO_0000115 "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis."^^xsd:string ; oboInOwl:hasDbXref "GARD:6027"^^xsd:string, "OMIM:PS214150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080910"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome"@en ; rdfs:subClassOf obo:DOID_2962 . obo:DOID_0080911 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:214150"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080911"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 1"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080912 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610756"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080912"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 2"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080913 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616570"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080913"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 3"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080914 obo:IAO_0000115 "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610758"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080914"^^xsd:string ; a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 4"@en ; rdfs:subClassOf obo:DOID_0080910 . obo:DOID_0080915 obo:IAO_0000115 "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054747"^^xsd:string, "NCI:C27349"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080915"^^xsd:string ; a owl:Class ; rdfs:label "histiocytic sarcoma"@en ; rdfs:subClassOf obo:DOID_5621 ; skos:exactMatch "MESH:D054747"^^xsd:string . obo:DOID_0080916 obo:IAO_0000115 "An acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7152"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080916"^^xsd:string ; a owl:Class ; rdfs:label "erythroleukemia"@en ; rdfs:subClassOf obo:DOID_0080780 . obo:DOID_0080917 obo:IAO_0000115 "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001357"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080917"^^xsd:string ; a owl:Class ; rdfs:label "sporatic amyotrophic lateral sclerosis"@en ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0080918 obo:IAO_0000115 "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri)."^^xsd:string ; oboInOwl:hasDbXref "NCI:C116936"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080918"^^xsd:string ; a owl:Class ; rdfs:label "polymicrogyria"@en ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0080919 obo:IAO_0000115 "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement."^^xsd:string ; oboInOwl:hasDbXref "ORDO:268947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080919"^^xsd:string ; a owl:Class ; rdfs:label "unilateral focal polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080920 obo:IAO_0000115 "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080920"^^xsd:string ; a owl:Class ; rdfs:label "bilateral generalized polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080921 obo:IAO_0000115 "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:10783"^^xsd:string, "ORDO:208444"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080921"^^xsd:string ; a owl:Class ; rdfs:label "bilateral frontal polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080922 obo:IAO_0000115 "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10784"^^xsd:string, "NCI:C148367"^^xsd:string, "OMIM:606854"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080922"^^xsd:string ; a owl:Class ; rdfs:label "bilateral frontoparietal polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080918, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080923 obo:IAO_0000115 "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10785"^^xsd:string, "OMIM:612691"^^xsd:string, "ORDO:208441"^^xsd:string ; oboInOwl:hasExactSynonym "bilateral temporooccipital polymicrogyria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080923"^^xsd:string ; a owl:Class ; rdfs:label "bilateral parasagittal parieto-occipital polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080918, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080924 obo:IAO_0000115 "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:6011"^^xsd:string, "OMIM:615752"^^xsd:string, "ORDO:98889"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080924"^^xsd:string ; a owl:Class ; rdfs:label "bilateral perisylvian polymicrogyria"@en ; rdfs:subClassOf obo:DOID_0080918 . obo:DOID_0080925 obo:IAO_0000115 "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12664"^^xsd:string, "NCI:131302"^^xsd:string, "OMIM:613571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080925"^^xsd:string ; a owl:Class ; rdfs:label "cytochrome P450 oxidoreductase deficiency"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1701, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080926 obo:IAO_0000115 "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7."^^xsd:string ; oboInOwl:hasDbXref "GARD:12076"^^xsd:string, "OMIM:609757"^^xsd:string, "ORDO:96121"^^xsd:string ; oboInOwl:hasExactSynonym "7q11.23 microduplication syndrome"^^xsd:string, "William-Beuren region duplication syndrome"^^xsd:string, "chromosome 7q11.23 duplication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080926"^^xsd:string ; a owl:Class ; rdfs:label "7q11.23 duplication syndrome"@en ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0080927 obo:IAO_0000115 "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease."^^xsd:string ; oboInOwl:hasDbXref "ORDO:439232"^^xsd:string ; oboInOwl:hasExactSynonym "AApoAIV amyloidosis"^^xsd:string, "renal AApoAIV amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080927"^^xsd:string ; a owl:Class ; rdfs:label "apolipoprotein A-IV associated amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080928 obo:IAO_0000115 "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy."^^xsd:string ; oboInOwl:hasDbXref "GARD:0010563"^^xsd:string, "ORDO:439246"^^xsd:string ; oboInOwl:hasExactSynonym "ABeta2M amyloidosis"^^xsd:string, "Amyloidosis Beta2M"^^xsd:string, "Aβ2M amyloidosis"^^xsd:string, "Beta2-microglobulinic amyloidosis"^^xsd:string, "dialysis-related beta2-microglobulin amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080928"^^xsd:string ; a owl:Class ; rdfs:label "dialysis-related amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080929 obo:IAO_0000115 "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy."^^xsd:string ; oboInOwl:hasDbXref "ORDO:314652"^^xsd:string ; oboInOwl:hasExactSynonym "Autosomal dominant beta2-microglobulinic amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080929"^^xsd:string ; a owl:Class ; rdfs:label "variant ABeta2M amyloidosis"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080930 obo:IAO_0000115 "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:105250"^^xsd:string ; oboInOwl:hasExactSynonym "familial primary localized cutaneous amyloidosis-1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080930"^^xsd:string ; a owl:Class ; rdfs:label "primary localized cutaneous amyloidosis 1"@en ; rdfs:subClassOf obo:DOID_0050639 . obo:DOID_0080931 obo:IAO_0000115 "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613955"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080931"^^xsd:string ; a owl:Class ; rdfs:label "primary localized cutaneous amyloidosis 2"@en ; rdfs:subClassOf obo:DOID_0050639 . obo:DOID_0080932 obo:IAO_0000115 "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617920"^^xsd:string ; oboInOwl:hasExactSynonym "Amyloidosis cutis dyschromica"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080932"^^xsd:string ; a owl:Class ; rdfs:label "primary localized cutaneous amyloidosis 3"@en ; rdfs:subClassOf obo:DOID_0050639 . obo:DOID_0080933 obo:IAO_0000115 "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E85.81"^^xsd:string ; oboInOwl:hasExactSynonym "AL amyloidosis"^^xsd:string, "Light chain amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080933"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin light chain amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_114, obo:DOID_409, obo:DOID_557, obo:DOID_655, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001021 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080934 obo:IAO_0000115 "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm."^^xsd:string ; oboInOwl:hasDbXref "ORDO:442582"^^xsd:string ; oboInOwl:hasExactSynonym "AH amyloidosis"^^xsd:string, "Amyloidosis derived from immunoglobulin heavy chain"^^xsd:string, "Heavy chain amyloidosis"^^xsd:string, "Ig heavy-chain–associated amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080934"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin heavy chain amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080935 obo:IAO_0000115 "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils."^^xsd:string ; oboInOwl:hasExactSynonym "AH/AL amyloidosis"^^xsd:string, "Ig heavy-and-light-chain amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080935"^^xsd:string ; a owl:Class ; rdfs:label "immunoglobulin heavy-and-light chain"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_9120 . obo:DOID_0080936 obo:IAO_0000115 "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E85.3"^^xsd:string ; oboInOwl:hasExactSynonym "AA amyloidosis"^^xsd:string, "Apo serum amyloid A amyloidosis"^^xsd:string, "inflammation AA amyloidosis"^^xsd:string, "secondary amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080936"^^xsd:string ; a owl:Class ; rdfs:label "serum amyloid A amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_2529, obo:DOID_409, obo:DOID_557, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_0080937 obo:IAO_0000115 "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein."^^xsd:string ; oboInOwl:hasExactSynonym "ATTRwt amyloidosis"^^xsd:string, "Age related amyloidosis"^^xsd:string, "Old age amyloidosis"^^xsd:string, "senile systemic amyloidosis"^^xsd:string, "wild-type ATTR amyloidosis"^^xsd:string, "wild-type transthyretin cardiac amyloidosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080937"^^xsd:string ; a owl:Class ; rdfs:label "wild-type amyloidosis"@en ; rdfs:subClassOf obo:DOID_0060158, obo:DOID_114, obo:DOID_9120, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] . obo:DOID_0080938 obo:IAO_0000115 "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent."^^xsd:string ; oboInOwl:hasExactSynonym "non-CAD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080938"^^xsd:string ; a owl:Class ; rdfs:label "nonobstructive coronary artery disease"@en ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_0080939 obo:IAO_0000115 "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:106100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080939"^^xsd:string ; a owl:Class ; rdfs:label "hereditary angioedema type I"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080940 obo:IAO_0000115 "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610618"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080940"^^xsd:string ; a owl:Class ; rdfs:label "hereditary angioedema type III"@en ; rdfs:subClassOf obo:DOID_14735 . obo:DOID_0080941 obo:IAO_0000115 "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080941"^^xsd:string ; a owl:Class ; rdfs:label "acquired angioedema"@en ; rdfs:subClassOf obo:DOID_1558 . obo:DOID_0080942 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:9657"^^xsd:string, "OMIM:PS607095"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080942"^^xsd:string ; a owl:Class ; rdfs:label "anauxetic dysplasia"@en ; rdfs:subClassOf obo:DOID_0080027 . obo:DOID_0080943 obo:IAO_0000115 "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618901"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080943"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080944 obo:IAO_0000115 "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616744"^^xsd:string ; oboInOwl:hasExactSynonym "A20 haploinsufficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080944"^^xsd:string ; a owl:Class ; rdfs:label "familial Behcet-like autoinflammatory syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080945 obo:IAO_0000115 "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618620"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080945"^^xsd:string ; a owl:Class ; rdfs:label "abdominal obesity-metabolic syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060611 . obo:DOID_0080946 obo:IAO_0000115 "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618863"^^xsd:string ; oboInOwl:hasExactSynonym "ACBD5 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080946"^^xsd:string ; a owl:Class ; rdfs:label "retinal dystrophy with leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080947 obo:IAO_0000115 "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080947"^^xsd:string ; a owl:Class ; rdfs:label "acute flaccid myelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_322 . obo:DOID_0080948 obo:IAO_0000115 "A syndrome that is characterized by characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618929"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080948"^^xsd:string ; a owl:Class ; rdfs:label "agenesis of corpus callosum, cardiac, ocular, and genital syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0080949 obo:IAO_0000115 "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080949"^^xsd:string ; a owl:Class ; rdfs:label "alcoholic ketoacidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050758, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0080950 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080950"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080951 obo:IAO_0000115 "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613930"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080951"^^xsd:string ; a owl:Class ; rdfs:label "alopecia-mental retardation syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080952 obo:IAO_0000115 "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619151"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080952"^^xsd:string ; a owl:Class ; rdfs:label "AMED syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080578, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0080953 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617297"^^xsd:string ; oboInOwl:hasExactSynonym "Amelogenesis imperfecta, type IJ"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080953"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080954 obo:IAO_0000115 "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth."^^xsd:string ; oboInOwl:hasDbXref "GARD:777"^^xsd:string, "OMIM:PS617468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080954"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita"@en ; rdfs:subClassOf obo:DOID_863 . obo:DOID_0080956 obo:IAO_0000115 "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6772"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080956"^^xsd:string ; a owl:Class ; rdfs:label "childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered"@en ; rdfs:subClassOf obo:DOID_7841, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0080957 obo:IAO_0000115 "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:2872"^^xsd:string, "OMIM:604091"^^xsd:string, "ORDO:425"^^xsd:string ; oboInOwl:hasExactSynonym "familial HDL deficiency"^^xsd:string, "familial hypoalphalipoproteinemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080957"^^xsd:string ; a owl:Class ; rdfs:label "primary hypoalphalipoproteinemia 1"@en ; rdfs:subClassOf obo:DOID_1387 . obo:DOID_0080958 obo:IAO_0000115 "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:758"^^xsd:string, "OMIM:618463"^^xsd:string, "ORDO:425"^^xsd:string ; oboInOwl:hasExactSynonym "Apolipoprotein A-I deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080958"^^xsd:string ; a owl:Class ; rdfs:label "primary hypoalphalipoproteinemia 2"@en ; rdfs:subClassOf obo:DOID_1387 . obo:DOID_0080959 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618920"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080959"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 14"@en ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080960 obo:IAO_0000115 "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617217"^^xsd:string ; oboInOwl:hasExactSynonym "Amelogenesis imperfecta, hypomaturation type, IIA6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080960"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 2A6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080962 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617396"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080962"^^xsd:string ; a owl:Class ; rdfs:label "anauxetic dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080963 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618853"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080963"^^xsd:string ; a owl:Class ; rdfs:label "anauxetic dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080964 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:105800"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080964"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060228, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080965 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608542"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080965"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080966 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080966"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060228, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080967 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610213"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080967"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080968 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300870"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080968"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080969 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611892"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080969"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080970 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612161"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080970"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080971 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612162"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080971"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080972 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612586"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080972"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080973 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612587"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080973"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080974 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614252"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080974"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080975 obo:IAO_0000115 "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618734"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080975"^^xsd:string ; a owl:Class ; rdfs:label "intracranial berry aneurysm 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0060228 . obo:DOID_0080976 obo:IAO_0000115 "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia."^^xsd:string ; oboInOwl:hasDbXref "NCI:C129785"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080976"^^xsd:string ; a owl:Class ; rdfs:label "acute myeloid leukemia with BCR-ABL1"@en ; rdfs:subClassOf obo:DOID_9119 . obo:DOID_0080977 obo:IAO_0000115 "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618496"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080977"^^xsd:string ; a owl:Class ; rdfs:label "aortic valve disease 3"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080332, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080978 obo:IAO_0000115 "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080978"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-1"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080979 obo:IAO_0000115 "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618484"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080979"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-3"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080980 obo:IAO_0000115 "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618766"^^xsd:string ; oboInOwl:hasExactSynonym "Zain syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080980"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-4"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080981 obo:IAO_0000115 "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080981"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis multiplex congenita-5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0080982 obo:IAO_0000115 "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080982"^^xsd:string ; a owl:Class ; rdfs:label "X-linked mental retardation-hypotonic facies syndrome-1"@en ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0080984 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2, either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion."^^xsd:string ; oboInOwl:hasDbXref "GARD:2378"^^xsd:string, "OMIM:309548"^^xsd:string, "ORDO:100973"^^xsd:string ; oboInOwl:hasExactSynonym "Fragile XE syndrome"^^xsd:string, "fragile site on chromosome Xq28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080984"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual developmental disorder 109"@en ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0080985 obo:IAO_0000115 "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype."^^xsd:string ; oboInOwl:hasDbXref "GARD:3307"^^xsd:string, "OMIM:309520"^^xsd:string, "ORDO:776"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080985"^^xsd:string ; a owl:Class ; rdfs:label "syndromic X-linked intellectual disorder Lujan-Fryns-type"@en ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001999 ] . obo:DOID_0080986 obo:IAO_0000115 "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12474"^^xsd:string, "OMIM:130080"^^xsd:string, "ORDO:75392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080986"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome periodontal type 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000974 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001382 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0031158 ] . obo:DOID_0080987 obo:IAO_0000115 "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12474"^^xsd:string, "OMIM:617174"^^xsd:string, "ORDO:75392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080987"^^xsd:string ; a owl:Class ; rdfs:label "Ehlers-Danlos syndrome periodontal type 2"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13359, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080988 obo:IAO_0000115 "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa."^^xsd:string ; oboInOwl:hasDbXref "GARD:2155"^^xsd:string, "OMIM:131850"^^xsd:string, "ORDO:79410"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080988"^^xsd:string ; a owl:Class ; rdfs:label "pretibial dystrophic epidermolysis bullosa"@en ; rdfs:subClassOf obo:DOID_4959 . obo:DOID_0080990 obo:IAO_0000115 "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:8433"^^xsd:string, "OMIM:145600"^^xsd:string, "ORDO:99741"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080990"^^xsd:string ; a owl:Class ; rdfs:label "King Denborough syndrome"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0080991 obo:IAO_0000115 "A myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form."^^xsd:string ; oboInOwl:hasDbXref "GARD:10316"^^xsd:string, "OMIM:255320"^^xsd:string, "ORDO:598"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080991"^^xsd:string ; a owl:Class ; rdfs:label "multiminicore disease"@en ; rdfs:subClassOf obo:DOID_423 . obo:DOID_0080992 obo:IAO_0000115 "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080992"^^xsd:string ; a owl:Class ; rdfs:label "rhabdomyolysis-myalgia syndrome"@en ; rdfs:subClassOf obo:DOID_423 . obo:DOID_0080994 obo:IAO_0000115 "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080994"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune epilepsy"@en ; rdfs:subClassOf obo:DOID_0060004, obo:DOID_1826, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_0080995 obo:IAO_0000115 "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080995"^^xsd:string ; a owl:Class ; rdfs:label "tuberculous encephalopathy"@en ; rdfs:subClassOf obo:DOID_399 . obo:DOID_0080996 obo:IAO_0000115 "A diffuse kage B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36081"^^xsd:string ; oboInOwl:hasExactSynonym "DLBCL ABC type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080996"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse large B-cell lymphoma activated B-cell type"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080997 obo:IAO_0000115 "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36080"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080997"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim ; a owl:Class ; rdfs:label "diffuse large B-cell lymphoma germinal center B-cell type"@en ; rdfs:subClassOf obo:DOID_0050745 . obo:DOID_0080998 obo:IAO_0000115 "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080998"^^xsd:string ; a owl:Class ; rdfs:label "acute necrotizing pancreatitis"@en ; rdfs:subClassOf obo:DOID_2913 . obo:DOID_0080999 obo:IAO_0000115 "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000081032"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0080999"^^xsd:string ; a owl:Class ; rdfs:label "acute hemorrhagic pancreatitis"@en ; rdfs:subClassOf obo:DOID_2913 . obo:DOID_0081000 obo:IAO_0000115 "A Cowden syndrome that has_material_ basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081000"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 4"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081001 obo:IAO_0000115 "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615108"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081001"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 5"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081002 obo:IAO_0000115 "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081002"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 6"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081003 obo:IAO_0000115 "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081003"^^xsd:string ; a owl:Class ; rdfs:label "Cowden syndrome 7"@en ; rdfs:subClassOf obo:DOID_6457 . obo:DOID_0081004 obo:IAO_0000115 "A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C125904"^^xsd:string ; oboInOwl:hasExactSynonym "HGBL-DH/TH"^^xsd:string, "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0081004"^^xsd:string ; a owl:Class ; rdfs:label "high-grade B-cell lymphoma double-hit/triple-hit"@en ; rdfs:subClassOf obo:DOID_707 . obo:DOID_0081005 obo:IAO_0000115 "A vegetable allergy triggered by parsley (Petroselinum)." ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081005" ; a owl:Class ; rdfs:label "parsley allergy"@en ; rdfs:subClassOf obo:DOID_0070334 . obo:DOID_0081006 obo:IAO_0000115 "A food allergy triggered by dill (Anethum graveolens)." ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081006" ; a owl:Class ; rdfs:label "dill allergy"@en ; rdfs:subClassOf obo:DOID_0070334 . obo:DOID_0081007 obo:IAO_0000115 "A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment." ; oboInOwl:hasDbXref "GARD:13199", "OMIM:612951", "ORDO:85136" ; oboInOwl:hasExactSynonym "cystic leukoencephalopathy without megalencephaly", "infantile-onset RNASET2 deficient cystic leukoencephalopathy" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081007" ; a owl:Class ; rdfs:label "RNASET2-deficient cystic leukoencephalopathy"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081008 obo:IAO_0000115 "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21." ; oboInOwl:hasDbXref "OMIM:617173", "ORDO:542306" ; oboInOwl:hasExactSynonym "GNB5-related intellectual disability-cardiac arrhythmia syndrome" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081008" ; a owl:Class ; rdfs:label "intellectual developmental disorder with cardiac arrhythmia"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081009 obo:IAO_0000115 "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23." ; oboInOwl:hasDbXref "OMIM:619471" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081009" ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 20"@en ; rdfs:subClassOf obo:DOID_1935, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081010 obo:IAO_0000115 "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22." ; oboInOwl:hasDbXref "OMIM:617406" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081010" ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 21"@en ; rdfs:subClassOf obo:DOID_1935, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081011 obo:IAO_0000115 "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21." ; oboInOwl:hasDbXref "OMIM:617119" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081011" ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 22"@en ; rdfs:subClassOf obo:DOID_1935, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081012 obo:IAO_0000115 "A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of lifesustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy." ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081012" ; a owl:Class ; rdfs:label "critical COVID-19"@en ; rdfs:subClassOf obo:DOID_0080600 . obo:DOID_0081013 obo:IAO_0000115 "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs." ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081013" ; a owl:Class ; rdfs:label "severe COVID-19"@en ; rdfs:subClassOf obo:DOID_0080600 . obo:DOID_0081014 obo:IAO_0000115 "A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19." ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081014" ; a owl:Class ; rdfs:label "non-severe COVID-19"@en ; rdfs:subClassOf obo:DOID_0080600 . obo:DOID_0081015 obo:IAO_0000115 "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12." ; oboInOwl:hasDbXref "OMIM:135700" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081015" ; a owl:Class ; rdfs:label "congenital fibrosis of the extraocular muscles 1"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080143, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0081016 obo:IAO_0000115 "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13." ; oboInOwl:hasDbXref "OMIM:602078" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081016" ; a owl:Class ; rdfs:label "congenital fibrosis of the extraocular muscles 2"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080143, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081017 obo:IAO_0000115 "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24." ; oboInOwl:hasDbXref "OMIM:600638" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081017" ; a owl:Class ; rdfs:label "congenital fibrosis of the extraocular muscles 3A"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080143, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0081019 obo:IAO_0000115 "A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11)." ; oboInOwl:hasDbXref "OMIM:609384" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081019" ; a owl:Class ; rdfs:label "congenital fibrosis of the extraocular muscles 3C"@en ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080143, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0081020 obo:IAO_0000115 "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25." ; oboInOwl:hasDbXref "OMIM:616219" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081020" ; a owl:Class ; rdfs:label "congenital fibrosis of the extraocular muscles 5"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080143, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0081021 obo:IAO_0000115 "A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left." ; oboInOwl:hasDbXref "GARD:9814", "OMIM:609428" ; oboInOwl:hasExactSynonym "congenital fibrosis of the extraocular muscles 4" ; oboInOwl:hasOBONamespace "disease_ontology" ; oboInOwl:id "DOID:0081021" ; a owl:Class ; rdfs:label "Tukel syndrome"@en ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080143, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090001 obo:IAO_0000115 "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:6465"^^xsd:string, "ICD10CM:Q87.0"^^xsd:string, "MESH:D058497"^^xsd:string, "OMIM:PS219000"^^xsd:string, "ORDO:2052"^^xsd:string ; oboInOwl:hasExactSynonym "cryptophthalmos with other malformations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090001"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090002 obo:IAO_0000115 "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:7772"^^xsd:string, "OMIM:103500"^^xsd:string, "ORDO:42665"^^xsd:string ; oboInOwl:hasExactSynonym "Tietz albinism-deafness syndrome"@en, "albinism-deafness of Tietz"@en, "hypopigmentation/deafness of Tietz"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090002"^^xsd:string ; a owl:Class ; rdfs:label "Tietz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090003 obo:IAO_0000115 "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060600"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:218000"^^xsd:string, "ORDO:1496"^^xsd:string ; oboInOwl:hasExactSynonym "Andermann syndrome"@en, "Charlevoix disease"@en, "corpus callosum agenesis-neuronopathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090003"^^xsd:string ; a owl:Class ; rdfs:label "agenesis of the corpus callosum with peripheral neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1289, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090004 obo:IAO_0000115 "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.7"^^xsd:string, "OMIM:208230"^^xsd:string, "ORDO:1159"^^xsd:string ; oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090004"^^xsd:string ; a owl:Class ; rdfs:label "progressive pseudorheumatoid arthropathy of childhood"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0090005 obo:IAO_0000115 "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:250"^^xsd:string, "ICD10CM:G71.1"^^xsd:string, "OMIM:255800"^^xsd:string, "ORDO:800"^^xsd:string ; oboInOwl:hasExactSynonym "Aberfeld syndrome"@en, "Burton skeletal dysplasia"@en, "Burton syndrome"@en, "Catel-Hempel syndrome"@en, "Catel-Hempel type dysostosis enchondralis metaepiphysaria"@en, "Schwartz-Jampel syndrome type 1"@en, "Schwartz-Jampel-Aberfeld syndrome"@en, "myotonic chondrodystrophy"@en, "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies"@en, "osteochondromuscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090005"^^xsd:string ; a owl:Class ; rdfs:label "Schwartz-Jampel syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090006 obo:IAO_0000115 "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:4106"^^xsd:string, "ICD10CM:Q60.4"^^xsd:string, "OMIM:120330"^^xsd:string, "ORDO:1475"^^xsd:string ; oboInOwl:hasExactSynonym "CAKUT with or without ocular abnormalities"@en, "coloboma of optic nerve with renal disease"@en, "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities"@en, "optic coloboma, vesicoureteral reflux and renal anomalies"@en, "papillo-renal syndrome, optic nerve coloboma with renal disease"@en, "papillorenal syndrome"@en, "renal-coloboma syndrome with macular abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090006"^^xsd:string ; a owl:Class ; rdfs:label "renal coloboma syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090007 obo:IAO_0000115 "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:PS242860"^^xsd:string, "ORDO:2268"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090007"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090008 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:242860"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090008"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090009 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:614069"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090009"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090010 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:616910"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090010"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090011 obo:IAO_0000115 "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D84.8"^^xsd:string, "OMIM:616911"^^xsd:string ; oboInOwl:hasExactSynonym "ICF syndrome 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090011"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0090007 . obo:DOID_0090012 obo:IAO_0000115 "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060006"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.1"^^xsd:string, "OMIM:602450"^^xsd:string, "ORDO:275"^^xsd:string ; oboInOwl:hasExactSynonym "SCID due to DCLRE1C deficiency"@en, "SCID due to artemis deficiency"@en, "SCID, Athabascan type"@en, "SCID, Athabaskan type"@en, "Severe combined immunodeficiency due to DCLRE1C deficiency"@en, "Severe combined immunodeficiency due to artemis deficiency"@en, "Severe combined immunodeficiency, Athabascan type"@en, "Severe combined immunodeficiency, Athabaskan type"@en, "artemis deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090012"^^xsd:string ; a owl:Class ; rdfs:label "severe combined immunodeficiency with sensitivity to ionizing radiation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090013 obo:IAO_0000115 "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.1"^^xsd:string, "OMIM:601457"^^xsd:string, "ORDO:331206"^^xsd:string ; oboInOwl:hasExactSynonym "SCID due to complete RAG1-2 deficiency"@en, "Severe combined immunodeficiency due to complete RAG1-2 deficiency"@en, "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090013"^^xsd:string ; a owl:Class ; rdfs:label "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090014 obo:IAO_0000115 "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D81.2"^^xsd:string, "OMIM:608971"^^xsd:string, "ORDO:169154"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090014"^^xsd:string ; a owl:Class ; rdfs:label "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090015 obo:IAO_0000115 "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:5084"^^xsd:string, "ICD10CM:Q78.4"^^xsd:string, "OMIM:212780"^^xsd:string, "ORDO:3258"^^xsd:string ; oboInOwl:hasExactSynonym "syndactyly type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090015"^^xsd:string ; a owl:Class ; rdfs:label "Cenani-Lenz syndactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0090016 obo:IAO_0000115 "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q."^^xsd:string ; oboInOwl:hasDbXref "GARD:10840"^^xsd:string, "ICD10CM:D46.7"^^xsd:string, "OMIM:153550"^^xsd:string, "ORDO:86841"^^xsd:string ; oboInOwl:hasExactSynonym "5q- syndrome, refractory macrocytic anemia due to 5q deletion"@en, "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090016"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 5q deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0090017 obo:IAO_0000115 "An syndrome characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q81.0"^^xsd:string, "OMIM:226670"^^xsd:string, "ORDO:257"^^xsd:string ; oboInOwl:hasExactSynonym "epidermolysis bullosa simplex and limb-girdle muscular dystrophy"@en, "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090017"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex with muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090018 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:8457"^^xsd:string, "ICD10CM:E85.0"^^xsd:string, "OMIM:142680"^^xsd:string, "ORDO:32960"^^xsd:string ; oboInOwl:hasExactSynonym "TNF receptor 1-associated periodic syndrome"@en, "familial Hibernian fever"@en, "tumor necrosis factor receptor 1 associated periodic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090018"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant familial periodic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090019 obo:IAO_0000115 "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:7653"^^xsd:string, "MESH:C537345"^^xsd:string, "NCI:C125694"^^xsd:string, "OMIM:210250"^^xsd:string, "ORDO:2882"^^xsd:string, "SNOMEDCT_US_2021_03_01:238104009"^^xsd:string, "UMLS_CUI:C0342907"^^xsd:string ; oboInOwl:hasExactSynonym "phytosterolemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090019"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sitosterolemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090020 obo:IAO_0000115 "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting."^^xsd:string ; oboInOwl:hasDbXref "GARD:6319"^^xsd:string, "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:PS183600"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "lobster-claw deformity"@en, "split-hand deformity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090020"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090021 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "OMIM:183600"^^xsd:string, "ORDO:2440"^^xsd:string ; oboInOwl:hasExactSynonym "SHFD1"@en, "SHFM1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090021"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090022 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:606708"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090022"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090023 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:605289"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090023"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090024 obo:IAO_0000115 "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.2"^^xsd:string, "OMIM:220600"^^xsd:string, "ORDO:71271"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM1D"@en, "congenital deafness with split hands and feet"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090024"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 1 with sensorineural hearing loss"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090025 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:246560"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM3"@en, "chromosome 10q24 duplication syndrome"@en, "distal limb deficiencies with micrognathia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090025"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_0090020, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090026 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:225300"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090026"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090027 obo:IAO_0000115 "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q71.6"^^xsd:string, "ICD9CM:755.58"^^xsd:string, "MESH:C574275"^^xsd:string, "OMIM:313350"^^xsd:string, "ORDO:2440"^^xsd:string, "SNOMEDCT_US_2021_03_01:81208006"^^xsd:string, "UMLS_CUI:C0265554"^^xsd:string ; oboInOwl:hasExactSynonym "SHFM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090027"^^xsd:string ; a owl:Class ; rdfs:label "split hand-foot malformation 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0090020, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0090028 obo:IAO_0000115 "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535393"^^xsd:string, "NCI:C155996"^^xsd:string, "OMIM:277460"^^xsd:string, "ORDO:96"^^xsd:string, "SNOMEDCT_US_2021_03_01:702442008"^^xsd:string, "UMLS_CUI:C1848533"^^xsd:string ; oboInOwl:hasExactSynonym "ataxia with isolated vitamin E deficiency"@en, "familial isolated vitamin E deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090028"^^xsd:string ; a owl:Class ; rdfs:label "familial isolated deficiency of vitamin E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090029 obo:IAO_0000115 "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E85.0"^^xsd:string, "OMIM:607115"^^xsd:string, "ORDO:1451"^^xsd:string ; oboInOwl:hasExactSynonym "IOMID syndrome"@en, "NOMID syndrome"@en, "Prieur-Griscelli syndrome"@en, "chronic infantile neurological cutaneous articular syndrome"@en, "chronic neurologic cutaneous and articular syndrome"@en, "cryopyrin-associated periodic syndrome 3"@en, "infantile-onset multisystem inflammatory disease"@en, "neonatal-onset multisystem inflammatory disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090029"^^xsd:string ; a owl:Class ; rdfs:label "CINCA Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090030 obo:IAO_0000115 "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:13101"^^xsd:string, "ICD10CM:E27.8"^^xsd:string, "OMIM:611489"^^xsd:string, "ORDO:199247"^^xsd:string ; oboInOwl:hasExactSynonym "CBG deficiency"@en, "transcortin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090030"^^xsd:string ; a owl:Class ; rdfs:label "corticosteroid-binding globulin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_9553, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0090031 obo:IAO_0000115 "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4539"^^xsd:string, "ICD10CM:E71.3"^^xsd:string, "OMIM:261515"^^xsd:string, "ORDO:300"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090031"^^xsd:string ; a owl:Class ; rdfs:label "D-bifunctional protein deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090032 obo:IAO_0000115 "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.7"^^xsd:string, "OMIM:224410"^^xsd:string, "ORDO:1865"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090032"^^xsd:string ; a owl:Class ; rdfs:label "Silverman-Handmaker type dyssegmental dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090033 obo:IAO_0000115 "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090033"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_543 . obo:DOID_0090034 obo:IAO_0000115 "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:159900"^^xsd:string, "ORDO:36899"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090034"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090035 obo:IAO_0000115 "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607488"^^xsd:string, "ORDO:210566"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090035"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090036 obo:IAO_0000115 "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090036"^^xsd:string ; a owl:Class ; rdfs:label "myoclonic dystonia 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090033, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090037 obo:IAO_0000115 "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:607671"^^xsd:string, "ORDO:98807"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090037"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090038 obo:IAO_0000115 "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:224500"^^xsd:string, "ORDO:99657"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090038"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090039 obo:IAO_0000115 "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:602629"^^xsd:string, "ORDO:98806"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090039"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050835, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090040 obo:IAO_0000115 "A focal dystonia that is characterized by predomiantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602124"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090040"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090041 obo:IAO_0000115 "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128101"^^xsd:string, "ORDO:98805"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090041"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090042 obo:IAO_0000115 "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:612406"^^xsd:string, "ORDO:370103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090042"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090043 obo:IAO_0000115 "A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128230"^^xsd:string, "ORDO:98808"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090043"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090044 obo:IAO_0000115 "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:601042"^^xsd:string, "ORDO:53583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090044"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0090045 obo:IAO_0000115 "A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:612126"^^xsd:string, "ORDO:98811"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090045"^^xsd:string ; a owl:Class ; rdfs:label "childhood onset GLUT1 deficiency syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0090046 obo:IAO_0000115 "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:614588"^^xsd:string, "ORDO:306734"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090046"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090047 obo:IAO_0000115 "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:611147"^^xsd:string, "ORDO:98810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090047"^^xsd:string ; a owl:Class ; rdfs:label "paroxysmal nonkinesigenic dyskinesia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0090048 obo:IAO_0000115 "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10539"^^xsd:string, "ICD10CM:G24.1"^^xsd:string, "OMIM:612067"^^xsd:string, "ORDO:210571"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090048"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050837, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090049 obo:IAO_0000115 "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:118800"^^xsd:string, "ORDO:98810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090049"^^xsd:string ; a owl:Class ; rdfs:label "paroxysmal nonkinesigenic dyskinesia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_0090050 obo:IAO_0000115 "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:616411"^^xsd:string, "ORDO:464440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090050"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050838, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090051 obo:IAO_0000115 "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:614860"^^xsd:string, "ORDO:420492"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090051"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090052 obo:IAO_0000115 "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:615034"^^xsd:string, "ORDO:420485"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090052"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050836, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090053 obo:IAO_0000115 "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:8721"^^xsd:string, "ICD10CM:G24.8"^^xsd:string, "OMIM:128200"^^xsd:string, "ORDO:98809"^^xsd:string ; oboInOwl:hasExactSynonym "Paroxysmal kinesigenic choreoathetosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090053"^^xsd:string ; a owl:Class ; rdfs:label "episodic kinesigenic dyskinesia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090054 obo:IAO_0000115 "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.8"^^xsd:string, "OMIM:611031"^^xsd:string, "ORDO:98809"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090054"^^xsd:string ; a owl:Class ; rdfs:label "episodic kinesigenic dyskinesia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090055 obo:IAO_0000115 "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:615073"^^xsd:string, "ORDO:329466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090055"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050837, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090056 obo:IAO_0000115 "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:128235"^^xsd:string, "ORDO:71517"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090056"^^xsd:string ; a owl:Class ; rdfs:label "dystonia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090057 obo:IAO_0000115 "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10533"^^xsd:string, "ICD10CM:G24.1"^^xsd:string, "OMIM:314250"^^xsd:string, "ORDO:53351"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090057"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dystonia-parkinsonism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050836, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0090058 obo:IAO_0000115 "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G24.1"^^xsd:string, "OMIM:602554"^^xsd:string, "ORDO:256"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090058"^^xsd:string ; a owl:Class ; rdfs:label "torsion dystonia with onset in infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050835, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090059 obo:IAO_0000115 "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564835"^^xsd:string, "OMIM:268100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090059"^^xsd:string ; a owl:Class ; rdfs:label "enhanced S-cone syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5679, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090060 obo:IAO_0000115 "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E13"^^xsd:string, "MESH:C536739"^^xsd:string, "OMIM:226980"^^xsd:string, "ORDO:1667"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090060"^^xsd:string ; a owl:Class ; rdfs:label "Wolcott-Rallison syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ] . obo:DOID_0090061 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:PS120100"^^xsd:string, "ORDO:47045"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090061"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0090062 obo:IAO_0000115 "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:120100"^^xsd:string, "ORDO:47045"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090062"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090063 obo:IAO_0000115 "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567090"^^xsd:string, "OMIM:611762"^^xsd:string ; oboInOwl:hasExactSynonym "NLRP12-associated hereditary periodic fever syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090063"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090064 obo:IAO_0000115 "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:614468"^^xsd:string, "ORDO:300359"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090064"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090065 obo:IAO_0000115 "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.2"^^xsd:string, "OMIM:616115"^^xsd:string, "ORDO:47045"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090065"^^xsd:string ; a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090061, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090066 obo:IAO_0000115 "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090066"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi-like syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0090067 obo:IAO_0000115 "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "GARD:2410"^^xsd:string, "ICD10CM:Q74.8"^^xsd:string, "MESH:C538189"^^xsd:string, "OMIM:228930"^^xsd:string, "ORDO:2854"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090067"^^xsd:string ; a owl:Class ; rdfs:label "Fuhrmann syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090068 obo:IAO_0000115 "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056768"^^xsd:string, "OMIM:256850"^^xsd:string, "ORDO:643"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090068"^^xsd:string ; a owl:Class ; rdfs:label "giant axonal neuropathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_7319, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090069 obo:IAO_0000115 "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090069"^^xsd:string ; a owl:Class ; rdfs:label "giant axonal neuropathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_7319, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0090070 obo:IAO_0000115 "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7455"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:PS147950"^^xsd:string, "ORDO:432"^^xsd:string, "ORDO:478"^^xsd:string ; oboInOwl:hasExactSynonym "congenital idiopathic hypogonadotropic hypogonadism"@en, "hypogonadotropism"^^xsd:string, "isolated congenital gonadotropin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090070"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism"^^xsd:string ; rdfs:subClassOf obo:DOID_1924 . obo:DOID_0090071 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614840"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090071"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 11 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090072 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614841"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypogonadotrophic eunuchoidism"@en, "familial idiopathic gonadotrpin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090072"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 12 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090073 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614842"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090073"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 13 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090074 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614837"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090074"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 8 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090075 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614880"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090075"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 15 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090076 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615267"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090076"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 18 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090077 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:610628"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090077"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 4 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090078 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:146110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090078"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 7 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090079 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615266"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090079"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 17 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090080 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614897"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090080"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 16 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090081 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:616030"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090081"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 22 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090082 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090082"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 20 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090083 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:147950"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090083"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 2 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090084 obo:IAO_0000115 "A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:612370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090084"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 5 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090085 obo:IAO_0000115 "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614838"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090085"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 9 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090086 obo:IAO_0000115 "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:612702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090086"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 6 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090087 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614858"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090087"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 14 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090088 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.6"^^xsd:string, "OMIM:229070"^^xsd:string, "ORDO:52901"^^xsd:string ; oboInOwl:hasExactSynonym "isolated follicle-stimulating hormone deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090088"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 24 without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090089 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:614839"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090089"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 10 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090090 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615269"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090090"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 19 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090091 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q56.1"^^xsd:string, "OMIM:228300"^^xsd:string, "ORDO:325448"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to LHB deficiency"@en, "46,XY DSD due to luteinizing hormone subunit beta deficiency"@en, "46,XY disorder of sex development due to LHB deficiency"@en, "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency"@en, "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"@en, "Pasqualini syndrome"@en, "fertile eunuch syndrome"@en, "leydig cell hypoplasia due to LHB deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090091"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 23 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090092 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:244200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090092"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 3 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090093 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:615271"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090093"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 21 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090094 obo:IAO_0000115 "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E23.0"^^xsd:string, "OMIM:308700"^^xsd:string ; oboInOwl:hasExactSynonym "dysplasia olfactogenitalis of de morsier"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090094"^^xsd:string ; a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 1 with or without anosmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0090070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0090100 obo:IAO_0000115 "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E70.3"^^xsd:string, "ORDO:352740"^^xsd:string ; oboInOwl:hasExactSynonym "WS2-OA"@en, "autosomal recessive Waardenburg syndrome type 2 with ocular albinism"@en, "digenic Waardenburg syndrome/albinism"@en, "digenic Waardenburg syndrome/ocular albinism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090100"^^xsd:string ; a owl:Class ; rdfs:label "ocular albinism with sensorineural deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050633, obo:DOID_0050736, obo:DOID_0080578, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0090101 obo:IAO_0000115 "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0+"^^xsd:string, "ICD10CM:G73.6*"^^xsd:string, "OMIM:261740"^^xsd:string, "ORDO:439854"^^xsd:string ; oboInOwl:hasExactSynonym "fatal congenital hypertrophic cardiomyopathy due to GSD"@en, "fatal congenital hypertrophic cardiomyopathy due to glycogenosis"@en, "fatal congenital nonlysosomal cardiac glycogenosis"@en, "phosphorylase kinase deficiency of heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090101"^^xsd:string ; a owl:Class ; rdfs:label "lethal congenital glycogen storage disease of heart"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2747, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090102 obo:IAO_0000115 "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:613112"^^xsd:string, "ORDO:140957"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090102"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant macrothrombocytopenia TUBB1-related"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1588, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090103 obo:IAO_0000115 "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G10"^^xsd:string, "OMIM:603218"^^xsd:string, "ORDO:157941"^^xsd:string ; oboInOwl:hasExactSynonym "HDL1"@en, "HLN1"@en, "Huntington disease-like 1"@en, "Huntington-like neurodegenerative disorder 1"@en, "autosomal dominant Huntington-like neurodegenerative disorder"@en, "early-onset prion disease with prominent psychiatric features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090103"^^xsd:string ; a owl:Class ; rdfs:label "Huntington's disease-like 1"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_0090104 obo:IAO_0000115 "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G10"^^xsd:string, "OMIM:606438"^^xsd:string, "ORDO:98934"^^xsd:string ; oboInOwl:hasExactSynonym "HDL2"@en, "Huntington disease-like 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090104"^^xsd:string ; a owl:Class ; rdfs:label "Huntington's disease-like 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0090105 obo:IAO_0000115 "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E78.0"^^xsd:string, "OMIM:603813"^^xsd:string, "ORDO:391665"^^xsd:string ; oboInOwl:hasExactSynonym "ARH"@en, "ARH1"@en, "ARH2"@en, "FHCB1"@en, "FHCB2"@en, "autosomal recessive hypercholesterolemia 1"@en, "autosomal recessive hypercholesterolemia 2"@en, "familial autosomal recessive hypercholesterolemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090105"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive hypercholesterolemia"^^xsd:string ; rdfs:subClassOf obo:DOID_13810, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090106 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5682"^^xsd:string, "MESH:C535325"^^xsd:string, "NCI:C138171"^^xsd:string, "OMIM:261640"^^xsd:string, "ORDO:13"^^xsd:string, "SNOMEDCT_US_2021_03_01:237914002"^^xsd:string, "UMLS_CUI:C0878676"^^xsd:string ; oboInOwl:hasExactSynonym "6-pyruvoyl-tetrahydropterin synthase deficiency"@en, "HPABH4A"@en, "PTS deficiency"@en, "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"@en, "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090106"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "BH4-deficient hyperphenylalaninemia A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090107 obo:IAO_0000115 "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601198"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090107"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypocalcemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090109 . obo:DOID_0090108 obo:IAO_0000115 "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615361"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090108"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypocalcemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090109 . obo:DOID_0090109 obo:IAO_0000115 "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone."^^xsd:string ; oboInOwl:hasDbXref "GARD:2877"^^xsd:string, "ICD10CM:E20.8"^^xsd:string, "OMIM:PS601198"^^xsd:string, "ORDO:428"^^xsd:string ; oboInOwl:hasExactSynonym "HYPOC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090109"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hypocalcemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090110 obo:IAO_0000115 "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "GARD:1850"^^xsd:string, "ICD10CM:E31.0"^^xsd:string, "OMIM:304790"^^xsd:string, "ORDO:37042"^^xsd:string ; oboInOwl:hasExactSynonym "Autoimmune enteropathy type 1"@en, "DMSD"@en, "IDDM-secretory diarrhea syndrome"@en, "IPEX"@en, "X-linked autoimmunity-allergic dysregulation syndrome"@en, "XLAAD"@en, "XPID"@en, "autoimmunity-immunodeficiency syndrome, X-linked"@en, "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea"@en, "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked"@en, "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked"@en, "immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090110"^^xsd:string ; a owl:Class ; rdfs:label "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0090111 obo:IAO_0000115 "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:609136"^^xsd:string, "ORDO:163746"^^xsd:string ; oboInOwl:hasExactSynonym "Neurologic Waardenburg-Shah syndrome"@en, "PCWH"@en, "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease"@en, "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090111"^^xsd:string ; a owl:Class ; rdfs:label "PCWH syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090112 obo:IAO_0000115 "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9921"^^xsd:string, "MESH:C536329"^^xsd:string, "OMIM:221770"^^xsd:string, "ORDO:2770"^^xsd:string, "SNOMEDCT_US_2021_03_01:702347001"^^xsd:string, "UMLS_CUI:C1857316"^^xsd:string ; oboInOwl:hasExactSynonym "NHD"@en, "PLO-SL"@en, "PLOSL"@en, "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"@en, "presenile dementia with bone cysts"@en, "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090112"^^xsd:string ; a owl:Class ; rdfs:label "Nasu-Hakola disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090113 obo:IAO_0000115 "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D82.8"^^xsd:string, "MESH:C567453"^^xsd:string, "OMIM:611943"^^xsd:string, "ORDO:420741"^^xsd:string ; oboInOwl:hasExactSynonym "RNF168 deficiency"@en, "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090113"^^xsd:string ; a owl:Class ; rdfs:label "RIDDLE syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090114 obo:IAO_0000115 "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:136900"^^xsd:string ; oboInOwl:hasExactSynonym "SFD"@en, "hemorrhagic macular dystrophy"@en, "pseudoinflammatory fundus dystrophy of Sorsby"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090114"^^xsd:string ; a owl:Class ; rdfs:label "Sorsby's fundus dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8500, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090115 obo:IAO_0000115 "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10000"^^xsd:string, "ICD10CM:G60.2"^^xsd:string, "OMIM:607250"^^xsd:string, "ORDO:94124"^^xsd:string ; oboInOwl:hasExactSynonym "SCAN1"@en, "autosomal recessive spinocerebellar ataxia with axonal neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090115"^^xsd:string ; a owl:Class ; rdfs:label "spinocerebellar ataxia type 1 with axonal neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090116 obo:IAO_0000115 "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4974"^^xsd:string, "ICD10CM:Q76.4"^^xsd:string, "OMIM:272460"^^xsd:string, "ORDO:3275"^^xsd:string ; oboInOwl:hasExactSynonym "SCT"@en, "congenital scoliosis with unilateral unsegmented bar"@en, "congenital synspondylism"@en, "spondylocarpotarsal syndrome"@en, "spondylocarpotarsal synostosis"@en, "vertebral fusion with carpal coalition"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090116"^^xsd:string ; a owl:Class ; rdfs:label "spondylocarpotarsal synostosis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060564, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0090117 obo:IAO_0000115 "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9210"^^xsd:string, "MESH:C536510"^^xsd:string, "OMIM:249270"^^xsd:string, "ORDO:498277"^^xsd:string, "SNOMEDCT_US_2021_03_01:237617006"^^xsd:string, "UMLS_CUI:C0342287"^^xsd:string ; oboInOwl:hasExactSynonym "Rogers syndrome"@en, "THMD1"@en, "TRMA"@en, "thiamine metabolism dysfunction syndrome 1"@en, "thiamine-responsive anaemia syndrome"@en, "thiamine-responsive anemia syndrome"@en, "thiamine-responsive megaloblastic anaemia syndrome"@en, "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness"@en, "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness"@en, "thiamine-responsive myelodysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090117"^^xsd:string ; a owl:Class ; rdfs:label "thiamine-responsive megaloblastic anemia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090118 obo:IAO_0000115 "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "GARD:640"^^xsd:string, "MESH:C535982"^^xsd:string, "NCI:C115207"^^xsd:string, "OMIM:604498"^^xsd:string, "ORDO:3319"^^xsd:string, "SNOMEDCT_US_2021_03_01:716336002"^^xsd:string, "UMLS_CUI:C1327915"^^xsd:string ; oboInOwl:hasExactSynonym "CAMT"@en, "congenital amegakaryocytic thrombocytopenic purpura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital amegakaryocytic thrombocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_1588, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0090119 obo:IAO_0000115 "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535289"^^xsd:string, "OMIM:106260"^^xsd:string, "ORDO:1071"^^xsd:string, "SNOMEDCT_US_2021_03_01:7731005"^^xsd:string, "UMLS_CUI:C1785148"^^xsd:string ; oboInOwl:hasExactSynonym "AEC syndrome"@en, "Hay-Wells syndrome"@en, "ankyloblepharon-ectodermal defects-cleft lip and palate syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090119"^^xsd:string ; a owl:Class ; rdfs:label "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090120 obo:IAO_0000115 "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563010"^^xsd:string, "OMIM:162830"^^xsd:string, "ORDO:279943"^^xsd:string, "SNOMEDCT_US_2021_03_01:129639005"^^xsd:string, "UMLS_CUI:C0543669"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090120"^^xsd:string ; a owl:Class ; rdfs:label "hereditary neutrophilia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9500, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090121 obo:IAO_0000115 "An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16."^^xsd:string ; oboInOwl:hasExactSynonym "Ulick syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090121"^^xsd:string ; a owl:Class ; rdfs:label "obsolete apparent mineralocorticoid excess"^^xsd:string ; owl:deprecated true . obo:DOID_0090122 obo:IAO_0000115 "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:12949"^^xsd:string, "ICD10CM:E30.1"^^xsd:string, "OMIM:139300"^^xsd:string, "ORDO:178345"^^xsd:string ; oboInOwl:hasExactSynonym "AEXS"@en, "familial hyperestrogenism"@en, "hereditary prepubertal gynecomastia"@en, "increased aromatase activity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090122"^^xsd:string ; a owl:Class ; rdfs:label "aromatase excess syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_15 . obo:DOID_0090123 obo:IAO_0000115 "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:770"^^xsd:string, "ICD10CM:E70.81"^^xsd:string, "MESH:C537437"^^xsd:string, "NCI:C142085"^^xsd:string, "OMIM:608643"^^xsd:string, "ORDO:35708"^^xsd:string, "SNOMEDCT_US_2021_03_01:124600004"^^xsd:string, "UMLS_CUI:C1291564"^^xsd:string ; oboInOwl:hasExactSynonym "AADC deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090123"^^xsd:string ; a owl:Class ; rdfs:label "aromatic L-amino acid decarboxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090124 obo:IAO_0000115 "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536614"^^xsd:string, "OMIM:208100"^^xsd:string, "ORDO:1143"^^xsd:string, "SNOMEDCT_US_2021_03_01:715316005"^^xsd:string, "UMLS_CUI:C1859721"^^xsd:string ; oboInOwl:hasExactSynonym "AMC neurogenic type"@en, "AMC2"^^xsd:string, "AMCN"@en, "arthrogryposis multiplex congenita 2, neurogenic type"^^xsd:string, "arthrogryposis multiplex congenita neurogenic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090124"^^xsd:string ; a owl:Class ; rdfs:label "neurogenic-type arthrogryposis multiplex congenita-2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080954, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090125 obo:IAO_0000115 "A brain disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:175780"^^xsd:string, "ORDO:36383"^^xsd:string ; oboInOwl:hasExactSynonym "BSVD"@en, "COL4A1-related brain small vessel disease with hemorrhage"@en, "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome"@en, "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy"@en, "brain small vessel disease with Axenfeld-Riegar anomaly"@en, "brain small vessel disease with hemorrhage"@en, "brain small vessel disease with or without ocular anomalies"@en, "infantile hemiparesis"@en, "leukoencephalopathy with Axenfeld-Riegar anomaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090125"^^xsd:string ; a owl:Class ; rdfs:label "COL4A1-related familial vascular leukoencephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090126 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.1"^^xsd:string, "OMIM:614923"^^xsd:string, "ORDO:308410"^^xsd:string ; oboInOwl:hasExactSynonym "BCKDK deficiency"@en, "BCKDKD"@en, "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090126"^^xsd:string ; a owl:Class ; rdfs:label "branched-chain keto acid dehydrogenase kinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090127 obo:IAO_0000115 "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537560"^^xsd:string, "OMIM:208250"^^xsd:string, "ORDO:2848"^^xsd:string, "SNOMEDCT_US_2021_03_01:771187008"^^xsd:string, "UMLS_CUI:C1859690"^^xsd:string ; oboInOwl:hasExactSynonym "CACP"@en, "CACP syndrome"@en, "CAP syndrome"@en, "Jacobs syndrome"@en, "PAC syndrome"@en, "arthropathy-camptodactyly syndrome"@en, "camptodactyly-arthropathy-pericarditis syndrome"@en, "congenital familial hypertrophic synovitis"@en, "familial fibrosing serositis"@en, "pericarditis-arthropathy-camptodactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090127"^^xsd:string ; a owl:Class ; rdfs:label "camptodactyly-arthropathy-coxa vara-pericarditis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000876 ] . obo:DOID_0090128 obo:IAO_0000115 "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24."^^xsd:string ; oboInOwl:hasDbXref "GARD:5595"^^xsd:string, "OMIM:605676"^^xsd:string, "ORDO:65282"^^xsd:string ; oboInOwl:hasExactSynonym "DCWHK"@en, "dilated cardiomyopathy with woolly hair and keratoderma"@en, "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090128"^^xsd:string ; a owl:Class ; rdfs:label "Carvajal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080551 . obo:DOID_0090129 obo:IAO_0000115 "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:1120"^^xsd:string, "ICD10CM:E71.3"^^xsd:string, "OMIM:255120"^^xsd:string, "ORDO:156"^^xsd:string ; oboInOwl:hasExactSynonym "CPT I deficiency"@en, "CPT1A deficiency"@en, "L-CPT1 deficiency"@en, "carnitine palmitoyl transferase 1A deficiency"@en, "carnitine palmitoyl transferase IA deficiency"@en, "hepatic CPT deficiency type I"@en, "hepatic carnitine palmitoyl transferase 1 deficiency"@en, "hepatic carnitine palmitoyl transferase I deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090129"^^xsd:string ; a owl:Class ; rdfs:label "carnitine palmitoyltransferase I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0090130 obo:IAO_0000115 "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.8"^^xsd:string, "OMIM:610042"^^xsd:string, "ORDO:163681"^^xsd:string ; oboInOwl:hasExactSynonym "CDFE syndrome"@en, "CDFES"@en, "PTHSL1"@en, "Pitt-Hopkins-like syndrome-1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090130"^^xsd:string ; a owl:Class ; rdfs:label "cortical dysplasia-focal epilepsy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090131 obo:IAO_0000115 "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS614039"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090131"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090132 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610031"^^xsd:string, "ORDO:300573"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM7"@en, "polymicrogyria due to TUBB2B mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090132"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090133 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615282"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090133"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090134 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615411"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090134"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090135 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615763"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090135"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090136 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615771"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090136"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090137 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:614039"^^xsd:string, "ORDO:300570"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM1"@en, "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090137"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090138 obo:IAO_0000115 "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615412"^^xsd:string ; oboInOwl:hasExactSynonym "CDCBM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090138"^^xsd:string ; a owl:Class ; rdfs:label "complex cortical dysplasia with other brain malformations 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0090131 . obo:DOID_0090139 obo:IAO_0000115 "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."^^xsd:string ; oboInOwl:hasDbXref "GARD:9882"^^xsd:string, "MESH:C536447"^^xsd:string, "OMIM:PS604931"^^xsd:string ; oboInOwl:hasExactSynonym "CORTRD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090139"^^xsd:string ; a owl:Class ; rdfs:label "cortisone reductase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_28 . obo:DOID_0090140 obo:IAO_0000115 "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "NCI:C131084"^^xsd:string, "OMIM:614662"^^xsd:string ; oboInOwl:hasExactSynonym "CORTRD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cortisone reductase deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0090139, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0090141 obo:IAO_0000115 "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "NCI:C131849"^^xsd:string, "OMIM:604931"^^xsd:string ; oboInOwl:hasExactSynonym "CORTRD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090141"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cortisone reductase deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0090139, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090142 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "GARD:2428"^^xsd:string, "ICD10CM:E72.19"^^xsd:string, "MESH:C535408"^^xsd:string, "NCI:C129070"^^xsd:string, "OMIM:219500"^^xsd:string, "ORDO:212"^^xsd:string, "SNOMEDCT_US_2021_03_01:13003007"^^xsd:string, "SNOMEDCT_US_2021_03_01:6885006"^^xsd:string, "UMLS_CUI:C0220993"^^xsd:string, "UMLS_CUI:C0268616"^^xsd:string ; oboInOwl:hasExactSynonym "cystathionase deficiency"@en, "cystathione gamma-lyase deficiency syndrome"@en, "gamma-cystathionase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090142"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystathioninuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090143 obo:IAO_0000115 "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5478"^^xsd:string, "ICD10CM:Q76.3"^^xsd:string, "OMIM:601216"^^xsd:string, "ORDO:2899"^^xsd:string ; oboInOwl:hasExactSynonym "DASS"@en, "STHAG6"@en, "dental anomalies and short stature"@en, "platyspondyly with amelogenesis imperfecta"@en, "selective tooth agenesis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090143"^^xsd:string ; a owl:Class ; rdfs:label "brachyolmia-amelogenesis imperfecta syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090144 obo:IAO_0000115 "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1899"^^xsd:string, "MESH:C536390"^^xsd:string, "OMIM:222448"^^xsd:string, "ORDO:2143"^^xsd:string, "SNOMEDCT_US_2021_03_01:702418009"^^xsd:string, "UMLS_CUI:C1857277"^^xsd:string ; oboInOwl:hasExactSynonym "DBS/FOAR syndrome"@en, "FOAR syndrome"@en, "Holmes-Schepens syndrome"@en, "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria"@en, "diaphragmatic hernia-exomphalos-hypertelorism syndrome"@en, "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome"@en, "facio-oculo-acoustico-renal syndrome"@en, "faciooculoacousticorenal syndrome"@en, "syndrome of ocular and facial anomalies, telecanthus and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090144"^^xsd:string ; a owl:Class ; rdfs:label "Donnai-Barrow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0090145 obo:IAO_0000115 "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:1903"^^xsd:string, "MESH:C535600"^^xsd:string, "OMIM:223360"^^xsd:string, "ORDO:230"^^xsd:string, "SNOMEDCT_US_2021_03_01:237923004"^^xsd:string, "UMLS_CUI:C0342687"^^xsd:string ; oboInOwl:hasExactSynonym "congenital dopamine beta-hydroxylase deficiency"@en, "noradrenaline deficiency"@en, "norepinephrine deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0090145"^^xsd:string ; a owl:Class ; rdfs:label "dopamine beta-hydroxylase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_655, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001016 ] . obo:DOID_0110000 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610198"^^xsd:string, "ORDO:66634"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type V"@en, "DCMA"@en, "DCMA syndrome"@en, "MGA5"@en, "MGCA5"@en, "dilated cardiomyopathy with ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110000"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110001 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614739"^^xsd:string, "ORDO:352328"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type 6"@en, "MEGDEL"@en, "MEGDEL syndrome"@en, "MGCA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110001"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110002 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:250950"^^xsd:string, "ORDO:67046"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type I"@en, "3-methylglutaconyl-CoA hydratase deficiency"@en, "3MG-CoA hydratase deficiency"@en, "MGA type I"@en, "MGA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110002"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110003 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616271"^^xsd:string, "ORDO:445038"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type 7"@en, "3-methylglutaconic aciduria type VII"@en, "MEGCANN"@en, "MGA7"@en, "MGCA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110003"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110004 obo:IAO_0000115 "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258501"^^xsd:string, "ORDO:67047"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type III"@en, "Costeff optic atrophy syndrome"@en, "Costeff syndrome"@en, "Iraqi-Jewish optic atrophy plus"@en, "MGA3"@en, "autosomal recessive optic atrophy plus syndrome"@en, "autosomal recessive optic atrophy type 3"@en, "infantile optic atrophy with chorea and spastic paraplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110004"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060336, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110005 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:608553"^^xsd:string ; oboInOwl:hasExactSynonym "LCA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110005"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110006 obo:IAO_0000115 "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid."^^xsd:string ; oboInOwl:hasDbXref "OMIM:250951"^^xsd:string, "ORDO:67048"^^xsd:string ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type IV"@en, "MGA type IV"@en, "MGA4"@en, "MGCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110006"^^xsd:string ; a owl:Class ; rdfs:label "3-methylglutaconic aciduria type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060336 . obo:DOID_0110007 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:9649"^^xsd:string, "OMIM:216900"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM2"@en, "RMCH2"@en, "rod monochromacy 2"@en, "rod monochromatism 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110007"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110008 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9650"^^xsd:string, "OMIM:262300"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM1"@en, "ACHM3"@en, "Pingelapese blindness"@en, "RMCH1"@en, "rod monochromacy 1"@en, "rod monochromatism 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110008"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110009 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616517"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110009"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13911, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110010 obo:IAO_0000115 "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613856"^^xsd:string ; oboInOwl:hasExactSynonym "ACHM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110010"^^xsd:string ; a owl:Class ; rdfs:label "achromatopsia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_13911 . obo:DOID_0110011 obo:IAO_0000115 "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604348"^^xsd:string ; oboInOwl:hasExactSynonym "FASPS1"@en, "familial advanced sleep phase syndrome 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110011"^^xsd:string ; a owl:Class ; rdfs:label "advanced sleep phase syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050628 . obo:DOID_0110012 obo:IAO_0000115 "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615224"^^xsd:string ; oboInOwl:hasExactSynonym "FASPS2"@en, "familial advanced sleep phase syndrome 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110012"^^xsd:string ; a owl:Class ; rdfs:label "advanced sleep phase syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050628 . obo:DOID_0110013 obo:IAO_0000115 "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616882"^^xsd:string ; oboInOwl:hasExactSynonym "FASPS3"@en, "familial advanced sleep phase syndrome 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110013"^^xsd:string ; a owl:Class ; rdfs:label "advanced sleep phase syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050628 . obo:DOID_0110014 obo:IAO_0000115 "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603075"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD1"@en, "age related maculopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110014"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 1"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110015 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:153800"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110015"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 2"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110016 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:204100"^^xsd:string ; oboInOwl:hasExactSynonym "LCA2"@en, "amaurosis congenita of Leber II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110016"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110017 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610698"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110017"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 4"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110018 obo:IAO_0000115 "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613757"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110018"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110019 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610149"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110019"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110020 obo:IAO_0000115 "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613778"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110020"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 8"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110021 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611378"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110021"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 9"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110022 obo:IAO_0000115 "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611488"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110022"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 10"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110023 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611953"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110023"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 11"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110024 obo:IAO_0000115 "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613784"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110024"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 12"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110025 obo:IAO_0000115 "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615439"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110025"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 13"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110026 obo:IAO_0000115 "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615489"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110026"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 14"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110027 obo:IAO_0000115 "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615591"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110027"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 15"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110028 obo:IAO_0000115 "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613761"^^xsd:string ; oboInOwl:hasExactSynonym "ARMD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110028"^^xsd:string ; a owl:Class ; rdfs:label "age related macular degeneration 5"^^xsd:string ; rdfs:subClassOf obo:DOID_10871 . obo:DOID_0110029 obo:IAO_0000115 "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D56.0"^^xsd:string, "OMIM:141750"^^xsd:string, "ORDO:98791"^^xsd:string ; oboInOwl:hasExactSynonym "ATR syndrome linked to chromosome 16"@en, "ATR syndrome, deletion type"@en, "ATR-16 syndrome"@en, "alpha thalassemia-intellectual disability syndrome, deletion type"@en, "alpha thalassemia-retardation syndrome"@en, "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"@en, "alpha-thalassemia/mental retardation syndrome, deletion-type"@en, "alpha-thalassemia/mental retardation syndrome, type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110029"^^xsd:string ; a owl:Class ; rdfs:label "alpha thalassemia-intellectual disability syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_1099, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0110030 obo:IAO_0000115 "An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21."^^xsd:string ; oboInOwl:hasDbXref "GARD:5864"^^xsd:string, "ICD10CM:D56.0"^^xsd:string, "OMIM:301040"^^xsd:string, "ORDO:847"^^xsd:string ; oboInOwl:hasExactSynonym "ATR, nondeletion type"@en, "ATR-X syndrome"@en, "alpha-thalassemia/mental retardation syndrome nondeletion type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110030"^^xsd:string ; a owl:Class ; rdfs:label "alpha thalassemia-X-linked intellectual disability syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_1099, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110031 obo:IAO_0000115 "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D56.0"^^xsd:string, "OMIM:613978"^^xsd:string, "ORDO:93616"^^xsd:string ; oboInOwl:hasExactSynonym "HBH"@en, "alpha thalassemia, haemoglobin H type"@en, "alpha thalassemia, hemoglobin H type"@en, "alpha-thalassemia intermedia"@en, "haemoglobin H disease"@en, "haemoglobin H disease, deletional"@en, "hemoglobin H disease, deletional"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110031"^^xsd:string ; a owl:Class ; rdfs:label "hemoglobin H disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1099 . obo:DOID_0110032 obo:IAO_0000115 "An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:624"^^xsd:string, "OMIM:104200"^^xsd:string, "ORDO:88918"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110032"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10983, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110033 obo:IAO_0000115 "An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q."^^xsd:string ; oboInOwl:hasDbXref "GARD:625"^^xsd:string, "OMIM:203780"^^xsd:string, "ORDO:88919"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110033"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10983, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110034 obo:IAO_0000115 "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301050"^^xsd:string, "ORDO:88917"^^xsd:string ; oboInOwl:hasExactSynonym "nephropathy and deafness, X-linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110034"^^xsd:string ; a owl:Class ; rdfs:label "X-linked Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_10983, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110035 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:104310"^^xsd:string ; oboInOwl:hasExactSynonym "AD2"@en, "Alzheimer disease 2, late onset"@en, "Alzheimer disease associated with APOE4"@en, "Alzheimer disease-2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110035"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110036 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300756"^^xsd:string ; oboInOwl:hasExactSynonym "AD16"@en, "Alzheimer's disease 16, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110036"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 16"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110037 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:602096"^^xsd:string ; oboInOwl:hasExactSynonym "AD5"@en, "Alzheimer disease 5"@en, "Alzheimer disease, familial 5"@en, "Alzheimer's disease 5, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110037"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110038 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:605526"^^xsd:string ; oboInOwl:hasExactSynonym "AD6"@en, "Alzheimer disease 6"@en, "Alzheimer disease 6, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110038"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110039 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:606187"^^xsd:string ; oboInOwl:hasExactSynonym "AD7"@en, "Alzheimer disease 7"@en, "Alzheimer disease, familial 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110039"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110040 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606889"^^xsd:string ; oboInOwl:hasExactSynonym "AD4"@en, "Alzheimer disease 4"@en, "Alzheimer disease, familial4"@en, "Alzheimer's disease 4, early onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110040"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110041 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:607116"^^xsd:string ; oboInOwl:hasExactSynonym "AD8"@en, "Alzheimer disease 8"@en, "Alzheimer disease, familial 8"@en, "Alzheimer's disease 8, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110041"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 8"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110042 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607822"^^xsd:string ; oboInOwl:hasExactSynonym "AD3"@en, "Alzheimer disease 3"@en, "Alzheimer disease 3, early onset"@en, "Alzheimer disease familial 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110042"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110043 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:609636"^^xsd:string ; oboInOwl:hasExactSynonym "AD10"@en, "Alzheimer disease 10"@en, "Alzheimer disease familial 10"@en, "Alzheimer's disease 10, early onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110043"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 10"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110044 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:609790"^^xsd:string ; oboInOwl:hasExactSynonym "AD11"@en, "Alzheimer disease 11"@en, "Alzheimer's disease 11, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110044"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 11"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110045 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:611073"^^xsd:string ; oboInOwl:hasExactSynonym "AD12"@en, "Alzheimer disease 12"@en, "Alzheimer disease familial 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110045"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 12"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110046 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:611152"^^xsd:string ; oboInOwl:hasExactSynonym "AD13"@en, "Alzheimer disease 13"@en, "Alzheimer's disease 13, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110046"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 13"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110047 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G30"^^xsd:string, "OMIM:611154"^^xsd:string ; oboInOwl:hasExactSynonym "AD14"@en, "Alzheimer disease 14"@en, "Alzheimer's disease 14, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110047"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 14"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110048 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:7190"^^xsd:string, "ICD10CM:G30"^^xsd:string, "OMIM:604154"^^xsd:string ; oboInOwl:hasExactSynonym "AD15"@en, "Alzheimer disease 15"@en, "Alzheimer's disease 15, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110048"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 15"@en ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110049 obo:IAO_0000115 "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615080"^^xsd:string ; oboInOwl:hasExactSynonym "AD17"@en, "Alzheimer disease 17"@en, "Alzheimer disease 17, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110049"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 17"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110050 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615590"^^xsd:string ; oboInOwl:hasExactSynonym "AD18"@en, "Alzheimer disease 18"@en, "Alzheimer's disease 18, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110050"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 18"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110051 obo:IAO_0000115 "An Alzheimer's disease that is characterized by associated variants of the gene PLD3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615711"^^xsd:string ; oboInOwl:hasExactSynonym "AD19"@en, "Alzheimer disease 19"@en, "Alzheimer disease 19 late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110051"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 19"^^xsd:string ; rdfs:subClassOf obo:DOID_10652 . obo:DOID_0110052 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:104500"^^xsd:string ; oboInOwl:hasExactSynonym "AI1B"@en, "AIH2"@en, "amelogenesis imperfecta type IB"@en, "autosomal dominant hypoplastic local amelogenesis imperfecta"@en, "hereditary localized enamel hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110052"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110053 obo:IAO_0000115 "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:104510"^^xsd:string ; oboInOwl:hasExactSynonym "AI4"@en, "AIHHT"@en, "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110053"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110054 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:104530"^^xsd:string ; oboInOwl:hasExactSynonym "AI1A"@en, "amelogenesis imperfecta hypoplastic type IA"@en, "amelogenesis imperfecta type IA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110054"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110055 obo:IAO_0000115 "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:130900"^^xsd:string ; oboInOwl:hasExactSynonym "ADHCAI"@en, "AI3"@en, "amelogenesis imperfecta hypomineralization type"@en, "amelogenesis imperfecta type III"@en, "autosomal dominant amelogenesis imperfecta hypocalcification type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110055"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110056 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:204650"^^xsd:string ; oboInOwl:hasExactSynonym "AI1C"@en, "amelogenesis imperfecta type IC"@en, "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion"@en, "autosomal recessive amelogenesis imperfecta local hypoplastic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110056"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110057 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9495"^^xsd:string, "ICD10CM:K00.5"^^xsd:string, "OMIM:204700"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A1"@en, "amelogenesis imperfecta pigmented hypomaturation type 1"@en, "amelogenesis imperfecta type IIA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110057"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 2A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110058 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:301200"^^xsd:string ; oboInOwl:hasExactSynonym "AIH1"@en, "X-linked amelogenesis imperfecta 1"@en, "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1"@en, "amelogenesis imperfecta hypomaturationtype with snow-capped teeth"@en, "amelogenesis imperfecta type IE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "X-linked enamel hypoplasia"@en ; oboInOwl:id "DOID:0110058"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110059 obo:IAO_0000115 "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:301201"^^xsd:string ; oboInOwl:hasExactSynonym "AIH3"@en, "amelogenesis imperfecta type IE X-linked 2"@en, "amelogenesis imperfecta 3 hypoplastic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "X-linked enamel hypoplasia"@en ; oboInOwl:id "DOID:0110059"^^xsd:string ; a owl:Class ; rdfs:label "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2187 . obo:DOID_0110060 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:612529"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A2"@en, "amelogenesis imperfecta hypomaturation type IIA2"@en, "amelogenesis imperfecta pigmented hypomaturation type 2"@en, "amelogenesis imperfecta type IIA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110060"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110061 obo:IAO_0000115 "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:613211"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A3"@en, "amelogenesis imperfecta hypomaturation type IIA3"@en, "amelogenesis imperfecta type IIA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110061"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110062 obo:IAO_0000115 "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:614832"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A4"@en, "amelogenesis imperfecta hypomaturation type IIA4"@en, "amelogenesis imperfecta type IIA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110062"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110063 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:615887"^^xsd:string ; oboInOwl:hasExactSynonym "AI2A5"@en, "amelogenesis imperfecta hypomaturation type IIA5"@en, "amelogenesis imperfecta type IIA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110063"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta hypomaturation type 2A5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110064 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:616221"^^xsd:string ; oboInOwl:hasExactSynonym "AI1H"@en, "amelogenesis imperfecta type IH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110064"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110065 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:616270"^^xsd:string ; oboInOwl:hasExactSynonym "AI1F"@en, "amelogenesis imperfecta hypoplastic type IF"@en, "amelogenesis imperfecta type IF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110065"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110066 obo:IAO_0000115 "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K00.5"^^xsd:string, "OMIM:204690"^^xsd:string, "ORDO:1031"^^xsd:string ; oboInOwl:hasExactSynonym "AI1G"@en, "AIGFS"@en, "ERS"@en, "amelogenesis imperfecta and gingival fibromatosis syndrome"@en, "amelogenesis imperfecta hypoplastic with nephrocalcinosis"@en, "amelogenesis imperfecta type IG"@en, "enamel-renal syndrome"@en, "enamel-renal-gingival syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110066"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2187, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110067 obo:IAO_0000115 "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia."^^xsd:string ; oboInOwl:hasDbXref "OMIM:205200"^^xsd:string ; oboInOwl:hasExactSynonym "ALS-dementia complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110067"^^xsd:string ; a owl:Class ; rdfs:label "juvenile amyotrophic lateral sclerosis with dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_332, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0110068 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616437"^^xsd:string ; oboInOwl:hasExactSynonym "FTDALS3"^^xsd:string, "frontotemporal dementia and/or amyotrophic lateral sclerosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110068"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-3"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0110069 obo:IAO_0000115 "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616439"^^xsd:string ; oboInOwl:hasExactSynonym "FTDALS4"^^xsd:string, "frontotemporal dementia and/or amyotrophic lateral sclerosis 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110069"^^xsd:string ; a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis-4"^^xsd:string ; rdfs:subClassOf obo:DOID_332 . obo:DOID_0110070 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "ICD10CM:Q24.8"^^xsd:string, "MESH:C536932"^^xsd:string, "OMIM:107970"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC1"@en, "Uhl anomaly"@en, "arrhythmogenic right ventricular cardiomyopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110070"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110071 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:600996"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC2"@en, "ARVD2"@en, "arrhythmogenic right ventricular cardiomyopathy 2"@en, "familial arrhythmogenic right ventricular dysplasia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110071"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110072 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:602086"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC3"@en, "ARVD3"@en, "arrhythmogenic right ventricular cardiomyopathy 3"@en, "familial arrhythmogenic right ventricular dysplasia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110072"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110073 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:602087"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC4"@en, "ARVD4"@en, "arrhythmogenic right ventricular cardiomyopathy 4"@en, "familial arrhythmogenic right ventricular dysplasia 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110073"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110074 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:604400"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC5"@en, "ARVD5"@en, "arrhythmogenic right ventricular cardiomyopathy 5"@en, "familial arrhythmogenic right ventricular dysplasia 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110074"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 5"@en ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110075 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:604401"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC6"@en, "ARVD6"@en, "arrhythmogenic right ventricular cardiomyopathy 6"@en, "familial arrhythmogenic right ventricular dysplasia 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110075"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431 . obo:DOID_0110076 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:607450"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC8"@en, "ARVD8"@en, "arrhythmogenic right ventricular cardiomyopathy 8"@en, "familial arrhythmogenic right ventricular dysplasia 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110076"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110077 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:609040"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC9"@en, "ARVD9"@en, "arrhythmogenic right ventricular cardiomyopathy 9"@en, "familial arrhythmogenic right ventricular dysplasia 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110077"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110078 obo:IAO_0000115 "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:204000"^^xsd:string ; oboInOwl:hasExactSynonym "LCA1"@en, "amaurosis congenita of Leber I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110078"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110079 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613835"^^xsd:string ; oboInOwl:hasExactSynonym "LCA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110079"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110080 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610612"^^xsd:string ; oboInOwl:hasExactSynonym "LCA12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110080"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110081 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:610193"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC10"@en, "ARVD10"@en, "arrhythmogenic right ventricular cardiomyopathy 10"@en, "familial arrhythmogenic right ventricular dysplasia 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110081"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110082 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:610476"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC11"@en, "ARVD11"@en, "arrhythmogenic right ventricular cardiomyopathy 11"@en, "familial arrhythmogenic right ventricular dysplasia 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110082"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:GENO_0000147 obo:GENO_0000148 ) ] ] . obo:DOID_0110083 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:611528"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC12"@en, "ARVD12"@en, "arrhythmogenic right ventricular cardiomyopathy 12"@en, "familial arrhythmogenic right ventricular dysplasia 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110083"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110084 obo:IAO_0000115 "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.8"^^xsd:string, "OMIM:615616"^^xsd:string ; oboInOwl:hasExactSynonym "ARVC13"@en, "ARVD13"@en, "arrhythmogenic right ventricular cardiomyopathy 13"@en, "familial arrhythmogenic right ventricular dysplasia 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110084"^^xsd:string ; a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050431, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110085 obo:IAO_0000115 "An asphyxiating thoracic dystrophy associated with variation in the region 15q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:208500"^^xsd:string ; oboInOwl:hasExactSynonym "ATD1"@en, "SRTD1"@en, "short-rib thoracic dysplasia 1 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110085"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110086 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:611263"^^xsd:string ; oboInOwl:hasExactSynonym "ATD2"@en, "SRTD2"@en, "short-rib thoracic dysplasia 2 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110086"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 2"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110087 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:613091"^^xsd:string ; oboInOwl:hasExactSynonym "ATD3"@en, "SRPS1"@en, "SRPS2B"@en, "SRPS3"@en, "SRTD3"@en, "Saldino-Noonan syndrome"@en, "Verma-Naumoff syndrome"@en, "polydactyly with neonatal chondrodystrophy, type I"@en, "polydactyly with neonatal chondrodystrophy, type III"@en, "short rib-polydactyly syndrome, type I"@en, "short rib-polydactyly syndrome, type IIB"@en, "short-rib thoracic dysplasia 3 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110087"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 3"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110088 obo:IAO_0000115 "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:613819"^^xsd:string ; oboInOwl:hasExactSynonym "ATD4"@en, "SRTD4"@en, "short-rib thoracic dysplasia 4 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110088"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 4"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110089 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:614376"^^xsd:string ; oboInOwl:hasExactSynonym "ATD5"@en, "SRTD5"@en, "short-rib thoracic dysplasia 5 with or without polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110089"^^xsd:string ; a owl:Class ; rdfs:label "asphyxiating thoracic dystrophy 5"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110090 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:614091"^^xsd:string ; oboInOwl:hasExactSynonym "SRPS5"@en, "SRTD7"@en, "short rib-polydactyly syndrome type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110090"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 7 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110091 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "ICD10CM:Q87.5"^^xsd:string, "OMIM:615630"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110091"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 10 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110092 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:263520"^^xsd:string ; oboInOwl:hasExactSynonym "Majewski syndrome"@en, "SRPS2A"@en, "SRTD6"@en, "polydactyly with neonatal chondrodystrophy, type II"@en, "short rib-polydactyly syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110092"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 6 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110093 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:616300"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110093"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 13 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110094 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:615503"^^xsd:string ; oboInOwl:hasExactSynonym "SRPS6"@en, "SRTD8"@en, "short rib-polydactyly syndrome type VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110094"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 8 with or without polydactyly"@en ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110095 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.2"^^xsd:string, "OMIM:615633"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110095"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 11 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110096 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q04.3"^^xsd:string, "OMIM:616546"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110096"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 14 with polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110097 obo:IAO_0000115 "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.5"^^xsd:string, "OMIM:266920"^^xsd:string ; oboInOwl:hasExactSynonym "SRTD9"@en, "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110097"^^xsd:string ; a owl:Class ; rdfs:label "short-rib thoracic dysplasia 9 with or without polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050592, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110098 obo:IAO_0000115 "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605803"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110098"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110099 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 20p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605804"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD3"@en, "atopic dermatitis with asthma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110099"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110100 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605805"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110100"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110101 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 13q12-q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605844"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110101"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110102 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 5q31-q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605845"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110102"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110103 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 11q13.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613064"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110103"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110104 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 4q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613518"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110104"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110105 obo:IAO_0000115 "An atopic dermatitis associated with variation in the region 3p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613519"^^xsd:string ; oboInOwl:hasExactSynonym "ATOD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110105"^^xsd:string ; a owl:Class ; rdfs:label "atopic dermatitis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_3310 . obo:DOID_0110106 obo:IAO_0000115 "An atrial heart septal defect type 1 associated with variation in the region 5p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:108800"^^xsd:string ; oboInOwl:hasExactSynonym "ASD1"@en, "atrial septal defect 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110106"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 1"@en ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_0110107 obo:IAO_0000115 "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:607941"^^xsd:string ; oboInOwl:hasExactSynonym "ASD2"@en, "atrial septal defect 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110107"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110108 obo:IAO_0000115 "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:614089"^^xsd:string ; oboInOwl:hasExactSynonym "ASD3"@en, "atrial septal defect 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110108"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_0110109 obo:IAO_0000115 "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:611363"^^xsd:string ; oboInOwl:hasExactSynonym "ASD4"@en, "atrial septal defect 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110109"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1882 . obo:DOID_0110110 obo:IAO_0000115 "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:612794"^^xsd:string ; oboInOwl:hasExactSynonym "ASD5"@en, "atrial septal defect 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110110"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110111 obo:IAO_0000115 "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:613087"^^xsd:string ; oboInOwl:hasExactSynonym "ASD6"@en, "atrial septal defect 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110111"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110112 obo:IAO_0000115 "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:108900"^^xsd:string, "ORDO:1479"^^xsd:string ; oboInOwl:hasExactSynonym "ASD with or without atrioventricular conduction defects"@en, "atrial septal defect 7, with or without AV conduction defects"@en, "atrial septal defect-atrioventricular conduction defects syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110112"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110113 obo:IAO_0000115 "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:614433"^^xsd:string ; oboInOwl:hasExactSynonym "ASD8"@en, "atrial septal defect 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110113"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110114 obo:IAO_0000115 "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q21.1"^^xsd:string, "OMIM:614475"^^xsd:string ; oboInOwl:hasExactSynonym "ASD9"@en, "atrial septal defect 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110114"^^xsd:string ; a owl:Class ; rdfs:label "atrial heart septal defect 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1882, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110115 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:603909"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS2A"@en, "autoimmune lymphoproliferative syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110115"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110116 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:607271"^^xsd:string, "ORDO:275517"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS with recurrent viral infections"@en, "ALPS2B"@en, "CEDS"@en, "Caspase 8 deficiency"@en, "Caspase 8 deficiency syndrome"@en, "Caspase eight deficiency state"@en, "autoimmune lymphoproliferative syndrome type IIB"@en, "autoimmune lymphoproliferative syndrome with recurrent viral infections"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110116"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110117 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D72.8"^^xsd:string, "OMIM:614470"^^xsd:string, "ORDO:268114"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS type 4"@en, "ALPS type IV"@en, "ALPS4"@en, "RALD"@en, "RAS-associated autoimmune leukoproliferative disease"@en, "RAS-associated autoimmune leukoproliferative disorder"@en, "autoimmune lymphoproliferative syndrome type IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110117"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110118 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614186"^^xsd:string ; oboInOwl:hasExactSynonym "LCA16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110118"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110119 obo:IAO_0000115 "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D47.9"^^xsd:string, "OMIM:615559"^^xsd:string ; oboInOwl:hasExactSynonym "ALPS3"@en, "CVID9"@en, "autoimmune lymphoproliferative syndrome type III"@en, "common variable immunodeficiency 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110119"^^xsd:string ; a owl:Class ; rdfs:label "autoimmune lymphoproliferative syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_6688, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110120 obo:IAO_0000115 "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.8"^^xsd:string, "OMIM:180500"^^xsd:string ; oboInOwl:hasExactSynonym "RIEG1"@en, "Rieger syndrome type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110120"^^xsd:string ; a owl:Class ; rdfs:label "Axenfeld-Rieger syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14686, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110121 obo:IAO_0000115 "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.8"^^xsd:string, "OMIM:601499"^^xsd:string ; oboInOwl:hasExactSynonym "RIEG2"@en, "Rieger syndrome type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110121"^^xsd:string ; a owl:Class ; rdfs:label "Axenfeld-Rieger syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_14686, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0110122 obo:IAO_0000115 "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q13.8"^^xsd:string, "OMIM:602482"^^xsd:string ; oboInOwl:hasExactSynonym "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss"@en, "RIEG3"@en, "Rieger syndrome type 3"@en, "anterior chamber cleavage syndrome"@en, "anterior segment mesenchymal dysgenesis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110122"^^xsd:string ; a owl:Class ; rdfs:label "Axenfeld-Rieger syndrome type 3"@en ; rdfs:subClassOf obo:DOID_14686, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110123 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:820"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:209900"^^xsd:string ; oboInOwl:hasExactSynonym "BBS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110123"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110124 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:821"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615981"^^xsd:string ; oboInOwl:hasExactSynonym "BBS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110124"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110125 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:822"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:600151"^^xsd:string ; oboInOwl:hasExactSynonym "BBS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110125"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110126 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:823"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615982"^^xsd:string ; oboInOwl:hasExactSynonym "BBS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110126"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110127 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10204"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615983"^^xsd:string ; oboInOwl:hasExactSynonym "BBS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110127"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110128 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:10205"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:605231"^^xsd:string ; oboInOwl:hasExactSynonym "BBS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110128"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110129 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:10206"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615984"^^xsd:string ; oboInOwl:hasExactSynonym "BBS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110129"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110130 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10207"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615985"^^xsd:string ; oboInOwl:hasExactSynonym "BBS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110130"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110131 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14."^^xsd:string ; oboInOwl:hasDbXref "GARD:10208"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615986"^^xsd:string ; oboInOwl:hasExactSynonym "BBS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110131"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110132 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10209"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615987"^^xsd:string ; oboInOwl:hasExactSynonym "BBS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110132"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 10"@en ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110133 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:10210"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615988"^^xsd:string ; oboInOwl:hasExactSynonym "BBS11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110133"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110134 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "GARD:10211"^^xsd:string, "ICD10CM:Q87.89"^^xsd:string, "OMIM:615989"^^xsd:string ; oboInOwl:hasExactSynonym "BBS12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110134"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110135 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615990"^^xsd:string ; oboInOwl:hasExactSynonym "BBS13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110135"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110136 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615991"^^xsd:string ; oboInOwl:hasExactSynonym "BBS14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110136"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110137 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615992"^^xsd:string ; oboInOwl:hasExactSynonym "BBS15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110137"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110138 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615993"^^xsd:string ; oboInOwl:hasExactSynonym "BBS16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110138"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 16"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110139 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615994"^^xsd:string ; oboInOwl:hasExactSynonym "BBS17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110139"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 17"@en ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110140 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615995"^^xsd:string ; oboInOwl:hasExactSynonym "BBS18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110140"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 18"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110141 obo:IAO_0000115 "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.89"^^xsd:string, "OMIM:615996"^^xsd:string ; oboInOwl:hasExactSynonym "BBS19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110141"^^xsd:string ; a owl:Class ; rdfs:label "Bardet-Biedl syndrome 19"^^xsd:string ; rdfs:subClassOf obo:DOID_1935 . obo:DOID_0110142 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:601678"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS1"@en, "Bartter syndrome type 1"@en, "Bartter syndrome type 1 antenatal"@en, "hyperprostaglandin E syndrome 1"@en, "hypokalemic alkalosis with hypercalciuria 1 antenatal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110142"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110143 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:241200"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS2"@en, "Bartter syndrome type 2"@en, "Bartter syndrome type 2 antenatal"@en, "hyperprostaglandin E syndrome 2"@en, "hypokalemic alkalosis with hypercalciuria 2 antenatal"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110143"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110144 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:9659"^^xsd:string, "ICD10CM:E26.8"^^xsd:string, "OMIM:607364"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS3"@en, "Bartter syndrome type 3"@en, "classic Bartter syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110144"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110145 obo:IAO_0000115 "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:602522"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS4A"@en, "BSND"@en, "Bartter syndrome type 4a"@en, "neonatal Bartter syndrome with sensorineural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110145"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 4a"^^xsd:string ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110146 obo:IAO_0000115 "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:613090"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS4B"@en, "Bartter syndrome, type 4b, digenic"@en, "neonatal Bartter syndrome type 4B with sensorineural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110146"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 4b"@en ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110147 obo:IAO_0000115 "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E26.8"^^xsd:string, "OMIM:300971"^^xsd:string ; oboInOwl:hasExactSynonym "BARTS5"@en, "Bartter syndrome, type 5, antenatal, transient"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110147"^^xsd:string ; a owl:Class ; rdfs:label "Bartter disease type 5"@en ; rdfs:subClassOf obo:DOID_445 . obo:DOID_0110148 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)."^^xsd:string ; oboInOwl:hasDbXref "GARD:1245"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:118220"^^xsd:string, "ORDO:101081"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1A"@en, "Charcot-Marie-Tooth neuropathy type 1A"@en, "HMSN1A"@en, "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A"@en, "hereditary motor and sensory neuropathy 1A"@en, "microduplication 17p12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110148"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110149 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607734"^^xsd:string, "ORDO:101085"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1F"@en, "Charcot-Marie-Tooth neuropathy type 1F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110149"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110150 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607678"^^xsd:string, "ORDO:101084"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1D"@en, "Charcot-Marie-Tooth neuropathy type 1D"@en, "HMSN ID"@en, "HMSN1D"@en, "hereditary motor and sensory neuropathy 1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110150"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110151 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601098"^^xsd:string, "ORDO:101083"^^xsd:string ; oboInOwl:hasExactSynonym "CMT slow nerve conduction type C"@en, "CMT1C"@en, "Charcot-Marie-Tooth neuropathy type 1C"@en, "HMSN IC"@en, "HMSN1C"@en, "neuropathy hereditary motor and sensory type 1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110151"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110152 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:118200"^^xsd:string, "ORDO:101082"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1B"@en, "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy"@en, "Charcot-Marie-Tooth neuropathy type 1B"@en, "HMSN IB"@en, "HMSN1B"@en, "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B"@en, "hereditary motor and sensory neuropathy IB"@en, "peroneal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110152"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110153 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)."^^xsd:string ; oboInOwl:hasDbXref "GARD:9190"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:118300"^^xsd:string, "ORDO:90658"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1E"@en, "Charcot-Marie-Tooth disease and deafness"@en, "Charcot-Marie-Tooth disease demyelinating type 1E"@en, "Charcot-Marie-Tooth disease-deafness"@en, "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110153"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110154 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:118210"^^xsd:string, "ORDO:99946"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2A1"@en, "Charcot-Marie-Tooth disease neuronal type 2A1"@en, "Charcot-Marie-Tooth neuropathy type 2A1"@en, "HMSN IIA1"@en, "HMSN2A1"@en, "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1"@en, "hereditary motor and sensory neuropathy IIA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110154"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110155 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:609260"^^xsd:string, "ORDO:99947"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2A2A"@en, "Charcot-Marie-Tooth neuronal type 2A2"@en, "Charcot-Marie-Tooth neuropathy type 2A2"@en, "HMSN IIA2"@en, "HMSN2A2"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2"@en, "hereditary motor and sensory neuropathy IIA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110155"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2A2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110156 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605588"^^xsd:string, "ORDO:98856"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2B1"@en, "Charcot-Marie-Tooth disease neuronal type 2B1"@en, "Charcot-Marie-Tooth neuropathy type 2B1"@en, "autosomal recessive Charcot-Marie-Tooth disease type 2B1"@en, "autosomal recessive axonal CMT4C1"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110156"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110157 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607736"^^xsd:string, "ORDO:99943"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2J"@en, "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities"@en, "Charcot-Marie-Tooth neuropathy type 2J"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110157"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110158 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607677"^^xsd:string, "ORDO:99942"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2I"@en, "Charcot-Marie-Tooth neuropathy type 2I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110158"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110159 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9192"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:600882"^^xsd:string, "ORDO:99936"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2B"@en, "Charcot-Marie-Tooth neuropathy type 2B"@en, "HMSN IIB"@en, "HMSN2B"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2B"@en, "hereditary motor and sensory nueropathy IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110159"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110160 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:617017"^^xsd:string, "ORDO:443950"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2T"@en, "CMT2T"@en, "Charcot-Marie-Tooth neuropathy type 2T"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110160"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2T"@en ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110161 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615490"^^xsd:string, "ORDO:397968"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2R"@en, "Charcot-Marie-Tooth neuropathy type 2R"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110161"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2R"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110162 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616625"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2W"@en, "Charcot-Marie-Tooth neuropathy type 2W"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2W"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110162"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease, axonal type 2W"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110163 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606595"^^xsd:string, "ORDO:99940"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2F"@en, "Charcot-Marie-Tooth neuronal type 2F"@en, "Charcot-Marie-Tooth neuropathy type 2F"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110163"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110164 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601472"^^xsd:string, "ORDO:99938"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2D"@en, "Charcot-Marie-Tooth disease neuronal type 2D"@en, "Charcot-Marie-Tooth neuropathy type 2D"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110164"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110165 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607684"^^xsd:string, "ORDO:99939"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2E"@en, "Charcot-Marie-Tooth neuropathy type 2E"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110165"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110166 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607731"^^xsd:string, "ORDO:101102"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2C"@en, "Autosomal recessive axonal CMT4C2"@en, "Axonal Charcot-Marie-Tooth disease with pyramidal involvement"@en, "CMT2H"@en, "Charcot-Marie-Tooth disease type 2H"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features"@en, "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110166"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110167 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607831"^^xsd:string, "ORDO:101097"^^xsd:string ; oboInOwl:hasExactSynonym "ARCMT2K"@en, "Charcot-Marie-Tooth neuropathy axonal type 2K"@en, "autosomal recessive Charcot-Marie-Tooth disease with hoarseness"@en, "autosomal recessive axonal CMT4C4"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110167"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2K"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110168 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616687"^^xsd:string, "ORDO:435387"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2 due to VCP mutation"@en, "CMT2Y"@en, "Charcot-Marie-Tooth neuropathy type 2Y"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation"@en, "autosomal dominant axonal Charcot-Marie-Tooth type 2Y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110168"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2Y"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110169 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:12435"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:614436"^^xsd:string, "ORDO:300319"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2P"@en, "Charcot-Marie-Tooth disease type 2P"@en, "Charcot-Marie-Tooth neuropathy type 2P"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110169"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2P"@en ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110170 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615025"^^xsd:string, "ORDO:329258"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2Q"@en, "Charcot-Marie-Tooth neuropathy type 2Q"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2Q"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110170"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110171 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616155"^^xsd:string, "ORDO:443073"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2S"@en, "Charcot-Marie-Tooth disease type 2S"@en, "Charcot-Marie-Tooth neuropathy type 2S"@en, "autosomal recessive axonal Charcot-Marie-Tooth type 2S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110171"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2S"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110172 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110172"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Charcot-Marie-Tooth disease axonal type 2G"^^xsd:string ; owl:deprecated true . obo:DOID_0110173 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616280"^^xsd:string, "ORDO:397735"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2U"@en, "Charcot-Marie-Tooth neuropathy type 2U"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2U"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110173"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2U"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110174 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:608673"^^xsd:string, "ORDO:99945"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2L"@en, "Charcot-Marie-Tooth neuropathy axonal type 2L"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2L"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110174"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2L"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110175 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:614228"^^xsd:string, "ORDO:284232"^^xsd:string ; oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy axonal type 2O"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2O"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110175"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2O"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110176 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616668"^^xsd:string, "ORDO:466775"^^xsd:string ; oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2X"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110176"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2X"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110177 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:613287"^^xsd:string, "ORDO:228174"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2N"@en, "Charcot-Marie-Tooth neuropathy axonal type 2N"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2N"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110177"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2N"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110178 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616491"^^xsd:string, "ORDO:447964"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2V"@en, "Charcot-Marie-Tooth neuropathy type 2V"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2V"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110178"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110179 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605589"^^xsd:string, "ORDO:101101"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2B2"@en, "ARCMT2B"@en, "Autosomal recessive axonal CMT4C3"@en, "CMT2B2"@en, "Charcot-Marie-Tooth disease neuronal type 2B2"@en, "Charcot-Marie-Tooth neuropathy type 2B2"@en, "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110179"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110180 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616924"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2CC"@en, "Charcot-Marie-Tooth neuropathy type 2CC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110180"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2CC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110181 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616688"^^xsd:string, "ORDO:466768"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2Z"@en, "Charcot-Marie-Tooth neuropathy type 2Z"@en, "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110181"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2Z"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110182 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606071"^^xsd:string, "ORDO:99937"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2C"@en, "Charcot-Marie-Tooth neuropathy type 2C"@en, "HMSN2C"@en, "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C"@en, "autosomal dominant Charcot-Marie-Tooth disease type 2C"@en, "hereditary motor and sensory neuropathy type IIc"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110182"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease axonal type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110183 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601596"^^xsd:string, "ORDO:99949"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4C"@en, "Charcot-Marie-Tooth neuropathy type 4C"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110183"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110184 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:611228"^^xsd:string, "ORDO:139515"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4J"@en, "autosomal recessive Charcot-Marie-Tooth disease type 4J"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110184"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4J"@en ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110185 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:214400"^^xsd:string, "ORDO:99948"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4A"@en, "Charcot-Marie-Tooth neuropathy type 4A"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110185"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110186 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601455"^^xsd:string, "ORDO:99950"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4D"@en, "Charcot-Marie-Tooth neuropathy type 4D"@en, "HMSN Lom type"@en, "HMSN-Lom"@en, "HMSN4D"@en, "HMSNL"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D"@en, "hereditary motor and sensory neuropathy LOM type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110186"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110187 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616684"^^xsd:string, "ORDO:391351"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4K"@en, "SURF1-related CMT4"@en, "SURF1-related Charcot-Marie-Tooth disease type 4"@en, "SURF1-related severe demyelinating Charcot-Marie-Tooth disease"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110187"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4K"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110188 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613341"^^xsd:string ; oboInOwl:hasExactSynonym "LCA14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110188"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110189 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613843"^^xsd:string ; oboInOwl:hasExactSynonym "LCA15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110189"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110190 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:9200"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "OMIM:604563"^^xsd:string, "ORDO:99956"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4B2"@en, "Charcot-Marie-Tooth neuropathy type 4B2"@en, "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110190"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110191 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:601382"^^xsd:string, "ORDO:99955"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4B1"@en, "Charcot-Marie-Tooth neuropathy type 4B1"@en, "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110191"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110192 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:609311"^^xsd:string, "ORDO:99954"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4H"@en, "Charcot-Marie-Tooth neuropathy type 4H"@en, "autosomal recessive Charcot-Marie-Tooth disease type 4H"@en, "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110192"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110193 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:614895"^^xsd:string, "ORDO:99952"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110193"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110194 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615284"^^xsd:string, "ORDO:363981"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4B3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110194"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4B3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110195 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605253"^^xsd:string, "ORDO:99951"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4E"@en, "Charcot-Marie-Tooth neuropathy type 4E"@en, "Neuropathy, congenital hypomyelinating, 1"@en, "autosomal recessive congenital hypomyelinating or amyelinating neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110195"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110196 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:605285"^^xsd:string, "ORDO:99953"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4G"@en, "Charcot-Marie-Tooth neuropathy type 4G"@en, "HMSNR"@en, "autosomal recessive Charcot-Marie-Tooth disease type 4G"@en, "hereditary motor and sensory neuropathy Russe type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110196"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 4G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050541, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110197 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606482"^^xsd:string, "ORDO:100044"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDI1"@en, "CMTDIB"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate B"@en, "DI-CMTB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110197"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110198 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615376"^^xsd:string, "ORDO:369867"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRIC"@en, "RI-CMT type C"@en, "RI-CMTC"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110198"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110199 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:608323"^^xsd:string, "ORDO:100045"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIC"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate C"@en, "DI-CMTC"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110199"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110200 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:607791"^^xsd:string, "ORDO:100046"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDID"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate D"@en, "DI-CMTD"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110200"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110201 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608340"^^xsd:string, "ORDO:217055"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRIA"@en, "Charcot-Marie-Tooth neuropathy recessive intermediate A"@en, "RI-CMTA"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110201"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110202 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:606483"^^xsd:string, "ORDO:100043"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIA"@en, "Charcot-Marie-Tooth neuropathy dominant intermediate A"@en, "DI-CMTA"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110202"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110203 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:616039"^^xsd:string, "ORDO:435998"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRID"@en, "RI-CMT type D"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110203"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110204 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:613641"^^xsd:string, "ORDO:254334"^^xsd:string ; oboInOwl:hasExactSynonym "CMTRIB"@en, "Charcot-Marie-Tooth neuropathy recessive intermediate B"@en, "RI-CMTB"@en, "autosomal recessive intermediate Charcot-Marie-Tooth disease type B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110204"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease recessive intermediate B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110205 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:614455"^^xsd:string, "ORDO:93114"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIE"@en, "Charcot-Marie-Tooth disease-nephropathy syndrome"@en, "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110205"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110206 obo:IAO_0000115 "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:615185"^^xsd:string, "ORDO:352670"^^xsd:string ; oboInOwl:hasExactSynonym "CMTDIF"@en, "autosomal dominant intermediate Charcot-Marie-Tooth disease type F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110206"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease dominant intermediate F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050543, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110207 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:300905"^^xsd:string, "ORDO:352675"^^xsd:string ; oboInOwl:hasExactSynonym "CMT6X"@en, "CMTX6"@en, "Charcot-Marie-Tooth neuropathy X-linked dominant 6"@en, "X-linked Charcot-Marie-Tooth disease type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110207"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110208 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:302801"^^xsd:string, "ORDO:101076"^^xsd:string ; oboInOwl:hasExactSynonym "CMTX2"@en, "Charcot-Marie-Tooth neuropathy X-linked recessive 2"@en, "X-linked Charcot-Marie-Tooth disease type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110208"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110209 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:302800"^^xsd:string, "ORDO:101075"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1X"@en, "CMTX1"@en, "Charcot-Marie-Tooth neuropathy X-linked dominant 1"@en, "X-linked Charcot-Marie-Tooth disease type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110209"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110210 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:311070"^^xsd:string, "ORDO:99014"^^xsd:string ; oboInOwl:hasExactSynonym "CMT5X"@en, "CMTX5"@en, "Charcot-Marie-Tooth neuropathy X-linked recessive 5"@en, "Rosenberg-Chutorian syndrome"@en, "X-linked Charcot-Marie-Tooth disease type 5"@en, "optic atrophy, polyneuropathy, and deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110210"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110211 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:302802"^^xsd:string, "ORDO:101077"^^xsd:string ; oboInOwl:hasExactSynonym "CMT3X"@en, "CMTX3"@en, "Charcot-Marie-Tooth neuropathy X-linked recessive 3"@en, "X-linked Charcot-Marie-Tooth disease type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110211"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110212 obo:IAO_0000115 "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G60.0"^^xsd:string, "OMIM:310490"^^xsd:string, "ORDO:101078"^^xsd:string ; oboInOwl:hasExactSynonym "CMT4X"@en, "CMTX4"@en, "Charcot-Marie-Tooth disease with deafness and mental retardation"@en, "Cowchock syndrome"@en, "NADMR"@en, "NAMSD"@en, "X-linked Charcot-Marie-Tooth disease type 4"@en, "axonal motor sensory neuropathy with deafness and mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110212"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050542, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110213 obo:IAO_0000115 "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q35.1"^^xsd:string, "ICD10CM:Q35.3"^^xsd:string, "ICD10CM:Q35.5"^^xsd:string, "ICD10CM:Q35.7"^^xsd:string, "ICD10CM:Q35.9"^^xsd:string, "OMIM:119540"^^xsd:string, "ORDO:2014"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110213"^^xsd:string ; a owl:Class ; rdfs:label "isolated cleft palate"^^xsd:string ; rdfs:subClassOf obo:DOID_674 . obo:DOID_0110214 obo:IAO_0000115 "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q35.3"^^xsd:string, "OMIM:119570"^^xsd:string, "ORDO:99772"^^xsd:string ; oboInOwl:hasExactSynonym "cleft velum"@en, "cleft velum palatinum"@en, "soft cleft palate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110214"^^xsd:string ; a owl:Class ; rdfs:label "cleft soft palate"^^xsd:string ; rdfs:subClassOf obo:DOID_674 . obo:DOID_0110215 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:604537"^^xsd:string ; oboInOwl:hasExactSynonym "LCA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110215"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110216 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613837"^^xsd:string ; oboInOwl:hasExactSynonym "LCA11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110216"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110217 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615360"^^xsd:string ; oboInOwl:hasExactSynonym "LCA17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110217"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110218 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:601144"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110218"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110219 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:611777"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110219"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 2"@en ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110220 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10361"^^xsd:string, "ICD10CM:I49.8"^^xsd:string, "OMIM:611875"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110220"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110221 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:10362"^^xsd:string, "ICD10CM:I49.8"^^xsd:string, "OMIM:611876"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110221"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110222 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:612838"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110222"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110223 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:613119"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110223"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110224 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:613120"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110224"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110225 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:613123"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110225"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451 . obo:DOID_0110226 obo:IAO_0000115 "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I49.8"^^xsd:string, "OMIM:616399"^^xsd:string ; oboInOwl:hasExactSynonym "BRGDA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110226"^^xsd:string ; a owl:Class ; rdfs:label "Brugada syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050451, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110227 obo:IAO_0000115 "A cataract that has_material_basis_in mutation in the region 14q22-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115650"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT32"@en ; oboInOwl:hasNarrowSynonym "CTAA1"@en, "CTPP5"@en, "anterior polar cataract 1"@en, "posterior polar cataract 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110227"^^xsd:string ; a owl:Class ; rdfs:label "cataract 32 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110228 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 1pter-p36.13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115665"^^xsd:string ; oboInOwl:hasExactSynonym "CCV"@en, "CTRCT8"@en, "cataract, congenital, Volkmann type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110228"^^xsd:string ; a owl:Class ; rdfs:label "cataract 8 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110229 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116600"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT6"@en ; oboInOwl:hasNarrowSynonym "ARCC2"@en, "CTPP1"@en, "age related cortical cataract 2"@en, "posterior polar cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110229"^^xsd:string ; a owl:Class ; rdfs:label "cataract 6 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110230 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:612968"^^xsd:string ; oboInOwl:hasExactSynonym "CATC3"@en, "CTRCT34"@en, "autosomal recessive congenital cataract 3"@en, "cataract 34 multiple types with or without microcornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110230"^^xsd:string ; a owl:Class ; rdfs:label "cataract 34 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110231 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116200"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT1"@en, "Duffy linked cataract"@en, "cataract 1, multiple types, with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CAE1"@en, "CZP1"@en, "zonular pulverulent cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110231"^^xsd:string ; a owl:Class ; rdfs:label "cataract 1 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110232 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 2pter-p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115800"^^xsd:string, "ORDO:98990"^^xsd:string ; oboInOwl:hasExactSynonym "cataract 29 coralliform"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110232"^^xsd:string ; a owl:Class ; rdfs:label "cataract 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110233 obo:IAO_0000115 "A cataract that has_material_basis_in mutation in the region 2p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:607304"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT27"@en, "cataract 27 nuclear progressive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110233"^^xsd:string ; a owl:Class ; rdfs:label "cataract 27"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110234 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115700"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT4"@en, "cataract 4 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CCA3"@en, "congenital cataract cerulean type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110234"^^xsd:string ; a owl:Class ; rdfs:label "cataract 4 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110235 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:604307"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT2"@en, "cataract 2 multiple types with or without microcornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110235"^^xsd:string ; a owl:Class ; rdfs:label "cataract 2 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110236 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:615188"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT39"@en, "autosomal dominant cataract 39 multiple types"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110236"^^xsd:string ; a owl:Class ; rdfs:label "cataract 39 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110237 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35."@en ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115900"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110237"^^xsd:string ; a owl:Class ; rdfs:label "cataract 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110238 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610019"^^xsd:string ; oboInOwl:hasExactSynonym "CATC2"@en, "CTRCT18"@en, "autosomal recessive congenital cataract 2"@en, "cataract 18 autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110238"^^xsd:string ; a owl:Class ; rdfs:label "cataract 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110239 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:611597"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110239"^^xsd:string ; a owl:Class ; rdfs:label "cataract 12 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110240 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116100"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110240"^^xsd:string ; a owl:Class ; rdfs:label "cataract 20 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110241 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116400"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT41"@en, "congenital nuclear type cataract 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110241"^^xsd:string ; a owl:Class ; rdfs:label "cataract 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110242 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116700"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110242"^^xsd:string ; a owl:Class ; rdfs:label "cataract 13 with adult i phenotype"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110243 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:212500"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT46"@en, "juvenilae cataract Hutterite type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110243"^^xsd:string ; a owl:Class ; rdfs:label "cataract 46 juvenile-onset"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0110244 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 6p12-q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609026"^^xsd:string ; oboInOwl:hasExactSynonym "ARCC1"@en, "CTRCT28"@en, "age-related cortical cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110244"^^xsd:string ; a owl:Class ; rdfs:label "cataract 28"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110245 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:614691"^^xsd:string ; oboInOwl:hasExactSynonym "CATC5"@en, "CTRCT38"@en, "autosomal recessive congenital cataract 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110245"^^xsd:string ; a owl:Class ; rdfs:label "cataract 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110246 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 9q13-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:605749"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110246"^^xsd:string ; a owl:Class ; rdfs:label "cataract 26 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110247 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613887"^^xsd:string ; oboInOwl:hasExactSynonym "CATC4"@en, "CTRCT36"@en, "autosomal recessive congenital cataract 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110247"^^xsd:string ; a owl:Class ; rdfs:label "cataract 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110248 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116300"^^xsd:string, "ORDO:98984"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT30"@en, "Dusty cataract"@en, "cataract 30 pulverulent"@en, "cataract Coppock-like"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110248"^^xsd:string ; a owl:Class ; rdfs:label "cataract 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110249 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610623"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT11"@en ; oboInOwl:hasNarrowSynonym "CPP4"@en, "CTPP4"@en, "posterior polar cataract 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110249"^^xsd:string ; a owl:Class ; rdfs:label "cataract 11 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110250 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:613763"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT16"@en ; oboInOwl:hasNarrowSynonym "CTPP2"@en, "posterior polar cataract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110250"^^xsd:string ; a owl:Class ; rdfs:label "cataract 16 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110251 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:615274"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110251"^^xsd:string ; a owl:Class ; rdfs:label "cataract 15 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110252 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:614422"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT37"@en ; oboInOwl:hasNarrowSynonym "CCA5"@en, "congenital cataract cerulean type 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110252"^^xsd:string ; a owl:Class ; rdfs:label "cataract 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110253 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:601885"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT14"@en ; oboInOwl:hasNarrowSynonym "CAE3"@en, "CZP3"@en, "zonular pulverulent cataract 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110253"^^xsd:string ; a owl:Class ; rdfs:label "cataract 14 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110254 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 15q21-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:605728"^^xsd:string, "ORDO:98985"^^xsd:string ; oboInOwl:hasExactSynonym "CCSSO"@en, "CTRCT25"@en, "central pouch-like cataract with sutural opacities"@en, "central saccular cataract with sutural opacities"@en, "early-onset cataract with Y-shaped suture opacities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110254"^^xsd:string ; a owl:Class ; rdfs:label "cataract 25"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110255 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:116800"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110255"^^xsd:string ; a owl:Class ; rdfs:label "cataract 5 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110256 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610202"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT21"@en, "cataract 21 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CCA4"@en, "congenital cataract Cerulean type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110256"^^xsd:string ; a owl:Class ; rdfs:label "cataract 21 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110257 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:601202"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT24"@en ; oboInOwl:hasNarrowSynonym "CTAA2"@en, "anterior polar cataract 2"@en, "anterior polar cataract 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110257"^^xsd:string ; a owl:Class ; rdfs:label "cataract 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110258 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:600881"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT10"@en ; oboInOwl:hasNarrowSynonym "CCZS"@en, "congenital zonular cataract with sutural opacities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110258"^^xsd:string ; a owl:Class ; rdfs:label "cataract 10 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110259 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:616279"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110259"^^xsd:string ; a owl:Class ; rdfs:label "cataract 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110260 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 17q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:115660"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT7"@en ; oboInOwl:hasNarrowSynonym "CCA1"@en, "Cerulean type cataract 7"@en, "congenital Cerulean type cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110260"^^xsd:string ; a owl:Class ; rdfs:label "cataract 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110261 obo:IAO_0000115 "A cataract that has_material_basis_in variation in the region 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:609376"^^xsd:string ; oboInOwl:hasExactSynonym "CATCN1"@en, "CTRCT35"@en, "autosomal recessive congenital nuclear cataract 1"@en, "cataract 35, congenital nuclear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110261"^^xsd:string ; a owl:Class ; rdfs:label "cataract 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110262 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:616851"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT45"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110262"^^xsd:string ; a owl:Class ; rdfs:label "cataract 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110263 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:615277"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110263"^^xsd:string ; a owl:Class ; rdfs:label "cataract 19 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110264 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:611391"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT33"@en ; oboInOwl:hasNarrowSynonym "cortical cataract 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110264"^^xsd:string ; a owl:Class ; rdfs:label "cataract 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110265 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:605387"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT31"@en ; oboInOwl:hasNarrowSynonym "CPP3"@en, "CTPP3"@en, "posterior polar cataract 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110265"^^xsd:string ; a owl:Class ; rdfs:label "cataract 31 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110266 obo:IAO_0000115 "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:604219"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT9"@en, "cataract 9 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CATC1"@en, "autosomal recessive congenital cataract 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110266"^^xsd:string ; a owl:Class ; rdfs:label "cataract 9 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110267 obo:IAO_0000115 "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:616509"^^xsd:string, "ORDO:98994"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT44"@en, "total early-onset cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110267"^^xsd:string ; a owl:Class ; rdfs:label "cataract 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110268 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:609741"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT22"@en ; oboInOwl:hasNarrowSynonym "CATCN2"@en, "autosomal recessive congenital nuclear cataract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110268"^^xsd:string ; a owl:Class ; rdfs:label "cataract 22 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110269 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:601547"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT3"@en, "cataract 3 multiple types with or without microcornea"@en ; oboInOwl:hasNarrowSynonym "CCA2"@en, "congenital Cerulean type cataract 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110269"^^xsd:string ; a owl:Class ; rdfs:label "cataract 3 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110270 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:611544"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT17"@en ; oboInOwl:hasNarrowSynonym "CATCN3"@en, "autosomal recessive congenital nuclear cataract 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110270"^^xsd:string ; a owl:Class ; rdfs:label "cataract 17 multiple types"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110271 obo:IAO_0000115 "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:610425"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT23"@en, "lamellar cataract 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110271"^^xsd:string ; a owl:Class ; rdfs:label "cataract 23"^^xsd:string ; rdfs:subClassOf obo:DOID_83 . obo:DOID_0110272 obo:IAO_0000115 "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.0"^^xsd:string, "OMIM:302200"^^xsd:string ; oboInOwl:hasExactSynonym "CTRCT40"@en, "cataract 40 X-linked"@en, "cataract 40 with or without microcornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110272"^^xsd:string ; a owl:Class ; rdfs:label "cataract 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_83, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110273 obo:IAO_0000115 "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:PS603511"^^xsd:string, "ORDO:102014"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110273"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110274 obo:IAO_0000115 "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:PS253600"^^xsd:string, "ORDO:102015"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110274"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110275 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "GARD:3845"^^xsd:string, "ICD10CM:G71.0"^^xsd:string, "OMIM:253600"^^xsd:string, "ORDO:267"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2A"@en, "Leyden-Moebius muscular dystrophy"@en, "limb-girdle muscular dystrophy due to calpain deficiency"@en, "muscular dystrophy, limb-girdle, type 2A"@en, "pelvofemoral muscular dystrophy"@en, "primary calpainopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110275"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110276 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:253601"^^xsd:string, "ORDO:268"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2B"@en, "LGMD3"@en, "limb-girdle muscular dystrophy due to dysferlin deficiency"@en, "limb-girdle muscular dystrophy type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110276"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110277 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:253700"^^xsd:string, "ORDO:353"^^xsd:string ; oboInOwl:hasExactSynonym "DMDA1"@en, "LGMD2C"@en, "Maghrebian myopathy"@en, "SCARMD"@en, "autosomal recessive Duchenne-like muscular dystrophy type 1"@en, "deficiency of sarcoglycan gamma"@en, "gamma-sarcoglycanopathy"@en, "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency"@en, "muscular dystrophy, limb-girdle, type 2C"@en, "severe childhood autosomal recessive muscular dystrophy North African type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110277"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110278 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:608099"^^xsd:string, "ORDO:62"^^xsd:string ; oboInOwl:hasExactSynonym "Alpha-sarcoglycanopathy"@en, "DMDA2"@en, "Duchenne-like autosomal recessive muscular dystrophy type 2"@en, "LGMD2D"@en, "muscular dystrophy, limb-girdle, type 2D"@en, "primary adhalinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110278"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110279 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:604286"^^xsd:string, "ORDO:119"^^xsd:string ; oboInOwl:hasExactSynonym "Beta-sarcoglycanopathy"@en, "LGMD2E"@en, "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency"@en, "muscular dystrophy, limb-girdle, type 2E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110279"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110280 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:601287"^^xsd:string, "ORDO:219"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2F"@en, "delta-sarcoglycanopathy"@en, "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110280"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2F"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110281 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:601954"^^xsd:string, "ORDO:34514"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2G"@en, "limb-girdle muscular dystrophy due to telethonin deficiency"@en, "muscular dystrophy, limb-girdle, type 2G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110281"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2G"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110282 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:254110"^^xsd:string, "ORDO:1878"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2H"@en, "limb-girdle muscular dystrophy due to TRIM32 deficiency"@en, "muscular dystrophy Hutterite type"@en, "sarcotubular myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110282"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2H"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110283 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:608807"^^xsd:string, "ORDO:140922"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2J"@en, "muscular dystrophy, limb-girdle, type 2J"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110283"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2J"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110284 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:611307"^^xsd:string, "ORDO:206549"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2L"@en, "muscular dystrophy, limb-girdle, type 2L"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110284"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2L"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110285 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613723"^^xsd:string, "ORDO:254361"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2Q"@en, "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency"@en, "muscular dystrophy, limb-girdle, type 2Q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110285"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110286 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110286"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal recessive limb-girdle muscular dystrophy type 2R"^^xsd:string ; owl:deprecated true . obo:DOID_0110287 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:615356"^^xsd:string, "ORDO:369840"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2S"@en, "muscular dystrophy, limb-girdle, type 2S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110287"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2S"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110288 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616827"^^xsd:string, "ORDO:466801"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2W"@en, "muscular dystrophy, limb-girdle, type 2W"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110288"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2W"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110289 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:617072"^^xsd:string, "ORDO:424261"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2Y"@en, "autosomal recessive muscular dystrophy due to LAP1B deficiency"@en, "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency"@en, "muscular dystrophy with progressive weakness, distal contractures and rigid spine"@en, "muscular dystrophy, limb-girdle, type 2Y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110289"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Y"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110290 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616812"^^xsd:string, "ORDO:476084"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2X"@en, "muscular dystrophy, limb-girdle, type 2X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110290"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2X"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110291 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:611755"^^xsd:string ; oboInOwl:hasExactSynonym "LCA10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110291"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110292 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613157"^^xsd:string, "ORDO:206564"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2O"@en, "MDDGC3"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3"@en, "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110292"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2O"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110293 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613818"^^xsd:string, "ORDO:280333"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2P"@en, "MDDGC9"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9"@en, "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110293"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2P"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110294 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:615352"^^xsd:string, "ORDO:363623"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2T"@en, "MDDGC14"@en, "muscular dystrophy limb-girdle type 2T"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14"@en, "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110294"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2T"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110295 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:616052"^^xsd:string, "ORDO:352479"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2U"@en, "MDDGC7"@en, "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency"@en, "muscular dystrophy limb-girdle type 2U"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110295"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2U"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110296 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:611588"^^xsd:string, "ORDO:206554"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2M"@en, "MDDGC4"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110296"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2M"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110297 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:609308"^^xsd:string, "ORDO:86812"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2K"@en, "MDDGC1"@en, "limb-girdle muscular dystrophy-intellectual disability syndrome"@en, "muscular dystrophy limb-girdle type 2K"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110297"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2K"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110298 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613158"^^xsd:string, "ORDO:206559"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2N"@en, "MDDGC2"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2"@en, "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110298"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2N"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110299 obo:IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:607155"^^xsd:string, "ORDO:34515"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD2I"@en, "Limb-girdle muscular dystrophy due to FKRP deficiency"@en, "MDDGC5"@en, "muscular dystrophy limb-girdle type 2I"@en, "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5"@en, "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110299"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2I"^^xsd:string ; rdfs:subClassOf obo:DOID_0110274 . obo:DOID_0110300 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110300"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A"^^xsd:string ; owl:deprecated true . obo:DOID_0110301 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1B"^^xsd:string ; owl:deprecated true . obo:DOID_0110302 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110302"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1C"^^xsd:string ; owl:deprecated true . obo:DOID_0110303 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:613530"^^xsd:string, "ORDO:238755"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1H"@en, "muscular dystrophy limb-girdle type 1H"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110303"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 1H"@en ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110304 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:608423"^^xsd:string, "ORDO:55595"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1F"@en, "autosomal dominant limb-girdle muscular dystrophy type 1F"@en, "muscular dystrophy limb-girdle type 1F"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110304"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110305 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:603511"^^xsd:string, "ORDO:34517"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1D"@en, "autosomal dominant limb-girdle muscular dystrophy type 1E"@en, "muscular dystrophy limb-girdle type 1D"@en, "muscular dystrophy limb-girdle type 1E"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110305"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110306 obo:IAO_0000115 "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.0"^^xsd:string, "OMIM:609115"^^xsd:string, "ORDO:55596"^^xsd:string ; oboInOwl:hasExactSynonym "LGMD1G"@en, "autosomal dominant limb-girdle muscular dystrophy type 1G"@en, "muscular dystrophy limb-girdle type 1G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110306"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0110273 . obo:DOID_0110307 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110325"^^xsd:string ; oboInOwl:hasDbXref "OMIM:192600"^^xsd:string ; oboInOwl:hasExactSynonym "CMH1"@en, "cardiomyopathy, familial hypertrophic 1"@en, "hypertrophic cardiomyopathy 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110307"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110308 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115195"^^xsd:string ; oboInOwl:hasExactSynonym "CMH2"@en, "cardiomyopathy familial hypertrophic 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110308"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110309 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115196"^^xsd:string ; oboInOwl:hasExactSynonym "CMH3"@en, "cardiomyopathy familial hypertrophic 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110309"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110310 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115197"^^xsd:string ; oboInOwl:hasExactSynonym "CMH4"@en, "cardiomyopathy, familial hypertrophic, 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110310"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110311 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614676"^^xsd:string ; oboInOwl:hasExactSynonym "CMH21"@en, "cardiomyopathy familial hypertrophic 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110311"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110312 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2)."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600858"^^xsd:string ; oboInOwl:hasExactSynonym "CMH6"@en, "cardiomyopathy, familial hypertrophic 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110312"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110313 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613690"^^xsd:string ; oboInOwl:hasExactSynonym "CMH7"@en, "cardiomyopathy, familial hypertrophic 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110313"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110314 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608751"^^xsd:string ; oboInOwl:hasExactSynonym "cardiomyopathy hypertrophic mid-left ventricular chamber type 1"@en, "cardiomyopathy, familial hypertrophic, 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110314"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110315 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613765"^^xsd:string ; oboInOwl:hasExactSynonym "CMH9"@en, "cardiomyopathy, familial hypertrophic, 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110315"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110316 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608758"^^xsd:string ; oboInOwl:hasExactSynonym "CMH10"@en, "cardiomyopathy, familial hypertrophic, 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110316"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110317 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612098"^^xsd:string ; oboInOwl:hasExactSynonym "CMH11"@en, "cardiomyopathy familial hypertrophic 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110317"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110318 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612124"^^xsd:string ; oboInOwl:hasExactSynonym "CMH12"@en, "cardiomyopathy familial hypertrophic 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110318"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110319 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613243"^^xsd:string ; oboInOwl:hasExactSynonym "CMH13"@en, "cardiomyopathy familial hypertrophic 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110319"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110320 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613251"^^xsd:string ; oboInOwl:hasExactSynonym "CMH14"@en, "cardiomyopathy familial hypertrophic 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110320"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110321 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613255"^^xsd:string ; oboInOwl:hasExactSynonym "CMH15"@en, "cardiomyopathy familial hypertrophic 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110321"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110322 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613838"^^xsd:string ; oboInOwl:hasExactSynonym "CMH16"@en, "cardiomyopathy familial hypertrophic 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110322"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110323 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613873"^^xsd:string ; oboInOwl:hasExactSynonym "CMH17"@en, "cardiomyopathy familial hypertrophic 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110323"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110324 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613874"^^xsd:string ; oboInOwl:hasExactSynonym "CMH18"@en, "cardiomyopathy familial hypertrophic 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110324"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110325 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110325"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypertrophic cardiomyopathy 19"^^xsd:string ; owl:deprecated true . obo:DOID_0110326 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613876"^^xsd:string ; oboInOwl:hasExactSynonym "CMH20"@en, "cardiomyopathy familial hypertrophic 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110326"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110327 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617047"^^xsd:string ; oboInOwl:hasExactSynonym "CMH26"@en, "cardiomyopathy familial hypertrophic 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110327"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110328 obo:IAO_0000115 "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607487"^^xsd:string ; oboInOwl:hasExactSynonym "CMH25"@en, "cardiomyopathy familial hypertrophic 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110328"^^xsd:string ; a owl:Class ; rdfs:label "hypertrophic cardiomyopathy 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0080326 . obo:DOID_0110329 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613826"^^xsd:string ; oboInOwl:hasExactSynonym "LCA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110329"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110330 obo:IAO_0000115 "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612712"^^xsd:string ; oboInOwl:hasExactSynonym "LCA13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110330"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110331 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:604232"^^xsd:string ; oboInOwl:hasExactSynonym "LCA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110331"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110332 obo:IAO_0000115 "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:604393"^^xsd:string ; oboInOwl:hasExactSynonym "LCA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110332"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000488 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000563 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110333 obo:IAO_0000115 "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613829"^^xsd:string ; oboInOwl:hasExactSynonym "LCA7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110333"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_14791, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110334 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8694"^^xsd:string, "MESH:D010013"^^xsd:string, "NCI:C99003"^^xsd:string, "OMIM:166200"^^xsd:string, "ORDO:216796"^^xsd:string, "SNOMEDCT_US_2021_03_01:3508009"^^xsd:string, "UMLS_CUI:C0023931"^^xsd:string ; oboInOwl:hasExactSynonym "OI1"@en, "osteogenesis imperfecta type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110334"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110335 obo:IAO_0000115 "An osteogenesis imperfecta found in a single South African family."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:166230"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110335"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures"^^xsd:string ; rdfs:subClassOf obo:DOID_12347 . obo:DOID_0110336 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10152"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:610915"^^xsd:string ; oboInOwl:hasExactSynonym "OI8"@en, "osteogenesis imperfecta type VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110336"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110337 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:8701"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:610682"^^xsd:string ; oboInOwl:hasExactSynonym "OI7"@en, "osteogenesis imperfecta type VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110337"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110338 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:616507"^^xsd:string ; oboInOwl:hasExactSynonym "OI17"@en, "osteogenesis imperfecta type XVII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110338"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110339 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8695"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:259420"^^xsd:string ; oboInOwl:hasExactSynonym "OI3"@en, "osteogenesis imperfecta type III"@en, "progressively deforming osteogenesis imperfecta with normal sclera"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110339"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110340 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8696"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:166220"^^xsd:string ; oboInOwl:hasExactSynonym "OI4"@en, "osteogenesis imperfecta type IV"@en, "osteogenesis imperfecta with normal sclera"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110340"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110341 obo:IAO_0000115 "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10142"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:166210"^^xsd:string ; oboInOwl:hasExactSynonym "OI2"@en, "Vrolik type of osteogenesis imperfecta"@en, "osteogenesis imperfecta type II"@en, "perinatal lethal osteogenesis imperfecta congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110341"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110342 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:614856"^^xsd:string ; oboInOwl:hasExactSynonym "OI13"@en, "osteogenesis imperfecta type XIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110342"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110343 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:615066"^^xsd:string ; oboInOwl:hasExactSynonym "OI14"@en, "osteogenesis imperfecta type XIV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110343"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110344 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:8699"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:610967"^^xsd:string ; oboInOwl:hasExactSynonym "OI5"@en, "osteogenesis imperfecta type V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110344"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110345 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:616229"^^xsd:string ; oboInOwl:hasExactSynonym "OI16"@en, "chromosome 11p11.2 deletion syndrome 91.3-KB"@en, "osteogenesis imperfecta type XVI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110345"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 16"^^xsd:string ; rdfs:subClassOf obo:DOID_12347 . obo:DOID_0110346 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:613848"^^xsd:string ; oboInOwl:hasExactSynonym "OI10"@en, "osteogenesis imperfecta type X"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110346"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110347 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:615220"^^xsd:string ; oboInOwl:hasExactSynonym "OI15"@en, "osteogenesis imperfecta type XV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110347"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110348 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:613849"^^xsd:string ; oboInOwl:hasExactSynonym "OI12"@en, "osteogenesis imperfecta type XII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110348"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110349 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10619"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:259440"^^xsd:string ; oboInOwl:hasExactSynonym "OI9"@en, "osteogenesis imperfecta type IX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110349"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110350 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8700"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "OMIM:613982"^^xsd:string ; oboInOwl:hasExactSynonym "OI6"@en, "osteogenesis imperfecta type VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110350"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110351 obo:IAO_0000115 "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q78.0"^^xsd:string, "OMIM:610968"^^xsd:string ; oboInOwl:hasExactSynonym "OI11"@en, "osteogenesis imperfecta type XI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110351"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110352 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613861"^^xsd:string ; oboInOwl:hasExactSynonym "RP59"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110352"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110353 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613794"^^xsd:string ; oboInOwl:hasExactSynonym "RP20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110353"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110354 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:601718"^^xsd:string ; oboInOwl:hasExactSynonym "RP19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110354"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110355 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:609913"^^xsd:string ; oboInOwl:hasExactSynonym "RP32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110355"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 32"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110356 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:601414"^^xsd:string ; oboInOwl:hasExactSynonym "RP18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110356"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110357 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610282"^^xsd:string ; oboInOwl:hasExactSynonym "RP35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110357"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110358 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600105"^^xsd:string ; oboInOwl:hasExactSynonym "RP12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110358"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110359 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615565"^^xsd:string ; oboInOwl:hasExactSynonym "RP67"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110359"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 67"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110360 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613809"^^xsd:string ; oboInOwl:hasExactSynonym "RP39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110360"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 39"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110361 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:617023"^^xsd:string ; oboInOwl:hasExactSynonym "RP75"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110361"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110362 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613617"^^xsd:string ; oboInOwl:hasExactSynonym "RP58"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110362"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 58"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110363 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616394"^^xsd:string ; oboInOwl:hasExactSynonym "RP71"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110363"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110364 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613428"^^xsd:string ; oboInOwl:hasExactSynonym "RP54"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110364"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 54"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110365 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:606068"^^xsd:string ; oboInOwl:hasExactSynonym "RP28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110365"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110366 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610359"^^xsd:string ; oboInOwl:hasExactSynonym "RP33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110366"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110367 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613862"^^xsd:string ; oboInOwl:hasExactSynonym "RP38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110367"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110368 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:608380"^^xsd:string ; oboInOwl:hasExactSynonym "RP26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110368"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110369 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613758"^^xsd:string ; oboInOwl:hasExactSynonym "RP47"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110369"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 47"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110370 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613575"^^xsd:string ; oboInOwl:hasExactSynonym "RP55"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110370"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 55"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110371 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613581"^^xsd:string ; oboInOwl:hasExactSynonym "RP56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110371"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110372 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "MESH:C566706"^^xsd:string, "OMIM:613731"^^xsd:string ; oboInOwl:hasExactSynonym "RP4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110372"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110373 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614180"^^xsd:string ; oboInOwl:hasExactSynonym "RP61"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110373"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 61"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110374 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615725"^^xsd:string ; oboInOwl:hasExactSynonym "RP68"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110374"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110375 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613801"^^xsd:string ; oboInOwl:hasExactSynonym "RP40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110375"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110376 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612095"^^xsd:string ; oboInOwl:hasExactSynonym "RP41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110376"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110377 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613756"^^xsd:string ; oboInOwl:hasExactSynonym "RP49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110377"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 49"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110378 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612165"^^xsd:string ; oboInOwl:hasExactSynonym "RP29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110378"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110379 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613810"^^xsd:string ; oboInOwl:hasExactSynonym "RP43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110379"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 43"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110380 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614181"^^xsd:string ; oboInOwl:hasExactSynonym "RP62"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110380"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110381 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600132"^^xsd:string ; oboInOwl:hasExactSynonym "RP14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110381"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110382 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613827"^^xsd:string ; oboInOwl:hasExactSynonym "RP48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110382"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 48"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110383 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:608133"^^xsd:string ; oboInOwl:hasExactSynonym "RP7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110383"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_0080578, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0110384 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602772"^^xsd:string ; oboInOwl:hasExactSynonym "RP25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110384"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110385 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614494"^^xsd:string ; oboInOwl:hasExactSynonym "RP63"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110385"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110386 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612943"^^xsd:string ; oboInOwl:hasExactSynonym "RP42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110386"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110387 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:180104"^^xsd:string ; oboInOwl:hasExactSynonym "RP9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110387"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110388 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:180105"^^xsd:string ; oboInOwl:hasExactSynonym "RP10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110388"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110389 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616544"^^xsd:string ; oboInOwl:hasExactSynonym "RP73"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110389"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110390 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "MESH:C538365"^^xsd:string, "OMIM:180100"^^xsd:string ; oboInOwl:hasExactSynonym "RP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110390"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110391 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:609923"^^xsd:string ; oboInOwl:hasExactSynonym "RP31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110391"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 31"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110392 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615922"^^xsd:string ; oboInOwl:hasExactSynonym "RP70"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110392"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110393 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615233"^^xsd:string ; oboInOwl:hasExactSynonym "RP66"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110393"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 66"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110394 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613769"^^xsd:string ; oboInOwl:hasExactSynonym "RP44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110394"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 44"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110395 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616469"^^xsd:string ; oboInOwl:hasExactSynonym "RP72"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110395"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110396 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613194"^^xsd:string ; oboInOwl:hasExactSynonym "RP50"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110396"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110397 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613750"^^xsd:string ; oboInOwl:hasExactSynonym "RP27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110397"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110398 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613464"^^xsd:string ; oboInOwl:hasExactSynonym "RP51"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110398"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 51"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110399 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:611131"^^xsd:string ; oboInOwl:hasExactSynonym "RP37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110399"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110400 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602594"^^xsd:string ; oboInOwl:hasExactSynonym "RP22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110400"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 22"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110401 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:616562"^^xsd:string ; oboInOwl:hasExactSynonym "RP74"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110401"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110402 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613767"^^xsd:string ; oboInOwl:hasExactSynonym "RP45"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110402"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110403 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600059"^^xsd:string ; oboInOwl:hasExactSynonym "RP13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110403"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110404 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600852"^^xsd:string ; oboInOwl:hasExactSynonym "RP17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110404"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110405 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:610599"^^xsd:string ; oboInOwl:hasExactSynonym "RP36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110405"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 36"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110406 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:607921"^^xsd:string ; oboInOwl:hasExactSynonym "RP30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110406"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 30"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110407 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613582"^^xsd:string ; oboInOwl:hasExactSynonym "RP57"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110407"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110408 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:600138"^^xsd:string ; oboInOwl:hasExactSynonym "RP11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110408"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110409 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612572"^^xsd:string ; oboInOwl:hasExactSynonym "RP46"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110409"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 46"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110410 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615780"^^xsd:string ; oboInOwl:hasExactSynonym "RP69"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110410"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110411 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:613983"^^xsd:string ; oboInOwl:hasExactSynonym "RP60"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110411"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 60"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110412 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300424"^^xsd:string ; oboInOwl:hasExactSynonym "RP23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110412"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110413 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:312612"^^xsd:string ; oboInOwl:hasExactSynonym "RP6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110413"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110414 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300029"^^xsd:string ; oboInOwl:hasExactSynonym "RP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110414"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 3"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110415 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:312600"^^xsd:string ; oboInOwl:hasExactSynonym "RP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110415"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110416 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300155"^^xsd:string ; oboInOwl:hasExactSynonym "RP24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110416"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110417 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:300605"^^xsd:string ; oboInOwl:hasExactSynonym "RP34"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110417"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 34"^^xsd:string ; rdfs:subClassOf obo:DOID_10584 . obo:DOID_0110418 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:400004"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110418"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa Y-linked"^^xsd:string ; rdfs:subClassOf obo:DOID_0050738, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0110419 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:615434"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110419"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa with or without situs inversus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110420 obo:IAO_0000115 "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:180210"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110420"^^xsd:string ; a owl:Class ; rdfs:label "dominant pericentral pigmentary retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110421 obo:IAO_0000115 "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:268025"^^xsd:string ; oboInOwl:hasExactSynonym "senile retinitis pigmentosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110421"^^xsd:string ; a owl:Class ; rdfs:label "late-adult onset retinitis pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:HP_0003584 obo:HP_0003596 ) ] ] . obo:DOID_0110422 obo:IAO_0000115 "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:268060"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110422"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive pericentral pigmentary retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110423 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:601493"^^xsd:string ; oboInOwl:hasExactSynonym "CMDC1"@en, "dilated cardiomyopathy 1C with or without left ventricular noncompaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110423"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110424 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613122"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1CC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110424"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1CC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110425 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115200"^^xsd:string, "ORDO:300751"^^xsd:string ; oboInOwl:hasExactSynonym "CDCD1"@en, "dilated cardiomyopathy with conduction defect 1"@en, "familial dilated cardiomyopathy with conduction defect due to LMNA mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110425"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110426 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:601494"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110426"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110427 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613697"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110427"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110428 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:612158"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1AA"@en, "dilated cardiomyopathy 1AA with or without left ventricular noncompaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110428"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1AA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110429 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:604288"^^xsd:string ; oboInOwl:hasExactSynonym "dilated cardiomyopathy with conduction defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110429"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110430 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:604145"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110430"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110431 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:604765"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110431"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110432 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615916"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1NN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110432"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1NN"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110433 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:601154"^^xsd:string ; oboInOwl:hasExactSynonym "CDCD2"@en, "CMD1E"@en, "dilated cardiomyopathy with conduction defect 2"@en, "dilated cardiomyopathy with conduction disorder and arrhythmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110433"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110434 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611879"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1Z"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110434"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1Z"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110435 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613642"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1GG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110435"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1GG"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110436 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:606685"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1L"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110436"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1L"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110437 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:605582"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1K"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110437"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1K"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110438 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615235"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1JJ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110438"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1JJ"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110439 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:609909"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1P"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110439"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1P"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110440 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605362"^^xsd:string, "ORDO:217622"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1J"@en, "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss"@en, "neurosensory deafness with dilated cardiomyopathy"@en, "neurosensory hearing loss with dilated cardiomyopathy"@en, "sensorineural deafness with dilated cardiomyopathy"@en, "sensorineural hearing loss with dilated cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110440"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110441 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:614672"^^xsd:string ; oboInOwl:hasExactSynonym "CMD2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110441"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110442 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:609915"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1Q"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110442"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110443 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:600884"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110443"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110444 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611615"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1X"@en, "dilated cardiomyopathy with mild or no proximal muscle weakness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110444"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1X"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110445 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615248"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1KK"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110445"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1KK"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110446 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611407"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1W"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110446"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1W"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110447 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613172"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1DD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110447"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1DD"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110448 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613881"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1HH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110448"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1HH"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110449 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:607482"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1M"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110449"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1M"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110450 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:615184"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110450"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110451 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:608569"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1O"@en, "dilated cardiomyopathy with ventricular tachycardia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110451"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1O"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110452 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1T"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110452"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1T"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110453 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613252"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1EE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110453"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1EE"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110454 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613426"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110454"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1S"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110455 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613694"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1U"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110455"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1U"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110456 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613424"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1R"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110456"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1R"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110457 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611878"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1Y"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110457"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1Y"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110458 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:612877"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1BB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110458"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1BB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110459 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:613286"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1FF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110459"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 1FF"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110460 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "OMIM:611880"^^xsd:string ; oboInOwl:hasExactSynonym "CMD2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110460"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110461 obo:IAO_0000115 "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060561"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I42.0"^^xsd:string, "MESH:C580047"^^xsd:string, "OMIM:302045"^^xsd:string ; oboInOwl:hasExactSynonym "CMD3B"@en, "DMD-related dilated cardiomyopathy"@en, "dilated cardiomyopathy 3B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110461"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dilated cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_12930, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0110462 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615837"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB101"@en, "autosomal recessive deafness 101"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110462"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 101"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110463 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615974"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB102"@en, "autosomal recessive deafness 102"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110463"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 102"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110464 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616042"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB103"@en, "autosomal recessive deafness 103"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110464"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 103"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110465 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616515"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB104"@en, "autosomal recessive deafness 104"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110465"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 104"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110466 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110466"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal recessive nonsyndromic deafness 105"^^xsd:string ; owl:deprecated true . obo:DOID_0110467 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601386"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB12"@en, "autosomal recessive deafness 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110467"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110468 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603098"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB13"@en, "autosomal recessive deafness 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110468"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110469 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603678"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB14"@en, "autosomal recessive deafness 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110469"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110470 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601869"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB15"@en, "DFNB72"@en, "DFNB95"@en, "autosomal recessive deafness 15"@en, "autosomal recessive deafness 72"@en, "autosomal recessive deafness 95"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110470"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110471 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603720"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB16"@en, "autosomal recessive deafness 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110471"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110472 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603010"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB17"@en, "autosomal recessive deafness 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110472"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110473 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:602092"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB18A"@en, "autosomal recessive deafness 18A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110473"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 18A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110474 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614945"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB18B"@en, "autosomal recessive deafness 18B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110474"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 18B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110475 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:220290"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB1A"@en, "autosomal recessive deafness 1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110475"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110476 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612645"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB1B"@en, "autosomal recessive deafness 1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110476"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110477 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600060"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB2"@en, "autosomal recessive deafness 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110477"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110478 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:604060"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB20"@en, "autosomal recessive deafness 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110478"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110479 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603629"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB21"@en, "autosomal recessive deafness 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110479"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110480 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607039"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB22"@en, "autosomal recessive deafness 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110480"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110481 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609533"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB23"@en, "autosomal recessive deafness 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110481"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110482 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:611022"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB24"@en, "autosomal recessive deafness 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110482"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110483 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613285"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB25"@en, "autosomal recessive deafness 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110483"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110484 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605428"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB26"@en, "autosomal recessive deafness 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110484"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110485 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605818"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB27"@en, "autosomal recessive deafness 27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110485"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110486 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609823"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB28"@en, "autosomal recessive deafness 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110486"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110487 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614035"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB29"@en, "autosomal recessive deafness 29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110487"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110488 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600316"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB3"@en, "NRSD3"@en, "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110488"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110489 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607101"^^xsd:string, "ORDO:90636"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB30"@en, "autosomal recessive deafness 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110489"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110490 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607084"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB31"@en, "autosomal recessive deafness 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110490"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110491 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affeted men that has_material_basis_in mutation in CDC14A on chromosome 1p21.2."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0110466"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608653"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB32"@en, "HIIMS"^^xsd:string, "autosomal recessive deafness 105"@en, "autosomal recessive deafness 32"@en, "hearing impairment infertile male syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110491"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110492 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607239"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB33"@en, "autosomal recessive deafness 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110492"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110493 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608565"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB35"@en, "autosomal recessive deafness 35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110493"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110494 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609006"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB36"@en, "autosomal recessive deafness 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110494"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110495 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607821"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB37"@en, "autosomal recessive deafness 37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110495"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110496 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608219"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB38"@en, "autosomal recessive deafness 38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110496"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110497 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608265"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB39"@en, "autosomal recessive deafness 39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110497"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110498 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600791"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB4"@en, "autosomal recessive deafness 4 with enlarged vestibular aqueduct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110498"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110499 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608264"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB40"@en, "autosomal recessive deafness 40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110499"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110500 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609646"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB42"@en, "autosomal recessive deafness 42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110500"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110501 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610154"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB44"@en, "autosomal recessive deafness 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110501"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110502 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612433"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB45"@en, "autosomal recessive deafness 45"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110502"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110503 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609647"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB46"@en, "autosomal recessive deafness 46"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110503"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110504 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609946"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB47"@en, "autosomal recessive deafness 47"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110504"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110505 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609439"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB48"@en, "autosomal recessive deafness 48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110505"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110506 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610153"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB49"@en, "autosomal recessive deafness 49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110506"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110507 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600792"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB5"@en, "autosomal recessive deafness 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110507"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110508 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609941"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB51"@en, "autosomal recessive deafness 51"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110508"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110509 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:609706"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB53"@en, "autosomal recessive deafness 53"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110509"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110510 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9919"^^xsd:string, "ICD10CM:H90.3"^^xsd:string, "OMIM:609952"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB55"@en, "autosomal recessive deafness 55"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110510"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 55"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110511 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610220"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB59"@en, "autosomal recessive deafness 59"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110511"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110512 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600971"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB6"@en, "autosomal recessive deafness 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110512"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110513 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613865"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB61"@en, "autosomal recessive deafness 61"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110513"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110514 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610143"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB62"@en, "autosomal recessive deafness 62"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110514"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110515 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:611451"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB63"@en, "autosomal recessive deafness 63"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110515"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110516 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610248"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB65"@en, "autosomal recessive deafness 65"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110516"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110517 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610212"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB66"@en, "autosomal recessive deafness 66"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110517"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110518 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610265"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB67"@en, "autosomal recessive deafness 67"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110518"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 67"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110519 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:610419"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB68"@en, "autosomal recessive deafness 68"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110519"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110520 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600974"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB11"@en, "DFNB7"@en, "autosomal recessive deafness 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110520"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110521 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614934"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB70"@en, "autosomal recessive deafness 70"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110521"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110522 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612789"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB71"@en, "autosomal recessive deafness 71"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110522"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110523 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613718"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB74"@en, "autosomal recessive deafness 74"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110523"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110524 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615540"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB76"@en, "autosomal recessive deafness 76"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110524"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110525 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613079"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB77"@en, "autosomal recessive deafness 77"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110525"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110526 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613307"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB79"@en, "autosomal recessive deafness 79"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110526"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110527 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601072"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB10"@en, "DFNB8"@en, "NRSD8"@en, "autosomal recessive deafness 10"@en, "autosomal recessive deafness 8"@en, "childhood-onset neurosensory autosomal recessive deafness 8"@en, "neurosensory nonsyndromic recessive deafness 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110527"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110528 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613685"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB83"@en, "autosomal recessive deafness 83"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110528"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 83"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110529 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613391"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB84A"@en, "autosomal recessive deafness 84A"@en, "autosomal recessive deafness 84A with vestibular dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110529"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 84A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110530 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614944"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB84B"@en, "autosomal recessive deafness 84B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110530"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 84B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110531 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613392"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB85"@en, "autosomal recessive deafness 85"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110531"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 85"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110532 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614617"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB86"@en, "autosomal recessive deafness 86"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110532"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 86"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110533 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615429"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB88"@en, "autosomal recessive deafness 88"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110533"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110534 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613916"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB89"@en, "autosomal recessive deafness 89"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110534"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110535 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601071"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB9"@en, "NRSD9"@en, "autosomal recessive deafness 9"@en, "neurosensory nonsyndromic recessive deafness 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110535"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110536 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613453"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB91"@en, "autosomal recessive deafness 91"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110536"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 91"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110537 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614899"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB93"@en, "autosomal recessive deafness 93"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110537"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 93"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110538 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614414"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB96"@en, "autosomal recessive deafness 96"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110538"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 96"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110539 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616705"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB97"@en, "autosomal recessive deafness 97"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110539"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 97"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110540 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614861"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB98"@en, "autosomal recessive deafness 98"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110540"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 98"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0110541 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:124900"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA1"@en, "Konigsmark syndrome"@en, "LFHL1"@en, "autosomal dominant deafness 1"@en, "autosomal dominant deafness 1, with or without thrombocytopenia"^^xsd:string, "hereditary low frequency hearing loss 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110541"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110542 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601316"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA10"@en, "autosomal dominant deafness 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110542"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110543 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601317"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA11"@en, "autosomal dominant deafness 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110543"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110544 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601543"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA12"@en, "DFNA8"@en, "autosomal dominant deafness 12"@en, "autosomal dominant deafness 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110544"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110545 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601868"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA13"@en, "autosomal dominant deafness 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110545"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110546 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:602459"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA15"@en, "autosomal dominant deafness 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110546"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110547 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603964"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA16"@en, "autosomal dominant deafness 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110547"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110548 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:603622"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA17"@en, "autosomal dominant deafness 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110548"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110549 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606012"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA18"@en, "autosomal dominant deafness 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110549"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110550 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:604717"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA20"@en, "DFNA26"@en, "autosomal dominant deafness 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110550"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110551 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607017"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA21"@en, "autosomal dominant deafness 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110551"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110552 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606346"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA22"@en, "autosomal dominant deafness 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110552"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110553 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605192"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA23"@en, "autosomal dominant deafness 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110553"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110554 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter."^^xsd:string ; oboInOwl:hasDbXref "GARD:9166"^^xsd:string, "ICD10CM:H90.3"^^xsd:string, "OMIM:606282"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA24"@en, "autosomal dominant deafness 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110554"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110555 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:605583"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA25"@en, "autosomal dominant deafness 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110555"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110556 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612431"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA27"@en, "autosomal dominant deafness 27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110556"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110557 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608641"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA28"@en, "autosomal dominant deafness 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110557"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110558 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600101"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA2A"@en, "autosomal dominant deafness 2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110558"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110559 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612644"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA2B"@en, "autosomal dominant deafness 2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110559"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110560 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606451"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA30"@en, "autosomal dominant deafness 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110560"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110561 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608645"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA31"@en, "autosomal dominant deafness 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110561"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110562 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614211"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA33"@en, "autosomal dominant deafness 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110562"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110563 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:606705"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA36"@en, "autosomal dominant deafness 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110563"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110564 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601544"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA3A"@en, "autosomal dominant deafness 3A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110564"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110565 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612643"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA3B"@en, "autosomal dominant deafness 3B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110565"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 3B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110566 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616357"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA40"@en, "autosomal dominant deafness 40"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110566"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110567 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608224"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA41"@en, "autosomal dominant deafness 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110567"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110568 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608394"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA43"@en, "autosomal dominant deafness 43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110568"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110569 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607453"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA44"@en, "autosomal dominant deafness 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110569"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110570 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608652"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA47"@en, "autosomal dominant deafness 47"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110570"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110571 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607841"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA48"@en, "autosomal dominant deafness 48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110571"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110572 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:608372"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA49"@en, "autosomal dominant deafness 49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110572"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110573 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600652"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA4A"@en, "autosomal dominant deafness 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110573"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110574 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614614"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA4B"@en, "autosomal dominant deafness 4B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110574"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110575 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600994"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA5"@en, "autosomal dominant deafness 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110575"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110576 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613074"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA50"@en, "autosomal dominant deafness 50"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110576"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110577 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:613558"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA51"@en, "autosomal dominant deafness 51"@en, "chromosome 9q21.11 duplication syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110577"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564, obo:DOID_0060429, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0110578 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:607683"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA52"@en, "autosomal dominant deafness 52"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110578"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110579 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:9934"^^xsd:string, "ICD10CM:H90.3"^^xsd:string, "OMIM:609965"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA53"@en, "autosomal dominant deafness 53"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110579"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110580 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615649"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA54"@en, "autosomal dominant deafness 54"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110580"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110581 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615629"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA56"@en, "autosomal dominant deafness 56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110581"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110582 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:615654"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA58"@en, "autosomal dominant deafness 58"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110582"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 58"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110583 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:612642"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA59"@en, "autosomal dominant deafness 59"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110583"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110584 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:600965"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA14"@en, "DFNA38"@en, "DFNA6"@en, "autosomal dominant deafness 14"@en, "autosomal dominant deafness 38"@en, "autosomal dominant deafness 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110584"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110585 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:614152"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA64"@en, "autosomal dominant deafness 64"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110585"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 64"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110586 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616044"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA65"@en, "autosomal dominant deafness 65"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110586"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110587 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616969"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA66"@en, "autosomal dominant deafness 66"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110587"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110588 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616340"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA67"@en, "autosomal dominant deafness 67"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110588"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 67"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110589 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616707"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA68"@en, "autosomal dominant deafness 68"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110589"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110590 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616697"^^xsd:string ; oboInOwl:hasExactSynonym "DCUA"@en, "DFNA69"@en, "autosomal dominant deafness 69"@en, "unilateral or asymmetric congenital deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110590"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110591 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601412"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA7"@en, "autosomal dominant deafness 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110591"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110592 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:616968"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA70"@en, "autosomal dominant deafness 70"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110592"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110593 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.3"^^xsd:string, "OMIM:601369"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA9"@en, "autosomal dominant deafness 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110593"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0110594 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:244400"^^xsd:string ; oboInOwl:hasExactSynonym "CILD1"@en, "primary ciliary dyskinesia 1 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110594"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110595 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.8"^^xsd:string, "OMIM:243605"^^xsd:string ; oboInOwl:hasExactSynonym "CILD31"@en, "apple peel syndrome with microcephaly and ocular anomalies"@en, "jejunal atresia with microcephaly and ocular anomalies"@en, "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"@en, "primary ciliary dyskinesia 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110595"^^xsd:string ; a owl:Class ; rdfs:label "Stromme syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110596 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615294"^^xsd:string ; oboInOwl:hasExactSynonym "CILD21"@en, "primary ciliary dyskinesia 21 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110596"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 21"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110597 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615444"^^xsd:string ; oboInOwl:hasExactSynonym "CILD22"@en, "primary ciliary dyskinesia 22 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110597"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 22"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110598 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:613807"^^xsd:string ; oboInOwl:hasExactSynonym "CILD14"@en, "primary ciliary dyskinesia 14 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110598"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110599 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:608644"^^xsd:string ; oboInOwl:hasExactSynonym "CILD3"@en, "primary ciliary dyskinesia 3 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110599"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110600 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615872"^^xsd:string ; oboInOwl:hasExactSynonym "CILD29"@en, "primary ciliary dyskinesia 29 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110600"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 29"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110601 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612650"^^xsd:string ; oboInOwl:hasExactSynonym "CILD12"@en, "primary ciliary dyskinesia 12 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110601"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110602 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612649"^^xsd:string ; oboInOwl:hasExactSynonym "CILD11"@en, "primary ciliary dyskinesia 11 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110602"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110603 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:616481"^^xsd:string ; oboInOwl:hasExactSynonym "CILD32"@en, "primary ciliary dyskinesia 32 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110603"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 32"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110604 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614874"^^xsd:string ; oboInOwl:hasExactSynonym "CILD18"@en, "primary ciliary dyskinesia 18 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110604"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110605 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:611884"^^xsd:string ; oboInOwl:hasExactSynonym "CILD7"@en, "primary ciliary dyskinesia 7 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110605"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110606 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:610852"^^xsd:string ; oboInOwl:hasExactSynonym "CILD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110606"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110607 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615505"^^xsd:string ; oboInOwl:hasExactSynonym "CILD28"@en, "primary ciliary dyskinesia 28 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110607"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 28"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110608 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614935"^^xsd:string ; oboInOwl:hasExactSynonym "CILD19"@en, "primary ciliary dyskinesia 19 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110608"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110609 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615451"^^xsd:string ; oboInOwl:hasExactSynonym "CILD23"@en, "primary ciliary dyskinesia 23 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110609"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110610 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617091"^^xsd:string ; oboInOwl:hasExactSynonym "CILD34"@en, "primary ciliary dyskinesia 34 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110610"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 34"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110611 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615504"^^xsd:string ; oboInOwl:hasExactSynonym "CILD27"@en, "primary ciliary dyskinesia 27 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110611"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110612 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612518"^^xsd:string ; oboInOwl:hasExactSynonym "CILD10"@en, "primary ciliary dyskinesia 10 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110612"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110613 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614017"^^xsd:string ; oboInOwl:hasExactSynonym "CILD16"@en, "primary ciliary dyskinesia 16 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110613"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110614 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:608646"^^xsd:string ; oboInOwl:hasExactSynonym "CILD4"@en, "primary ciliary dyskinesia 4 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110614"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110615 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615482"^^xsd:string ; oboInOwl:hasExactSynonym "CILD25"@en, "primary ciliary dyskinesia 25 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110615"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 25"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110616 obo:IAO_0000115 "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612274"^^xsd:string ; oboInOwl:hasExactSynonym "CILD8"@en, "primary ciliary dyskinesia 8 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110616"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110617 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:608647"^^xsd:string ; oboInOwl:hasExactSynonym "CILD5"@en, "primary ciliary dyskinesia 5 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110617"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110618 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:613193"^^xsd:string ; oboInOwl:hasExactSynonym "CILD13"@en, "primary ciliary dyskinesia 13 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110618"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110619 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:616726"^^xsd:string ; oboInOwl:hasExactSynonym "CILD33"@en, "primary ciliary dyskinesia 33 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110619"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 33"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110620 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617092"^^xsd:string ; oboInOwl:hasExactSynonym "CILD35"@en, "primary ciliary dyskinesia 35 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110620"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 35"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110621 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:614679"^^xsd:string ; oboInOwl:hasExactSynonym "CILD17"@en, "primary ciliary dyskinesia 17 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110621"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110622 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:612444"^^xsd:string ; oboInOwl:hasExactSynonym "CILD9"@en, "primary ciliary dyskinesia 9 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110622"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110623 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:613808"^^xsd:string ; oboInOwl:hasExactSynonym "CILD15"@en, "primary ciliary dyskinesia 15 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110623"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110624 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:616037"^^xsd:string ; oboInOwl:hasExactSynonym "CILD30"@en, "primary ciliary dyskinesia 30 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110624"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 30"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110625 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615067"^^xsd:string ; oboInOwl:hasExactSynonym "CILD20"@en, "primary ciliary dyskinesia 20 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110625"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 20"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110626 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:606763"^^xsd:string ; oboInOwl:hasExactSynonym "CILD2"@en, "primary ciliary dyskinesia 2 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110626"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000686 ] . obo:DOID_0110627 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615500"^^xsd:string ; oboInOwl:hasExactSynonym "CILD26"@en, "primary ciliary dyskinesia 26 with or without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110627"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 26"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110628 obo:IAO_0000115 "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q34.8"^^xsd:string, "OMIM:615481"^^xsd:string ; oboInOwl:hasExactSynonym "CILD24"@en, "primary ciliary dyskinesia 24 without situs inversus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110628"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0110629 obo:IAO_0000115 "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E13.8"^^xsd:string, "OMIM:222300"^^xsd:string ; oboInOwl:hasExactSynonym "DIDMOAD"@en, "WFS1"@en, "diabetes mellitus AND insipidus with optic atrophy AND deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110629"^^xsd:string ; a owl:Class ; rdfs:label "Wolfram syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; owl:disjointWith obo:DOID_0110630 . obo:DOID_0110630 obo:IAO_0000115 "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E13.8"^^xsd:string, "OMIM:604928"^^xsd:string ; oboInOwl:hasExactSynonym "WFS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110630"^^xsd:string ; a owl:Class ; rdfs:label "Wolfram syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10632, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0110631 obo:IAO_0000115 "A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:779"^^xsd:string, "ICD10CM:M62.8"^^xsd:string, "OMIM:253900"^^xsd:string, "ORDO:1155"^^xsd:string ; oboInOwl:hasExactSynonym "congenital muscular dystrophy producing arthrogryposis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110631"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis due to muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557 . obo:DOID_0110632 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:602541"^^xsd:string, "ORDO:280671"^^xsd:string ; oboInOwl:hasExactSynonym "congenital megaconial myopathy"@en, "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect"@en, "congenital muscular dystrophy with mitochondrial structural abnormalities"@en, "megaconial congenital muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110632"^^xsd:string ; a owl:Class ; rdfs:label "megaconial type congenital muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110633 obo:IAO_0000115 "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "GARD:4723"^^xsd:string, "ICD10CM:G71.2"^^xsd:string, "ICD10CM:G71.8"^^xsd:string, "MESH:C535683"^^xsd:string, "OMIM:602771"^^xsd:string, "ORDO:324604"^^xsd:string, "ORDO:84132"^^xsd:string, "ORDO:97244"^^xsd:string ; oboInOwl:hasExactSynonym "Eichsfeld type congenital muscular dystrophy"@en, "MDRS1"@en, "RSMD1"@en, "RSS"@en, "SEPN1-related myopathy"@en, "classic MmD"@en, "classic multiminicore disease"@en, "classic multiminicore myopathy"@en, "congenital merosin-positive muscular dystrophy with early spine rigidity"@en, "desmin-related myopathy with Mallory bodies"@en, "desmin-related myopathy with Mallory body-like inclusions"@en, "early-onset desmin-related myopathy"@en, "rigid spine syndrome"@en, "severe classic form minicore myopathy"@en, "severe classic form multicore myopathy"@en, "severe classic form multiminicore disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110633"^^xsd:string ; a owl:Class ; rdfs:label "rigid spine muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, obo:DOID_0060564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0110634 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:604801"^^xsd:string, "ORDO:98893"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1B"@en, "MDC1B"@en, "congenital muscular dystrophy type 1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110634"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110635 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:606612"^^xsd:string, "ORDO:52428"^^xsd:string ; oboInOwl:hasExactSynonym "FKRP-related congenital muscular dystrophy"@en, "MDC1C"@en, "MDDGB5"@en, "congenital muscular dystrophy 1C"@en, "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5"^^xsd:string, "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110635"^^xsd:string ; a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy type B5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110636 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537384"^^xsd:string, "NCI:C118783"^^xsd:string, "OMIM:607855"^^xsd:string, "ORDO:258"^^xsd:string, "SNOMEDCT_US_2021_03_01:787037000"^^xsd:string, "UMLS_CUI:C1263858"^^xsd:string ; oboInOwl:hasExactSynonym "CMD1A"@en, "MDC1A"@en, "Merosin-negative congenital muscular dystrophy"@en, "congenital muscular dystrophy due to laminin alpha2 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110636"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "congenital merosin-deficient muscular dystrophy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110637 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:608840"^^xsd:string, "ORDO:98894"^^xsd:string ; oboInOwl:hasExactSynonym "MDC1D"@en, "MDDGB6"@en, "congenital muscular dystrophy LARGE-related"@en, "congenital muscular dystrophy type 1D"@en, "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6"^^xsd:string, "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110637"^^xsd:string ; a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy type B6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110638 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609456"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110638"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy merosin-positive"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110639 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:613204"^^xsd:string, "ORDO:34520"^^xsd:string ; oboInOwl:hasExactSynonym "congenital muscular dystrophy with ITGA7 deficiency"@en, "congenital muscular dystrophy with integrin alpha-7 deficiency"@en, "congenital myopathy due to integrin alpha-7 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110639"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy due to integrin alpha-7 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110640 obo:IAO_0000115 "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.2"^^xsd:string, "OMIM:613205"^^xsd:string, "ORDO:157973"^^xsd:string ; oboInOwl:hasExactSynonym "L-CMD"@en, "LMNA-related congenital muscular dystrophy"@en, "congenital muscular dystrophy LMNA-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110640"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy due to LMNA mutation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050557, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110644 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:3284"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:192500"^^xsd:string ; oboInOwl:hasExactSynonym "LQT1"@en, "ventricular fibrillation with prolonged QT interval"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110644"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110645 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3285"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:613688"^^xsd:string ; oboInOwl:hasExactSynonym "LQT2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110645"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110646 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3286"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:603830"^^xsd:string ; oboInOwl:hasExactSynonym "LQT3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110646"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110647 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:10433"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:613695"^^xsd:string ; oboInOwl:hasExactSynonym "LQT5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110647"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110648 obo:IAO_0000115 "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10434"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:613693"^^xsd:string ; oboInOwl:hasExactSynonym "LQT6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110648"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110649 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110649"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Timothy syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_0110650 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10435"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:611818"^^xsd:string ; oboInOwl:hasExactSynonym "LQT9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110650"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110651 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10436"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:611819"^^xsd:string ; oboInOwl:hasExactSynonym "LQT10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110651"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110652 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10437"^^xsd:string, "ICD10CM:I45.8"^^xsd:string, "OMIM:611820"^^xsd:string ; oboInOwl:hasExactSynonym "LQT11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110652"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110653 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:612955"^^xsd:string ; oboInOwl:hasExactSynonym "LQT12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110653"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110654 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:613485"^^xsd:string ; oboInOwl:hasExactSynonym "LQT13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110654"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110655 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:616247"^^xsd:string ; oboInOwl:hasExactSynonym "LQT14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110655"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110656 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I45.8"^^xsd:string, "OMIM:616249"^^xsd:string ; oboInOwl:hasExactSynonym "LQT15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110656"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110657 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615120"^^xsd:string ; oboInOwl:hasExactSynonym "CMS8"@en, "congenital myasthenic syndrome 8 with pre- and postsynaptic defects"@en, "congenital myasthenic syndrome due to agrin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110657"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110658 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616227"^^xsd:string ; oboInOwl:hasExactSynonym "CMS15"@en, "congenital myasthenic syndrome 15 without tubular aggregates"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110658"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110659 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616040"^^xsd:string ; oboInOwl:hasExactSynonym "CMS7"@en, "congenital myasthenic syndrome 7 presynaptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110659"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110660 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610542"^^xsd:string ; oboInOwl:hasExactSynonym "CMS12"@en, "congenital myasthenia 12 with tubular aggregates"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110660"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110661 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617143"^^xsd:string ; oboInOwl:hasExactSynonym "CMS20"@en, "congenital myasthenic syndrome 20 presynaptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110661"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110662 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608930"^^xsd:string ; oboInOwl:hasExactSynonym "CMS1B"@en, "congenital myasthenic syndrome 1B, fast-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110662"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110663 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601462"^^xsd:string ; oboInOwl:hasExactSynonym "CMS IIa"@en, "CMS1A"@en, "congenital myasthenic syndrome 1A, slow-channel"@en, "congenital myasthenic syndrome type IIa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110663"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110664 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616323"^^xsd:string ; oboInOwl:hasExactSynonym "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110664"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 3C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110665 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616322"^^xsd:string ; oboInOwl:hasExactSynonym "CMS3B"@en, "congenital myasthenic syndrome 3B, fast-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110665"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 3B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110666 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616321"^^xsd:string ; oboInOwl:hasExactSynonym "CMS3A"@en, "congenital myasthenic syndrome 3A, slow-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110666"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110667 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603034"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ic"@en, "CMS5"@en, "EAD"@en, "Engel congenital myasthenic syndrome"@en, "congenital myasthenic syndrome Engel type"@en, "congenital myasthenic syndrome type Ic"@en, "end plate acetylcholinesterase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110667"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110668 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254300"^^xsd:string ; oboInOwl:hasExactSynonym "CMS10"@en, "LGM"@en, "familial limb-girdle myasthenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110668"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000222 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110669 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616228"^^xsd:string ; oboInOwl:hasExactSynonym "CMS14"@en, "CMSTA3"@en, "congenital myasthenic syndrome 14, with tubular aggregates"@en, "congenital myasthenic syndrome with tubular aggregates 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110669"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110670 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616325"^^xsd:string ; oboInOwl:hasExactSynonym "CMS9"@en, "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110670"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110671 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254210"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ia2"@en, "CMS1A2"@en, "CMS6"@en, "CMSEA"@en, "FIM"@en, "FIMG2"@en, "congenital myasthenic syndrome 6, presynaptic"@en, "congenital myasthenic syndrome type Ia2"@en, "congenital presynaptic myasthenic syndrome associated with episodic apnea"@en, "familial infantile myasthenia"@en, "familial infantile myasthenia gravis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110671"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110672 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617239"^^xsd:string ; oboInOwl:hasExactSynonym "CMS21"@en, "congenital myasthenic syndrome 21, presynaptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110672"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110673 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616720"^^xsd:string ; oboInOwl:hasExactSynonym "CMS19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110673"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110674 obo:IAO_0000115 "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616304"^^xsd:string ; oboInOwl:hasExactSynonym "CMS17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110674"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110675 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616326"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ie"@en, "CMS11"@en, "CMS1E"@en, "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency"@en, "congenital myasthenic syndrome 1e"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110675"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110676 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614750"^^xsd:string ; oboInOwl:hasExactSynonym "CMS13"@en, "CMSTA2"@en, "congenital myasthenic syndrome 13 with tubular aggregates"@en, "congenital myasthenic syndrome with tubular aggregates 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110676"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110677 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616324"^^xsd:string ; oboInOwl:hasExactSynonym "CMS4B"@en, "congenital myasthenic syndrome 4B fast-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110677"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110678 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605809"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Ia1"@en, "CMS1A1"@en, "CMS4A"@en, "congenital myasthenic syndrome 4A slow-channel"@en, "congenital myasthenic syndrometype Ia1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110678"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110679 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608931"^^xsd:string ; oboInOwl:hasExactSynonym "CMS Id"@en, "CMS1D"@en, "CMS4C"@en, "FIM1"@en, "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency"@en, "congenital myasthenic syndrome type Id"@en, "familial infantile myasthenia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110679"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 4C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110680 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616314"^^xsd:string ; oboInOwl:hasExactSynonym "CMS2C"@en, "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110680"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110681 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616313"^^xsd:string ; oboInOwl:hasExactSynonym "CMS2A"@en, "congenital myasthenic syndrome 2A slow-channel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110681"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110682 obo:IAO_0000115 "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614198"^^xsd:string ; oboInOwl:hasExactSynonym "CMS16"@en, "congenital myasthenic syndrome acetazolamide-responsive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110682"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110683 obo:IAO_0000115 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616330"^^xsd:string ; oboInOwl:hasExactSynonym "CMS18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110683"^^xsd:string ; a owl:Class ; rdfs:label "congenital myasthenic syndrome 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3635, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110698 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605389"^^xsd:string ; oboInOwl:hasExactSynonym "Hhs"@en, "Hts"@en, "Hypt1"@en, "hereditary generalized hypotrichosis simplex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110698"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110699 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146520"^^xsd:string ; oboInOwl:hasExactSynonym "Htss1"@en, "Hypt2"@en, "Spanish type hypotrichosis"@en, "hypotrichosis simplex of the scalp 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110699"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110700 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT74 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613981"^^xsd:string ; oboInOwl:hasExactSynonym "Htss2"@en, "Hypt3"@en, "hypotrichosis simplex of the scalp 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110700"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110701 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146550"^^xsd:string ; oboInOwl:hasExactSynonym "Hypotrichosis, Marie Unna Type, 1"@en, "Hypt4"@en, "Marie Unna Hereditary Hypotrichosis 1"@en, "Muhh1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110701"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110702 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612841"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt5"@en, "Marie Unna Hereditary Hypotrichosis 2"@en, "Muhh2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110702"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110703 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607903"^^xsd:string ; oboInOwl:hasExactSynonym "Hypotrichosis, Localized, Autosomal Recessive 1"@en, "Hypt6"@en, "Lah1"@en, "Monilethrix-like hypotrichosis"@en, "autosomal recessive localized hypotrichosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110703"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110704 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604379"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt7"@en, "Lah2"@en, "hypotrichosis, localized, autosomal recessive 2"@en, "total Mari type hypotrichosis,"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110704"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110705 obo:IAO_0000115 "A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:278150"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt8"@en, "Lah3"@en, "hypotrichosis, localized, autosomal recessive 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110705"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110706 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614237"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110706"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110707 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614238"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110707"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110708 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of SNRPE on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615059"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110708"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110709 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of RPL21 on chromosome 13q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615885"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110709"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110710 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615896"^^xsd:string ; oboInOwl:hasExactSynonym "Hypt13"@en, "hypotrichosis with woolly hair"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110710"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110711 obo:IAO_0000115 "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3066"^^xsd:string, "OMIM:601553"^^xsd:string ; oboInOwl:hasExactSynonym "Hjmd"@en, "hypotrichosis with cone-rod dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110711"^^xsd:string ; a owl:Class ; rdfs:label "congenital hypotrichosis with juvenile macular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_4535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110712 obo:IAO_0000115 "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258100"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBO1"@en, "congenital stationary night blindness Oguchi type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110712"^^xsd:string ; a owl:Class ; rdfs:label "Oguchi disease-1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; owl:disjointWith obo:DOID_0110713 . obo:DOID_0110713 obo:IAO_0000115 "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613411"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBO2"@en, "congenital stationary night blindness Oguchi type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110713"^^xsd:string ; a owl:Class ; rdfs:label "Oguchi disease-2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110714 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616389"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1G"@en, "congenital stationary night blindness type 1G"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110714"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110715 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610444"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBAD3"@en, "Nougaret type congenital stationary night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110715"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness autosomal dominant 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110716 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:600118"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 1"@en, "WARBM1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110716"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110717 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:614225"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 2"@en, "WARBM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110717"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110718 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:614222"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 3"@en, "WARBM3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110718"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110719 obo:IAO_0000115 "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "OMIM:615663"^^xsd:string ; oboInOwl:hasExactSynonym "Micro Syndrome 4"@en, "WARBM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110719"^^xsd:string ; a owl:Class ; rdfs:label "Warburg micro syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060237 . obo:DOID_0110720 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:162350"^^xsd:string, "ORDO:228343"^^xsd:string ; oboInOwl:hasExactSynonym "CLN4B disease"@en, "autosomal dominant neuronal ceroid lipofuscinosis 4B"@en, "neuronal ceroid lipofuscinosis 4 Parry type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110720"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110721 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34."^^xsd:string ; oboInOwl:hasDbXref "GARD:1219"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:256730"^^xsd:string, "ORDO:228329"^^xsd:string ; oboInOwl:hasExactSynonym "CLN1"@en, "neuronal ceroid lipofuscinosis 1 variable age of onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110721"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110722 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28."^^xsd:string ; oboInOwl:hasDbXref "GARD:1220"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:610951"^^xsd:string, "ORDO:228366"^^xsd:string ; oboInOwl:hasExactSynonym "CLN7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110722"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110723 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:600143"^^xsd:string, "ORDO:228354"^^xsd:string ; oboInOwl:hasExactSynonym "CLN8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110723"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110724 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23."^^xsd:string ; oboInOwl:hasDbXref "GARD:2163"^^xsd:string, "GARD:4010"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:610003"^^xsd:string, "ORDO:1947"^^xsd:string ; oboInOwl:hasExactSynonym "EPMR"@en, "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant"@en, "progressive epilepsy with mental retardation, northern epilepsy"@en, "progressive epilepsy-intellectual disability syndrome, Finnish type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110724"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 8 northern epilepsy variant"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110725 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:1218"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:610127"^^xsd:string, "ORDO:228337"^^xsd:string ; oboInOwl:hasExactSynonym "CLN10"@en, "Cathepsin D deficiency"@en, "neuronal ceroid lipofuscinosis cathepsin D-deficient"@en, "neuronal ceroid lipofuscinosis due to cathepsin D deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110725"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110726 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:3045"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:204500"^^xsd:string, "ORDO:228349"^^xsd:string ; oboInOwl:hasExactSynonym "CLN2"@en, "neuronal ceroid lipofuscinosis 2 variable age at onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110726"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110727 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:615362"^^xsd:string, "ORDO:352709"^^xsd:string ; oboInOwl:hasExactSynonym "CLN13"@en, "neuronal ceroid lipofuscinosis 13 Kufs type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110727"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110728 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:1223"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:256731"^^xsd:string, "ORDO:228360"^^xsd:string ; oboInOwl:hasExactSynonym "CLN5"@en, "neuronal ceroid lipofuscinosis 5 variable age of onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110728"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110729 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23."^^xsd:string ; oboInOwl:hasDbXref "GARD:1224"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:601780"^^xsd:string, "ORDO:228363"^^xsd:string ; oboInOwl:hasExactSynonym "CLN6"@en, "neuronal ceroid lipofuscinosis 6 variable age of onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110729"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110730 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:204300"^^xsd:string, "ORDO:228340"^^xsd:string ; oboInOwl:hasExactSynonym "CLN4A"@en, "autosomal recessive neuronal ceroid lipofuscinosis 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110730"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110731 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050756"^^xsd:string ; oboInOwl:hasDbXref "GARD:5897"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:204200"^^xsd:string, "ORDO:228346"^^xsd:string ; oboInOwl:hasExactSynonym "Batten disease"@en, "CLN3"@en, "juvenile neuronal ceroid lipofuscinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110731"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110732 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.4"^^xsd:string, "OMIM:614706"^^xsd:string, "ORDO:314629"^^xsd:string ; oboInOwl:hasExactSynonym "CLN11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110732"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_14503, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110733 obo:IAO_0000115 "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures."^^xsd:string ; oboInOwl:hasDbXref "GARD:6618"^^xsd:string, "ICD10CM:E75.4"^^xsd:string, "OMIM:609055"^^xsd:string, "ORDO:228357"^^xsd:string ; oboInOwl:hasExactSynonym "CLN9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110733"^^xsd:string ; a owl:Class ; rdfs:label "neuronal ceroid lipofuscinosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_14503 . obo:DOID_0110734 obo:IAO_0000115 "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia."^^xsd:string ; oboInOwl:hasDbXref "GARD:11899"^^xsd:string, "MESH:C538421"^^xsd:string, "OMIM:PS234200"^^xsd:string, "ORDO:385"^^xsd:string, "UMLS_CUI:C2931845"^^xsd:string ; oboInOwl:hasExactSynonym "NBIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110734"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0110735 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life."^^xsd:string ; oboInOwl:hasDbXref "GARD:2751"^^xsd:string, "ICD10CM:G23.0"^^xsd:string, "OMIM:256600"^^xsd:string ; oboInOwl:hasExactSynonym "INAD1"@en, "Infantile Neuroaxonal Dystrophy 1"@en, "NBIA2a"@en, "Neurodegeneration, Pla2g6-Associated"@en, "Seitelberger Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110735"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 2a"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110736 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:610217"^^xsd:string ; oboInOwl:hasExactSynonym "NBIA2b"@en, "Neuroaxonal Dystrophy, Atypical"@en, "Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110736"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 2b"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110737 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "MESH:C548080"^^xsd:string, "OMIM:606159"^^xsd:string, "ORDO:157846"^^xsd:string, "SNOMEDCT_US_2021_03_01:699299001"^^xsd:string, "UMLS_CUI:C1853578"^^xsd:string ; oboInOwl:hasExactSynonym "Adult basal ganglia disease"@en, "Ferritin-related neurodegeneration"@en, "Hereditary ferritinopathy"@en, "NBIA3"@en, "Neuroferritinopathy"@en, "Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110737"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110738 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:614298"^^xsd:string, "ORDO:289560"^^xsd:string ; oboInOwl:hasExactSynonym "MPAN"@en, "Mitochondrial Protein-Associated Neurodegeneration"@en, "NBIA due to C19orf12 mutation"@en, "NBIA4"@en, "Neurodegeneration with brain iron accumulation due to C19orf12 mutation"@en, "Neurodegeneration with brain iron accumulation type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110738"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110739 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:300894"^^xsd:string, "ORDO:329284"^^xsd:string ; oboInOwl:hasExactSynonym "BPAN"@en, "Beta-Propeller Protein-Associated Neurodegeneration"@en, "NBIA5"@en, "SENDA"@en, "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110739"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0110740 obo:IAO_0000115 "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G23.0"^^xsd:string, "OMIM:615643"^^xsd:string, "ORDO:397725"^^xsd:string ; oboInOwl:hasExactSynonym "CoPAN"@en, "NBIA6"@en, "Neurodegeneration with brain iron accumulation due to COASY mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110740"^^xsd:string ; a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0110734, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110741 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:125852"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM2"@en, "Insulin-Dependent Diabetes Mellitus 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110741"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, obo:DOID_9744, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110742 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600318"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM3"@en, "Insulin-Dependent Diabetes Mellitus 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110742"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 3"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110743 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600319"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM4"@en, "Insulin-Dependent Diabetes Mellitus 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110743"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 4"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110744 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600320"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM5"@en, "Insulin-Dependent Diabetes Mellitus 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110744"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 5"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110745 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601941"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM6"@en, "Insulin-Dependent Diabetes Mellitus 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110745"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 6"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110746 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600321"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM7"@en, "Insulin-Dependent Diabetes Mellitus 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110746"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 7"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110747 obo:IAO_0000115 "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:600883"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM8"@en, "Insulin-Dependent Diabetes Mellitus 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110747"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 8"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110748 oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM9"@en, "Insulin-Dependent Diabetes Mellitus 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110748"^^xsd:string ; a owl:Class ; rdfs:comment "not in OMIM, missed that I shouldn't have added this one - Sue"^^xsd:string ; rdfs:label "obsolete type 1 diabetes mellitus 9"^^xsd:string ; owl:deprecated true . obo:DOID_0110749 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601942"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM10"@en, "Insulin-Dependent Diabetes Mellitus 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110749"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 10"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110750 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601208"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM11"@en, "Insulin-Dependent Diabetes Mellitus 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110750"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 11"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110751 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601388"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM12"@en, "Insulin-Dependent Diabetes Mellitus 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110751"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 12"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110752 obo:IAO_0000115 "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601318"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM13"@en, "Insulin-Dependent Diabetes Mellitus 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110752"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 13"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110753 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:601666"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM15"@en, "Insulin-Dependent Diabetes Mellitus 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110753"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 15"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110754 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:603266"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM17"@en, "Insulin-Dependent Diabetes Mellitus 17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110754"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 17"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110755 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:605598"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM18"@en, "Insulin-Dependent Diabetes Mellitus 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110755"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 18"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110756 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:610155"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM19"@en, "Insulin-Dependent Diabetes Mellitus 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110756"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 19"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110757 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612520"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM20"@en, "Insulin-Dependent Diabetes Mellitus 20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110757"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 20"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110758 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612521"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM21"@en, "Insulin-Dependent Diabetes Mellitus 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110758"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 21"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110759 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612522"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM22"@en, "Insulin-Dependent Diabetes Mellitus 22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110759"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 22"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110760 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:612622"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM23"@en, "Insulin-Dependent Diabetes Mellitus 23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110760"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 23"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110761 obo:IAO_0000115 "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E10"^^xsd:string, "OMIM:613006"^^xsd:string ; oboInOwl:hasExactSynonym "IDDM24"@en, "Insulin-Dependent Diabetes Mellitus 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110761"^^xsd:string ; a owl:Class ; rdfs:label "type 1 diabetes mellitus 24"^^xsd:string ; rdfs:subClassOf obo:DOID_9744 . obo:DOID_0110762 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110762"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary spastic paraplegia 1"^^xsd:string ; owl:deprecated true . obo:DOID_0110763 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9590"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:604187"^^xsd:string, "ORDO:100991"^^xsd:string ; oboInOwl:hasExactSynonym "SPG10"@en, "autosomal dominant spastic paraplegia 10"@en, "autosomal dominant spastic paraplegia type 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110763"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110764 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4919"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:604360"^^xsd:string, "ORDO:2822"^^xsd:string ; oboInOwl:hasExactSynonym "HSP-TCC"@en, "Nakamura-Osame syndrome"@en, "SPG11"@en, "autosomal recessive spastic paraplegia 11"@en, "autosomal recessive spastic paraplegia complicated with thin corpus callosum"@en, "autosomal recessive spastic paraplegia type 11"@en, "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum"@en, "spastic paraplegia-intellectual disability-thin corpus callosum syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110764"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110765 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9586"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:604805"^^xsd:string, "ORDO:100993"^^xsd:string ; oboInOwl:hasExactSynonym "SPG12"@en, "autosomal dominant spastic paraplegia 12"@en, "autosomal dominant spastic paraplegia type 12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110765"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110766 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:9616"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:605280"^^xsd:string, "ORDO:100994"^^xsd:string ; oboInOwl:hasExactSynonym "SPG13"@en, "autosomal dominant spastic paraplegia 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110766"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110767 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28."^^xsd:string ; oboInOwl:hasDbXref "GARD:9589"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:605229"^^xsd:string, "ORDO:100995"^^xsd:string ; oboInOwl:hasExactSynonym "SPG14"@en, "autosomal recessive spastic paraplegia 14"@en, "autosomal recessive spastic paraplegia type 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110767"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110768 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9581"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270700"^^xsd:string, "ORDO:100996"^^xsd:string ; oboInOwl:hasExactSynonym "Kjellin syndrome"@en, "SPG15"@en, "autosomal recessive spastic paraplegia 15"@en, "autosomal recessive spastic paraplegia type 15"@en, "hereditary spastic paraparesis type 15"@en, "spastic paraplegia and retinal degeneration"@en, "spastic paraplegia-retinal degeneration syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110768"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110769 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9585"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:300266"^^xsd:string, "ORDO:100997"^^xsd:string ; oboInOwl:hasExactSynonym "SPG16"@en, "X-linked spastic paraplegia 16"@en, "X-linked spastic paraplegia type 16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110769"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110770 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4219"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270685"^^xsd:string, "ORDO:100998"^^xsd:string ; oboInOwl:hasExactSynonym "SPG17"@en, "Silver spastic paraplegia syndrome"@en, "Silver syndrome"@en, "autosomal dominant spastic paraplegia 17"@en, "autosomal dominant spastic paraplegia type 17"@en, "dHMN5B"@en, "distal hereditary motor neuropathy type 5B"@en, "spastic paraplegia with amyotrophy of hands and feet"@en, "spastic paraplegia-amyotrophy of hands and feet"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110770"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110771 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:4922"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:611225"^^xsd:string, "ORDO:209951"^^xsd:string ; oboInOwl:hasExactSynonym "IDMDC"@en, "SPG18"@en, "autosomal recessive spastic paraplegia 18"@en, "autosomal recessive spastic paraplegia type 18"@en, "intellectual disability, motor dysfunction and joint contractures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110771"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110772 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q."^^xsd:string ; oboInOwl:hasDbXref "GARD:9588"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:607152"^^xsd:string, "ORDO:100999"^^xsd:string ; oboInOwl:hasExactSynonym "SPG19"@en, "autosomal dominant spastic paraplegia 19"@en, "autosomal dominant spastic paraplegia type 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110772"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110773 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4923"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:312920"^^xsd:string, "ORDO:99015"^^xsd:string ; oboInOwl:hasExactSynonym "SPG2"@en, "X-linked spastic paraplegia 2"@en, "spastic paraplegia type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110773"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110774 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:336"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270750"^^xsd:string, "ORDO:101003"^^xsd:string ; oboInOwl:hasExactSynonym "Lison syndrome"@en, "SPG23"@en, "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome"@en, "spastic paraplegia 23"@en, "spastic paraplegia with pigmentary abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110774"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110775 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:9296"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:607584"^^xsd:string, "ORDO:101004"^^xsd:string ; oboInOwl:hasExactSynonym "SPG24"@en, "autosomal recessive spastic paraplegia 24"@en, "autosomal recessive spastic paraplegia type 24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110775"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110776 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9582"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:608220"^^xsd:string, "ORDO:101005"^^xsd:string ; oboInOwl:hasExactSynonym "SPG25"@en, "autosomal recessive spastic paraplegia 25"@en, "autosomal recessive spastic paraplegia type 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110776"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110777 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9587"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:609195"^^xsd:string, "ORDO:101006"^^xsd:string ; oboInOwl:hasExactSynonym "GM2 synthase deficiency"@en, "SPG26"@en, "autosomal recessive spastic paraplegia 26"@en, "autosomal recessive spastic paraplegia type 26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110777"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110778 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:609041"^^xsd:string, "ORDO:101007"^^xsd:string ; oboInOwl:hasExactSynonym "SPG27"@en, "autosomal recessive spastic paraplegia 27"@en, "autosomal recessive spastic paraplegia type 27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110778"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110779 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:609340"^^xsd:string, "ORDO:101008"^^xsd:string ; oboInOwl:hasExactSynonym "SPG28"@en, "autosomal recessive spastic paraplegia 28"@en, "autosomal recessive spastic paraplegia type 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110779"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110780 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9729"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:609727"^^xsd:string, "ORDO:101009"^^xsd:string ; oboInOwl:hasExactSynonym "SPG29"@en, "autosomal dominant spastic paraplegia 29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110780"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110781 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:610357"^^xsd:string, "ORDO:101010"^^xsd:string ; oboInOwl:hasExactSynonym "SPG30"@en, "autosomal recessive spastic paraplegia 30"@en, "autosomal spastic paraplegia type 30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110781"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110782 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10817"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:610250"^^xsd:string, "ORDO:101011"^^xsd:string ; oboInOwl:hasExactSynonym "SPG31"@en, "autosomal dominant spastic paraplegia 31"@en, "autosomal dominant spastic paraplegia type 31"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110782"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110783 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:12749"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:611252"^^xsd:string, "ORDO:171622"^^xsd:string ; oboInOwl:hasExactSynonym "SPG32"@en, "autosomal recessive spastic paraplegia 32"@en, "autosomal recessive spastic paraplegia type 32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110783"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110784 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610244"^^xsd:string ; oboInOwl:hasExactSynonym "SPG33"@en, "autosomal dominant spastic paraplegia 33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110784"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110785 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:300750"^^xsd:string, "ORDO:171607"^^xsd:string ; oboInOwl:hasExactSynonym "SPG34"@en, "X-linked spastic paraplegia 34"@en, "X-linked spastic paraplegia type 34"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110785"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110786 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:612319"^^xsd:string, "ORDO:171629"^^xsd:string ; oboInOwl:hasExactSynonym "FAHN"@en, "SPG35"@en, "autosomal recessive spastic paraplegia 35"@en, "autosomal recessive spastic paraplegia type 35"@en, "fatty acid hydroxylase-associated neurodegeneration"@en, "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110786"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110787 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613096"^^xsd:string, "ORDO:320365"^^xsd:string ; oboInOwl:hasExactSynonym "SPG36"@en, "autosomal dominant spastic paraplegia 36"@en, "autosomal dominant spastic paraplegia type 36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110787"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110788 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:611945"^^xsd:string, "ORDO:171612"^^xsd:string ; oboInOwl:hasExactSynonym "SPG37"@en, "autosomal dominant spastic paraplegia 37"@en, "autosomal dominant spastic paraplegia type 37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110788"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110789 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:612335"^^xsd:string, "ORDO:171617"^^xsd:string ; oboInOwl:hasExactSynonym "SPG38"@en, "autosomal dominant spastic paraplegia 38"@en, "autosomal dominant spastic paraplegia type 38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110789"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110790 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4924"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:612020"^^xsd:string, "ORDO:139480"^^xsd:string ; oboInOwl:hasExactSynonym "NTE-related motor neuron disorder"@en, "NTEMND"@en, "SPG39"@en, "autosomal recessive spastic paraplegia 39"@en, "autosomal recessive spastic paraplegia type 39"@en, "spastic paraplegia due to NTE mutation"@en, "spastic paraplegia due to neuropathy target esterase mutation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110790"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110791 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5041"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:182600"^^xsd:string, "ORDO:100984"^^xsd:string ; oboInOwl:hasExactSynonym "FSP1"@en, "SPG3A"@en, "autosomal dominant familial spastic paraplegia 1"@en, "autosomal dominant spastic paraplegia 3"@en, "autosomal dominant spastic paraplegia type 3"@en, "strumpell disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110791"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110792 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:182601"^^xsd:string, "ORDO:100985"^^xsd:string ; oboInOwl:hasExactSynonym "SPG4"@en, "autosomal dominant spastic paraplegia 4"@en, "autosomal dominant spastic paraplegia type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110792"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110793 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613364"^^xsd:string, "ORDO:320355"^^xsd:string ; oboInOwl:hasExactSynonym "SPG41"@en, "autosomal dominant spastic paraplegia 41"@en, "autosomal dominant spastic paraplegia type 41"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110793"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110794 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:612539"^^xsd:string, "ORDO:171863"^^xsd:string ; oboInOwl:hasExactSynonym "SPG42"@en, "autosomal dominant spastic paraplegia 42"@en, "autosomal dominant spastic paraplegia type 42"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110794"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110795 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615043"^^xsd:string, "ORDO:320370"^^xsd:string ; oboInOwl:hasExactSynonym "SPG43"@en, "autosomal recessive spastic paraplegia 43"@en, "autosomal recessive spastic paraplegia type 43"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110795"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110796 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613206"^^xsd:string, "ORDO:320401"^^xsd:string ; oboInOwl:hasExactSynonym "SPG44"@en, "autosomal recessive spastic paraplegia 44"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110796"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110797 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613162"^^xsd:string, "ORDO:320396"^^xsd:string ; oboInOwl:hasExactSynonym "SPG45"@en, "SPG65"@en, "autosomal recessive spastic paraplegia 45"@en, "autosomal recessive spastic paraplegia type 45"@en, "autosomal recessive spastic paraplegia type 65"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110797"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110798 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:614409"^^xsd:string, "ORDO:320391"^^xsd:string ; oboInOwl:hasExactSynonym "SPG46"@en, "autosomal recessive spastic paraplegia 46"@en, "autosomal recessive spastic paraplegia type 46"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110798"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110799 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614066"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "CPSQ5"@en, "SPG47"@en, "autosomal recessive spastic paraplegia 47"@en, "spastic quadriplegic cerebral palsy 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110799"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110800 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:613647"^^xsd:string, "ORDO:306511"^^xsd:string ; oboInOwl:hasExactSynonym "SPG48"@en, "autosomal recessive spastic paraplegia 48"@en, "autosomal recessive spastic paraplegia type 48"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110800"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110801 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615031"^^xsd:string, "ORDO:320385"^^xsd:string ; oboInOwl:hasExactSynonym "SPG49"@en, "autosomal recessive spastic paraplegia 49"@en, "autosomal recessive spastic paraplegia type 49"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110801"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110802 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612936"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "AP-4 deficiency syndrome"^^xsd:string, "AP-4-Associated Hereditary Spastic Paraplegia"^^xsd:string, "CPSQ3"@en, "SPG50"@en, "adaptor protein complex 4 deficiency"^^xsd:string, "autosomal recessive spastic paraplegia 50"@en, "spastic quadriplegic cerebral palsy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110802"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110803 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10999"^^xsd:string, "OMIM:613744"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "CPSQ4"@en, "SPG51"@en, "autosomal dominant spastic paraplegia 51"@en, "spastic quadriplegic cerebral palsy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110803"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110804 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614067"^^xsd:string, "ORDO:280763"^^xsd:string ; oboInOwl:hasExactSynonym "CPSQ6"@en, "SPG52"@en, "autosomal recessive spastic paraplegia 52"@en, "spastic quadriplegic cerebral palsy 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110804"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110805 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:614898"^^xsd:string, "ORDO:319199"^^xsd:string ; oboInOwl:hasExactSynonym "SPG53"@en, "autosomal recessive spastic paraplegia 53"@en, "autosomal recessive spastic paraplegia type 53"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110805"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110806 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615033"^^xsd:string, "ORDO:320380"^^xsd:string ; oboInOwl:hasExactSynonym "SPG54"@en, "autosomal recessive spastic paraplegia 54"@en, "autosomal recessive spastic paraplegia type 54"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110806"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110807 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615035"^^xsd:string, "ORDO:320375"^^xsd:string ; oboInOwl:hasExactSynonym "SPG55"@en, "autosomal recessive spastic paraplegia 55"@en, "autosomal recessive spastic paraplegia type 55"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110807"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 55"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110808 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615030"^^xsd:string, "ORDO:320411"^^xsd:string ; oboInOwl:hasExactSynonym "SPG56"@en, "autosomal recessive spastic paraplegia 56"@en, "autosomal recessive spastic paraplegia type 56"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110808"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110809 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615658"^^xsd:string, "ORDO:431329"^^xsd:string ; oboInOwl:hasExactSynonym "SPG57"@en, "autosomal recessive spastic paraplegia 57"@en, "autosomal recessive spastic paraplegia type 57"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110809"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110810 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4926"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:270800"^^xsd:string, "ORDO:100986"^^xsd:string ; oboInOwl:hasExactSynonym "SPG5A"@en, "autosomal recessive spastic paraplegia 5A"@en, "autosomal recessive spastic paraplegia type 5A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110810"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 5A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110811 obo:IAO_0000115 "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:600363"^^xsd:string, "ORDO:100988"^^xsd:string ; oboInOwl:hasExactSynonym "FSP3"@en, "SPG6"@en, "autosomal dominant familial spastic paraplegia type 3"@en, "autosomal dominant spastic paraplegia 6"@en, "autosomal dominant spastic paraplegia type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110811"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110812 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615685"^^xsd:string, "ORDO:401780"^^xsd:string ; oboInOwl:hasExactSynonym "SPG61"@en, "autosomal recessive spastic paraplegia 61"@en, "autosomal recessive spastic paraplegia type 61"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110812"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110813 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615681"^^xsd:string, "ORDO:401785"^^xsd:string ; oboInOwl:hasExactSynonym "SPG62"@en, "autosomal recessive spastic paraplegia 62"@en, "autosomal recessive spastic paraplegia type 62"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110813"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110814 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615686"^^xsd:string, "ORDO:401805"^^xsd:string ; oboInOwl:hasExactSynonym "SPG63"@en, "autosomal recessive spastic paraplegia 63"@en, "spastic paraplegia 63"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110814"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110815 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615683"^^xsd:string, "ORDO:401810"^^xsd:string ; oboInOwl:hasExactSynonym "SPG64"@en, "autosomal recessive spastic paraplegia 64"@en, "autosomal recessive spastic paraplegia type 64"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110815"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 64"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110816 obo:IAO_0000115 "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:607259"^^xsd:string, "ORDO:99013"^^xsd:string ; oboInOwl:hasExactSynonym "SPG7"@en, "autosomal recessive spastic paraplegia 7"@en, "spastic paraplegia type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110816"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110817 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:615625"^^xsd:string, "ORDO:401849"^^xsd:string ; oboInOwl:hasExactSynonym "SPG72"@en, "autosomal spastic paraplegia type 72"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110817"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110818 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:616282"^^xsd:string, "ORDO:444099"^^xsd:string ; oboInOwl:hasExactSynonym "SPG73"@en, "autosomal dominant spastic paraplegia 73"@en, "autosomal dominant spastic paraplegia type 73"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110818"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110819 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616451"^^xsd:string, "ORDO:468661"^^xsd:string ; oboInOwl:hasExactSynonym "SPG74"@en, "autosomal recessive spastic paraplegia 74"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110819"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110820 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:616680"^^xsd:string, "ORDO:459056"^^xsd:string ; oboInOwl:hasExactSynonym "SPG75"@en, "autosomal recessive spastic paraplegia 75"@en, "autosomal recessive spastic paraplegia type 75"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110820"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110821 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616907"^^xsd:string ; oboInOwl:hasExactSynonym "SPG76"@en, "autosomal recessive spastic paraplegia 76"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110821"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110822 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:617046"^^xsd:string, "ORDO:466722"^^xsd:string ; oboInOwl:hasExactSynonym "SPG77"@en, "autosomal recessive spastic paraplegia 77"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110822"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110823 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24."^^xsd:string ; oboInOwl:hasDbXref "GARD:9591"^^xsd:string, "ICD10CM:G11.4"^^xsd:string, "OMIM:603563"^^xsd:string, "ORDO:100989"^^xsd:string ; oboInOwl:hasExactSynonym "SPG8"@en, "autosomal dominant spastic paraplegia 8"@en, "autosomal dominant spastic paraplegia type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110823"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110824 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:601162"^^xsd:string, "ORDO:100990"^^xsd:string, "ORDO:447753"^^xsd:string ; oboInOwl:hasExactSynonym "AD-SPG9A"@en, "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome"@en, "SPG9A"@en, "autosomal dominant complex spastic paraplegia type 9A"@en, "autosomal dominant spastic paraplegia 9A"@en, "cataracts with motor neuronopathy, short stature and skeletal abnormalities"@en, "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux"@en, "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110824"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 9A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110825 obo:IAO_0000115 "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G11.4"^^xsd:string, "OMIM:616586"^^xsd:string, "ORDO:447760"^^xsd:string ; oboInOwl:hasExactSynonym "SPG9B"@en, "autosomal recessive complex spastic paraplegia type 9B"@en, "autosomal recessive spastic paraplegia 9B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110825"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spastic paraplegia 9B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2476, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110826 obo:IAO_0000115 "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:276900"^^xsd:string, "ORDO:231169"^^xsd:string ; oboInOwl:hasExactSynonym "US1"@en, "USH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110826"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439 . obo:DOID_0110827 obo:IAO_0000115 "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa."^^xsd:string ; oboInOwl:hasDbXref "MESH:D052245"^^xsd:string, "NCI:C126328"^^xsd:string, "ORDO:231178"^^xsd:string, "SNOMEDCT_US_2020_03_01:232058008"^^xsd:string ; oboInOwl:hasExactSynonym "USH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110827"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Usher syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439 . obo:DOID_0110828 obo:IAO_0000115 "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life."^^xsd:string ; oboInOwl:hasDbXref "GARD:5442"^^xsd:string, "MESH:D052245"^^xsd:string, "NCI:C126329"^^xsd:string, "ORDO:231183"^^xsd:string ; oboInOwl:hasExactSynonym "USH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110828"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Usher syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439 . obo:DOID_0110829 obo:IAO_0000115 "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome."^^xsd:string ; oboInOwl:hasDbXref "GARD:4684"^^xsd:string, "MESH:D052245"^^xsd:string, "NCI:C126329"^^xsd:string, "OMIM:500004"^^xsd:string, "ORDO:231183"^^xsd:string, "SNOMEDCT_US_2021_03_01:1010610007"^^xsd:string, "UMLS_CUI:C1568248"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110829"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb."^^xsd:string ; rdfs:label "retinitis pigmentosa-deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050439, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110830 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:276904"^^xsd:string ; oboInOwl:hasExactSynonym "USH1C"@en, "Usher syndrome type I Acadian variety"@en, "Usher syndrome type IC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110830"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110831 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:601067"^^xsd:string ; oboInOwl:hasExactSynonym "USH1D"@en, "Usher syndrome type ID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110831"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0110832 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602083"^^xsd:string ; oboInOwl:hasExactSynonym "USH1F"@en, "Usher syndrome type IF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110832"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110833 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:602097"^^xsd:string ; oboInOwl:hasExactSynonym "USH1E"@en, "Usher syndrome type IE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110833"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110834 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:606943"^^xsd:string ; oboInOwl:hasExactSynonym "USH1G"@en, "Usher syndrome type IG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110834"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110835 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:612632"^^xsd:string ; oboInOwl:hasExactSynonym "USH1H"@en, "Usher syndrome type IH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110835"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826 . obo:DOID_0110836 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614869"^^xsd:string ; oboInOwl:hasExactSynonym "USH1J"@en, "Usher syndrome type IJ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110836"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1J"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110837 obo:IAO_0000115 "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614990"^^xsd:string ; oboInOwl:hasExactSynonym "USH1K"@en, "Usher syndrome type IK"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110837"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 1K"^^xsd:string ; rdfs:subClassOf obo:DOID_0110826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110838 obo:IAO_0000115 "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "GARD:5440"^^xsd:string, "ICD10CM:H35.5"^^xsd:string, "OMIM:276901"^^xsd:string ; oboInOwl:hasExactSynonym "USH2A"@en, "Usher syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110838"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0110827, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110839 obo:IAO_0000115 "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:605472"^^xsd:string ; oboInOwl:hasExactSynonym "USH2C"@en, "Usher syndrome type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110839"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110827, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110840 obo:IAO_0000115 "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:611383"^^xsd:string ; oboInOwl:hasExactSynonym "USH2D"@en, "Usher syndrome type IID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110840"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0110827, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110841 obo:IAO_0000115 "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:276902"^^xsd:string ; oboInOwl:hasExactSynonym "USH3A"@en, "Usher syndrome type IIIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110841"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 3A"^^xsd:string ; rdfs:subClassOf obo:DOID_0110828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] ; owl:disjointWith obo:DOID_0110842 . obo:DOID_0110842 obo:IAO_0000115 "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.5"^^xsd:string, "OMIM:614504"^^xsd:string ; oboInOwl:hasExactSynonym "USH3B"@en, "Usher syndrome type IIIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110842"^^xsd:string ; a owl:Class ; rdfs:label "Usher syndrome type 3B"^^xsd:string ; rdfs:subClassOf obo:DOID_0110828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110843 obo:IAO_0000115 "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278700"^^xsd:string ; oboInOwl:hasExactSynonym "XP group A"@en, "XP1"@en, "XPA"@en, "xeroderma pigmentosum 1"@en, "xeroderma pigmentosum complementation group A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110843"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110844 obo:IAO_0000115 "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278720"^^xsd:string ; oboInOwl:hasExactSynonym "XP group C"@en, "XP3"@en, "XPC"@en, "XPCC"@en, "xeroderma pigmentosum III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110844"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110845 obo:IAO_0000115 "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278730"^^xsd:string ; oboInOwl:hasExactSynonym "XP group D"@en, "XP group H"@en, "XP4"@en, "XP8"@en, "XPD"@en, "XPDC"@en, "XPH"@en, "xeroderma pigmentosum IV"@en, "xeroderma pigmentosum VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110845"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110846 obo:IAO_0000115 "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278740"^^xsd:string ; oboInOwl:hasExactSynonym "XP group E"@en, "XP5"@en, "XPE"@en, "xeroderma pigmentosum V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110846"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110847 obo:IAO_0000115 "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5630"^^xsd:string, "ICD10CM:Q82.1"^^xsd:string, "OMIM:278750"^^xsd:string ; oboInOwl:hasExactSynonym "XPV"@en, "photosensitivity with defective DNA synthesis"@en, "xeroderma pigmentosum with normal DNA repair rates"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110847"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum variant type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110848 obo:IAO_0000115 "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278760"^^xsd:string ; oboInOwl:hasExactSynonym "XP group F"@en, "XP6"@en, "XPF"@en, "xeroderma pigmentosum VI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110848"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110849 obo:IAO_0000115 "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:278780"^^xsd:string ; oboInOwl:hasExactSynonym "XP group G"@en, "XP7"@en, "XPG"@en, "xeroderma pigmentosum VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110849"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110850 obo:IAO_0000115 "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q82.1"^^xsd:string, "OMIM:610651"^^xsd:string ; oboInOwl:hasExactSynonym "XP group B"@en, "XPB"@en, "XPBC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110850"^^xsd:string ; a owl:Class ; rdfs:label "xeroderma pigmentosum group B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0110851 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:6049"^^xsd:string, "ICD10CM:Q77.3"^^xsd:string, "OMIM:215100"^^xsd:string, "ORDO:309789"^^xsd:string ; oboInOwl:hasExactSynonym "Pbd9"@en, "Peroxisome Biogenesis Disorder 9"@en, "Rcdp1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110851"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110852 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "OMIM:222765"^^xsd:string, "ORDO:309796"^^xsd:string ; oboInOwl:hasExactSynonym "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency"@en, "Dhapat Deficiency"@en, "Dihydroxyacetonephosphate Acyltransferase Deficiency"@en, "Glyceronephosphate O-Acyltransferase Deficiency"@en, "Gnpat Deficiency"@en, "Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency"@en, "Rcdp2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110852"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110853 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q77.3"^^xsd:string, "OMIM:600121"^^xsd:string, "ORDO:309803"^^xsd:string ; oboInOwl:hasExactSynonym "Agps Deficiency"@en, "Alkyldihydroxyacetonephosphate Synthase Deficiency"@en, "Alkylglycerone-Phosphate Synthase Deficiency"@en, "Rcdp3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110853"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110854 obo:IAO_0000115 "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616716"^^xsd:string, "ORDO:468717"^^xsd:string ; oboInOwl:hasExactSynonym "Rcdp5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110854"^^xsd:string ; a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_2580 . obo:DOID_0110855 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.50"^^xsd:string, "OMIM:122000"^^xsd:string ; oboInOwl:hasExactSynonym "Ched1"@en, "Corneal Endothelial Dystrophy 1, Autosomal Dominant"@en, "Maumenee Corneal Dystrophy"@en, "Ppcd1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110855"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110856 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.50"^^xsd:string, "OMIM:609140"^^xsd:string ; oboInOwl:hasExactSynonym "Ppcd2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110856"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110857 obo:IAO_0000115 "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.50"^^xsd:string, "OMIM:609141"^^xsd:string ; oboInOwl:hasExactSynonym "Ppcd3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110857"^^xsd:string ; a owl:Class ; rdfs:label "posterior polymorphous corneal dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0060457, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110858 obo:IAO_0000115 "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:173900"^^xsd:string ; oboInOwl:hasExactSynonym "Apkd1"@en, "Pkd1"@en, "Polycystic Kidney Disease, Adult, Type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110858"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_898 . obo:DOID_0110859 obo:IAO_0000115 "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613095"^^xsd:string ; oboInOwl:hasExactSynonym "Apkd2"@en, "Pkd2"@en, "Polycystic Kidney Disease, Adult, Type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110859"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_898 . obo:DOID_0110860 obo:IAO_0000115 "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600666"^^xsd:string ; oboInOwl:hasExactSynonym "Apkd3"@en, "Pkd3"@en, "Polycystic Kidney Disease, Adult, Type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110860"^^xsd:string ; a owl:Class ; rdfs:label "polycystic kidney disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_898 . obo:DOID_0110861 obo:IAO_0000115 "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion."^^xsd:string ; oboInOwl:hasDbXref "GARD:8378"^^xsd:string, "ICD10CM:Q61.1"^^xsd:string, "ICD9CM:753.14"^^xsd:string, "MESH:D017044"^^xsd:string, "NCI:C84579"^^xsd:string, "OMIM:263200"^^xsd:string, "ORDO:731"^^xsd:string, "SNOMEDCT_US_2021_03_01:28770003"^^xsd:string, "UMLS_CUI:C0085548"^^xsd:string ; oboInOwl:hasExactSynonym "Arpkd"@en, "Pkhd1"@en, "Polycystic Kidney Disease, Infantile, Type I"@en, "Polycystic Kidney and Hepatic Disease 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110861"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autosomal recessive polycystic kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080322, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110862 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610445"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBAD1"@en, "rhodopsin-related congenital stationary night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110862"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness autosomal dominant 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110863 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:163500"^^xsd:string ; oboInOwl:hasExactSynonym "CSNBAD2"@en, "Rambusch type congenital stationary night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110863"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness autosomal dominant 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110864 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615058"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1F"@en, "congenital stationary night blindness 1F autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110864"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110865 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:257270"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1B"@en, "autosomal recessive complete congenital stationary night blindness"@en, "congenital stationary night blindness 1B autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110865"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110866 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617024"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1H"@en, "congenital stationary night blindness type 1H"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110866"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1H"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110867 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613216"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1C"@en, "congenital stationary night blindness 1C autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110867"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110868 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613830"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1D"@en, "congenital stationary night blindness 1D autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110868"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110869 obo:IAO_0000115 "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614565"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1E"@en, "congenital stationary night blindness 1E autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110869"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110870 obo:IAO_0000115 "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310500"^^xsd:string ; oboInOwl:hasExactSynonym "CSNB1A"@en, "NBMI"@en, "complete CSNB X-linked"@en, "congenital stationary night blindness 1A X-linked"@en, "congenital stationary night blindness with myopia"@en, "hemeralopia-myopia"@en, "myopia-night blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110870"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110871 obo:IAO_0000115 "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300071"^^xsd:string ; oboInOwl:hasExactSynonym "congenital stationary night blindness 2A X-linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110871"^^xsd:string ; a owl:Class ; rdfs:label "congenital stationary night blindness 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050534, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0110872 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:157170"^^xsd:string ; oboInOwl:hasExactSynonym "HPE2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110872"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110873 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610829"^^xsd:string ; oboInOwl:hasExactSynonym "HPE9"@en, "holoprosencephaly with microphthalmia and first branchial arch anomalies"@en, "pituitary anomalies with holoprosencephaly-like features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110873"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110874 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605934"^^xsd:string ; oboInOwl:hasExactSynonym "HPE6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110874"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 6"^^xsd:string ; rdfs:subClassOf obo:DOID_4621 . obo:DOID_0110875 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:142945"^^xsd:string ; oboInOwl:hasExactSynonym "HLP3"@en, "HPE3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110875"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110876 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610828"^^xsd:string ; oboInOwl:hasExactSynonym "HPE7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110876"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110877 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614226"^^xsd:string ; oboInOwl:hasExactSynonym "HPE11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110877"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110878 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609637"^^xsd:string ; oboInOwl:hasExactSynonym "HPE5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110878"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110879 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609408"^^xsd:string ; oboInOwl:hasExactSynonym "HPE8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110879"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 8"^^xsd:string ; rdfs:subClassOf obo:DOID_4621 . obo:DOID_0110880 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:142946"^^xsd:string ; oboInOwl:hasExactSynonym "HPE4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110880"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110881 obo:IAO_0000115 "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236100"^^xsd:string ; oboInOwl:hasExactSynonym "HPE1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110881"^^xsd:string ; a owl:Class ; rdfs:label "holoprosencephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4621, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110882 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605225"^^xsd:string ; oboInOwl:hasExactSynonym "IBD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110882"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110883 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612261"^^xsd:string ; oboInOwl:hasExactSynonym "IBD17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110883"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110884 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612381"^^xsd:string ; oboInOwl:hasExactSynonym "IBD23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110884"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110885 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611081"^^xsd:string ; oboInOwl:hasExactSynonym "IBD10"@en, "inflammatory bowel disease (Crohn disease) 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110885"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110886 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608448"^^xsd:string ; oboInOwl:hasExactSynonym "IBD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110886"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110887 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612241"^^xsd:string ; oboInOwl:hasExactSynonym "IBD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110887"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110888 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612262"^^xsd:string ; oboInOwl:hasExactSynonym "IBD18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110888"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110889 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606348"^^xsd:string ; oboInOwl:hasExactSynonym "IBD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110889"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110890 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612278"^^xsd:string ; oboInOwl:hasExactSynonym "IBD19"@en, "inflammatory bowel disease (Crohn disease) 19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110890"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110891 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604519"^^xsd:string ; oboInOwl:hasExactSynonym "IBD3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110891"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110892 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:266600"^^xsd:string ; oboInOwl:hasExactSynonym "IBD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110892"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110893 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612244"^^xsd:string ; oboInOwl:hasExactSynonym "IBD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110893"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110894 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:191390"^^xsd:string ; oboInOwl:hasExactSynonym "IBD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110894"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110895 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612245"^^xsd:string ; oboInOwl:hasExactSynonym "IBD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110895"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110896 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612259"^^xsd:string ; oboInOwl:hasExactSynonym "IBD16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110896"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110897 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612255"^^xsd:string ; oboInOwl:hasExactSynonym "IBD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110897"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110898 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612288"^^xsd:string ; oboInOwl:hasExactSynonym "IBD20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110898"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110899 obo:IAO_0000115 "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613148"^^xsd:string ; oboInOwl:hasExactSynonym "IBD28"@en, "early onset autosomal recessive inflammatory bowel disease 28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110899"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110900 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601458"^^xsd:string ; oboInOwl:hasExactSynonym "IBD2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110900"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110901 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612639"^^xsd:string ; oboInOwl:hasExactSynonym "IBD26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110901"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110902 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612796"^^xsd:string ; oboInOwl:hasExactSynonym "IBD27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110902"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110903 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606675"^^xsd:string ; oboInOwl:hasExactSynonym "IBD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110903"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110904 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606668"^^xsd:string ; oboInOwl:hasExactSynonym "IBD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110904"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110905 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612380"^^xsd:string ; oboInOwl:hasExactSynonym "IBD22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110905"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110906 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612354"^^xsd:string ; oboInOwl:hasExactSynonym "IBD21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110906"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110907 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606674"^^xsd:string ; oboInOwl:hasExactSynonym "IBD6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110907"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110908 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612566"^^xsd:string ; oboInOwl:hasExactSynonym "IBD24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110908"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0050589, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110909 obo:IAO_0000115 "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612567"^^xsd:string ; oboInOwl:hasExactSynonym "IBD25"@en, "early onset autosomal recessive inflammatory bowel disease 25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110909"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110910 obo:IAO_0000115 "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:116920"^^xsd:string, "ORDO:99842"^^xsd:string ; oboInOwl:hasExactSynonym "LAD1"@en, "LFA1 immunodeficiency"@en, "leukocyte adhesion deficiency type I"@en, "lymphocyte function-associated antigen 1 immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110910"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte adhesion deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_6612 . obo:DOID_0110912 obo:IAO_0000115 "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612840"^^xsd:string, "ORDO:99844"^^xsd:string ; oboInOwl:hasExactSynonym "IADD"@en, "LAD1 variant"@en, "LAD1V"@en, "LAD3"@en, "integrin activation deficiency disease"@en, "leukocyte adhesion deficiency 1 variant"@en, "leukocyte adhesion deficiency type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110912"^^xsd:string ; a owl:Class ; rdfs:label "leukocyte adhesion deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_6612 . obo:DOID_0110913 obo:IAO_0000115 "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of ALPL on chromosome 1p36.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146300"^^xsd:string, "ORDO:247676"^^xsd:string ; oboInOwl:hasExactSynonym "mild hypophosphatasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110913"^^xsd:string ; a owl:Class ; rdfs:label "adult hypophosphatasia"^^xsd:string ; rdfs:subClassOf obo:DOID_14213, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0110914 obo:IAO_0000115 "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:241500"^^xsd:string, "ORDO:247651"^^xsd:string ; oboInOwl:hasExactSynonym "Hops"@en, "phosphoethanolaminuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110914"^^xsd:string ; a owl:Class ; rdfs:label "infantile hypophosphatasia"^^xsd:string ; rdfs:subClassOf obo:DOID_14213 . obo:DOID_0110915 obo:IAO_0000115 "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:8735"^^xsd:string, "OMIM:241510"^^xsd:string, "ORDO:247667"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110915"^^xsd:string ; a owl:Class ; rdfs:label "childhood hypophosphatasia"^^xsd:string ; rdfs:subClassOf obo:DOID_14213, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011463 ] . obo:DOID_0110916 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:182900"^^xsd:string ; oboInOwl:hasExactSynonym "HS1"@en, "SPH1"@en, "hereditary spherocytosis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110916"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110917 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616649"^^xsd:string ; oboInOwl:hasExactSynonym "HS2"@en, "SPH2"@en, "hereditary spherocytosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110917"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110918 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:270970"^^xsd:string ; oboInOwl:hasExactSynonym "HS3"@en, "SPH3"@en, "hereditary spherocytosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110918"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110919 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SLC4A1 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612653"^^xsd:string ; oboInOwl:hasExactSynonym "HS4"@en, "SPH4"@en, "hereditary spherocytosis 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110919"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110920 obo:IAO_0000115 "A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612690"^^xsd:string ; oboInOwl:hasExactSynonym "HS5"@en, "SPH5"@en, "hereditary spherocytosis 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110920"^^xsd:string ; a owl:Class ; rdfs:label "hereditary spherocytosis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12971, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110921 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:267700"^^xsd:string ; oboInOwl:hasExactSynonym "FHL1"@en, "HLH1"@en, "HPLH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110921"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110922 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9922"^^xsd:string, "OMIM:603553"^^xsd:string ; oboInOwl:hasExactSynonym "FHL2"@en, "HLH2"@en, "HPLH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110922"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110923 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9928"^^xsd:string, "OMIM:608898"^^xsd:string ; oboInOwl:hasExactSynonym "FHL3"@en, "HLH3"@en, "HPLH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110923"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110924 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9929"^^xsd:string, "OMIM:603552"^^xsd:string ; oboInOwl:hasExactSynonym "FHL4"@en, "HLH4"@en, "HPLH4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110924"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110925 obo:IAO_0000115 "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613101"^^xsd:string ; oboInOwl:hasExactSynonym "FHL5"@en, "HLH5"@en, "HPLH5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110925"^^xsd:string ; a owl:Class ; rdfs:label "familial hemophagocytic lymphohistiocytosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050120, obo:DOID_0050177, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0110926 obo:IAO_0000115 "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609284"^^xsd:string ; oboInOwl:hasExactSynonym "NEM1"@en, "nemaline myopathy 1, autosomal dominant or recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110926"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110927 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:161800"^^xsd:string ; oboInOwl:hasExactSynonym "NEM3"@en, "nemaline myopathy 3, autosomal dominant or recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110927"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110928 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256030"^^xsd:string ; oboInOwl:hasExactSynonym "NEM2"@en, "nemaline myopathy 2, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110928"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110929 obo:IAO_0000115 "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615731"^^xsd:string ; oboInOwl:hasExactSynonym "NEM9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110929"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110930 obo:IAO_0000115 "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615348"^^xsd:string ; oboInOwl:hasExactSynonym "NEM8"@en, "nemaline myopathy 8, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110930"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110931 obo:IAO_0000115 "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616165"^^xsd:string ; oboInOwl:hasExactSynonym "NEM10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110931"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0110932 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609285"^^xsd:string ; oboInOwl:hasExactSynonym "NEM4"@en, "nemaline myopathy 4, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110932"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110933 obo:IAO_0000115 "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617336"^^xsd:string ; oboInOwl:hasExactSynonym "NEM11"@en, "nemaline myopathy 11, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110933"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110934 obo:IAO_0000115 "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610687"^^xsd:string ; oboInOwl:hasExactSynonym "NEM7"@en, "nemaline myopathy 7, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110934"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110935 obo:IAO_0000115 "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609273"^^xsd:string ; oboInOwl:hasExactSynonym "nemaline myopathy 6, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110935"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0110936 obo:IAO_0000115 "A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605355"^^xsd:string ; oboInOwl:hasExactSynonym "ANM"@en, "Amish nemaline myopathy"@en, "NEM5"@en, "nemaline myopathy 5, Amish type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110936"^^xsd:string ; a owl:Class ; rdfs:label "nemaline myopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110937 obo:IAO_0000115 "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536056"^^xsd:string, "OMIM:607634"^^xsd:string, "ORDO:2783"^^xsd:string, "UMLS_CUI:C1843330"^^xsd:string ; oboInOwl:hasExactSynonym "OPTA1"@en, "autosomal dominant osteopetrosis type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110937"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant osteopetrosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110938 obo:IAO_0000115 "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:383"^^xsd:string, "MESH:D010022"^^xsd:string, "OMIM:166600"^^xsd:string, "ORDO:53"^^xsd:string, "SNOMEDCT_US_2021_03_01:725050005"^^xsd:string, "UMLS_CUI:C3179239"^^xsd:string ; oboInOwl:hasExactSynonym "Albers-Schonberg osteopetrosis"@en, "OPTA2"@en, "autosomal dominant Albers-Schonberg disease"@en, "autosomal dominant osteopetrosis type II"@en, "osteopetrosis autosomal dominant type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110938"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant osteopetrosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060564, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0110939 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4153"^^xsd:string, "OMIM:259720"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB5"@en, "infantile malignant osteopetrosis 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110939"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110940 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615085"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110940"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110941 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4154"^^xsd:string, "OMIM:259730"^^xsd:string ; oboInOwl:hasExactSynonym "Guibaud-Vainsel syndrome"@en, "OPTB3"@en, "autosomal recessive osteopetrosis 3 with renal tubular acidosis"@en, "carbonic anhydrase II deficiency"@en, "marble brain disease"@en, "osteopetrosis with renal tubular acidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110941"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110942 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2579"^^xsd:string, "OMIM:259700"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB1"@en, "autosomal recessive Albers-Schonberg disease"@en, "infantile malignant osteopetrosis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110942"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110943 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14."^^xsd:string ; oboInOwl:hasDbXref "GARD:4157"^^xsd:string, "OMIM:259710"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB2"@en, "mild autosomal recessive form osteopetrosis"@en, "osteoclast-poor osteopetrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110943"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110944 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5993"^^xsd:string, "OMIM:611490"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB4"@en, "infantile malignant osteopetrosis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110944"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110945 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:4156"^^xsd:string, "OMIM:611497"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB6"@en, "autosomal recessive osteopetrosis intermediate form"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110945"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110946 obo:IAO_0000115 "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10106"^^xsd:string, "ICD10CM:Q78.2"^^xsd:string, "OMIM:612301"^^xsd:string, "ORDO:178389"^^xsd:string ; oboInOwl:hasExactSynonym "OPTB7"@en, "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia"@en, "autosomal recessive osteopetrosis type 7"@en, "osteoclast-poor osteopetrosis with hypogammaglobulinemia"@en, "osteopetrosis-hypogammaglobulinemia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110946"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive osteopetrosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13533, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110947 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:5522"^^xsd:string, "OMIM:600193"^^xsd:string ; oboInOwl:hasExactSynonym "WS2B"@en, "Waardenburg syndrome type IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110947"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110948 obo:IAO_0000115 "A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014849"^^xsd:string, "NCI:C75008"^^xsd:string, "OMIM:193500"^^xsd:string, "ORDO:894"^^xsd:string, "SNOMEDCT_US_2021_03_01:1010606009"^^xsd:string, "UMLS_CUI:C1847800"^^xsd:string ; oboInOwl:hasExactSynonym "WS1"@en, "Waardenburg syndrome type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110948"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Waardenburg syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110949 obo:IAO_0000115 "A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36."^^xsd:string ; oboInOwl:hasDbXref "GARD:5523"^^xsd:string, "ICD10CM:E70.3"^^xsd:string, "OMIM:148820"^^xsd:string, "ORDO:896"^^xsd:string ; oboInOwl:hasExactSynonym "Klein-Waardenburg syndrome"@en, "WS3"@en, "Waardenburg syndrome type III"@en, "Waardenburg syndrome with upper limb anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110949"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110950 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:5521"^^xsd:string, "OMIM:193510"^^xsd:string ; oboInOwl:hasExactSynonym "WS2A"@en, "Waardenburg syndrome type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110950"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110951 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606662"^^xsd:string ; oboInOwl:hasExactSynonym "WS2C"@en, "Waardenburg syndrome type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110951"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110952 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608890"^^xsd:string ; oboInOwl:hasExactSynonym "WS2D"@en, "Waardenburg syndrome type IID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110952"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110953 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277580"^^xsd:string ; oboInOwl:hasExactSynonym "WS4A"@en, "Waardenburg syndrome type IVA"@en, "Waardenburg syndrome with Hirschsprung disease type 4A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110953"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 4A"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110954 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613265"^^xsd:string ; oboInOwl:hasExactSynonym "WS4B"@en, "Waardenburg syndrome type IVB"@en, "Waardenburg syndrome with Hirschsprung disease type 4B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110954"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 4B"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110955 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613266"^^xsd:string ; oboInOwl:hasExactSynonym "WS4C"@en, "Waardenburg syndrome type IVC"@en, "Waardenburg syndrome with Hirschsprung disease type 4C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110955"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 4C"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110956 obo:IAO_0000115 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611584"^^xsd:string ; oboInOwl:hasExactSynonym "WS2E"@en, "WS2E with or without neurological involvement"@en, "Waardenburg syndrome type 2E with or without neurologic involvement"@en, "Waardenburg syndrome type IIE"@en, "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110956"^^xsd:string ; a owl:Class ; rdfs:label "Waardenburg syndrome type 2E"^^xsd:string ; rdfs:subClassOf obo:DOID_9258 . obo:DOID_0110957 obo:IAO_0000115 "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:230800"^^xsd:string, "ORDO:77259"^^xsd:string ; oboInOwl:hasExactSynonym "Acid Beta-Glucosidase Deficiency"@en, "GD I"@en, "GD1"^^xsd:string, "Gaucher Disease, Noncerebral Juvenile"@en, "Gba Deficiency"@en, "Glucocerebrosidase Deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110957"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type I"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110958 obo:IAO_0000115 "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:230900"^^xsd:string, "ORDO:77260"^^xsd:string ; oboInOwl:hasExactSynonym "GD II"@en, "GD2"^^xsd:string, "Gaucher Disease, Acute Neuronopathic Type"@en, "Infantile Cerebral Gaucher Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110958"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type II"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110959 obo:IAO_0000115 "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:231000"^^xsd:string, "ORDO:77261"^^xsd:string ; oboInOwl:hasExactSynonym "GD III"@en, "Gaucher Disease, Chronic Neuronopathic Type"@en, "Gaucher Disease, Juvenile And Adult, Cerebral"@en, "Gaucher Disease, Subacute Neuronopathic Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110959"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type III"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0110960 obo:IAO_0000115 "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:608013"^^xsd:string, "ORDO:85212"^^xsd:string ; oboInOwl:hasExactSynonym "Fetal Gaucher Disease"@en, "Gaucher Disease, Collodion Type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110960"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease perinatal lethal"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110961 obo:IAO_0000115 "A Gaucher's disease that has_material_basis_in an autosomal recessive mutation of PSAP on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E75.2"^^xsd:string, "OMIM:610539"^^xsd:string, "ORDO:309252"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110961"^^xsd:string ; a owl:Class ; rdfs:label "atypical Gaucher's disease due to saposin c deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_1926, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110962 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q73.8"^^xsd:string, "OMIM:112450"^^xsd:string, "ORDO:1278"^^xsd:string ; oboInOwl:hasExactSynonym "Christian brachydactyly"@en, "preaxial brachydactyly with hallux varus and thumb abduction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110962"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly-preaxial hallux varus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110963 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q73.8"^^xsd:string, "OMIM:112440"^^xsd:string, "ORDO:93395"^^xsd:string ; oboInOwl:hasExactSynonym "Ballard type brachydactyly"@en, "Pitt-Williams brachydactyly"@en, "brachydactyly types B and E combined"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110963"^^xsd:string ; a owl:Class ; rdfs:label "Ballard syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110964 obo:IAO_0000115 "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes."^^xsd:string ; oboInOwl:hasDbXref "GARD:978"^^xsd:string, "OMIM:112500"^^xsd:string, "ORDO:93388"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1"@en, "Farabee type brachydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110964"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110965 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:979"^^xsd:string, "MESH:C537089"^^xsd:string, "OMIM:112600"^^xsd:string, "ORDO:93396"^^xsd:string, "SNOMEDCT_US_2021_03_01:720569006"^^xsd:string, "UMLS_CUI:C1832702"^^xsd:string ; oboInOwl:hasExactSynonym "BDA2"@en, "Mohr-Wriedt type brachydactyly"@en, "brachymesophalangy II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110965"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110966 obo:IAO_0000115 "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger."^^xsd:string ; oboInOwl:hasDbXref "GARD:963"^^xsd:string, "OMIM:112700"^^xsd:string ; oboInOwl:hasExactSynonym "BDA3"@en, "brachydactyly-clinodactyly"@en, "brachymesophalangy V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110966"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110967 obo:IAO_0000115 "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus."^^xsd:string ; oboInOwl:hasDbXref "GARD:990"^^xsd:string, "ICD10CM:Q73.8"^^xsd:string, "OMIM:112800"^^xsd:string, "ORDO:93394"^^xsd:string ; oboInOwl:hasExactSynonym "BDA4"@en, "Temtamy type brachydactyly"@en, "brachymesophalangy II and V"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110967"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110968 obo:IAO_0000115 "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions."^^xsd:string ; oboInOwl:hasDbXref "GARD:983"^^xsd:string, "MESH:C537092"^^xsd:string, "OMIM:112910"^^xsd:string, "ORDO:93382"^^xsd:string, "SNOMEDCT_US_2021_03_01:715722003"^^xsd:string, "UMLS_CUI:C1862130"^^xsd:string ; oboInOwl:hasExactSynonym "BDA6"@en, "Osebold-Remondini syndrome"@en, "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110968"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110969 obo:IAO_0000115 "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113000"^^xsd:string ; oboInOwl:hasExactSynonym "BDB1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110969"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110970 obo:IAO_0000115 "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:986"^^xsd:string, "MESH:C537093"^^xsd:string, "OMIM:113100"^^xsd:string, "ORDO:93384"^^xsd:string, "SNOMEDCT_US_2021_03_01:389169005"^^xsd:string, "UMLS_CUI:C1300268"^^xsd:string, "UMLS_CUI:C1862103"^^xsd:string ; oboInOwl:hasExactSynonym "BDC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110970"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110971 obo:IAO_0000115 "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113200"^^xsd:string ; oboInOwl:hasExactSynonym "BDD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110971"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0110972 obo:IAO_0000115 "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113300"^^xsd:string ; oboInOwl:hasExactSynonym "BDE1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110972"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type E1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110973 obo:IAO_0000115 "A brachydactyly characterized by short, abducted thumbs and great toes."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535914"^^xsd:string, "OMIM:301940"^^xsd:string, "ORDO:2565"^^xsd:string, "SNOMEDCT_US_2021_03_01:733095006"^^xsd:string, "UMLS_CUI:C2931060"^^xsd:string ; oboInOwl:hasExactSynonym "Mononen type brachydactyly"@en, "short and abducted thumbs and great toes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110973"^^xsd:string ; a owl:Class ; rdfs:label "Mononen-Karnes-Senac syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002389 ) ] ] . obo:DOID_0110974 obo:IAO_0000115 "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607004"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110974"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0110964, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110975 obo:IAO_0000115 "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q73.8"^^xsd:string, "OMIM:611377"^^xsd:string, "ORDO:140908"^^xsd:string ; oboInOwl:hasExactSynonym "BDB2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110975"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110976 obo:IAO_0000115 "A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613382"^^xsd:string ; oboInOwl:hasExactSynonym "BDE2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110976"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type E2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581 . obo:DOID_0110977 obo:IAO_0000115 "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615072"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110977"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0110964, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110978 obo:IAO_0000115 "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616849"^^xsd:string ; oboInOwl:hasExactSynonym "BDA1D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110978"^^xsd:string ; a owl:Class ; rdfs:label "brachydactyly type A1D"^^xsd:string ; rdfs:subClassOf obo:DOID_0110964, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0110979 obo:IAO_0000115 "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position."^^xsd:string ; oboInOwl:hasDbXref "GARD:5058"^^xsd:string, "OMIM:272150"^^xsd:string, "ORDO:498602"^^xsd:string ; oboInOwl:hasExactSynonym "brachydactyly with major proximal phalangeal shortening"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110979"^^xsd:string ; a owl:Class ; rdfs:label "Sugarman brachydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050581, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_0110980 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:213300"^^xsd:string ; oboInOwl:hasExactSynonym "CORS1"@en, "CPD4"@en, "JBTS1"@en, "cerebellooculorenal syndrome 1"@en, "cerebelloparenchymal disorder IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110980"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110981 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567582"^^xsd:string, "OMIM:300804"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110981"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0110982 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614173"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110982"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110983 obo:IAO_0000115 "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614424"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110983"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110984 obo:IAO_0000115 "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614464"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110984"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110985 obo:IAO_0000115 "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614465"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110985"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110986 obo:IAO_0000115 "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614615"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110986"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110987 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614815"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110987"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110988 obo:IAO_0000115 "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10167"^^xsd:string, "MESH:C536294"^^xsd:string, "OMIM:608091"^^xsd:string ; oboInOwl:hasExactSynonym "CORS2"@en, "JBTS2"@en, "cerebellooculorenal syndrome 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110988"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110989 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614970"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110989"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110990 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615636"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110990"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110991 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615665"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110991"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110992 obo:IAO_0000115 "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616490"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110992"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110993 obo:IAO_0000115 "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616654"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110993"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110994 obo:IAO_0000115 "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616781"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110994"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110995 obo:IAO_0000115 "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616784"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110995"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110996 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617120"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110996"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110997 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617121"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS28"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110997"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110998 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536295"^^xsd:string, "OMIM:608629"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110998"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0110999 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10169"^^xsd:string, "MESH:C536296"^^xsd:string, "OMIM:609583"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0110999"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111000 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537688"^^xsd:string, "OMIM:610188"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111000"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111001 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537689"^^xsd:string, "OMIM:610688"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111001"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111002 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566916"^^xsd:string, "OMIM:611560"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111002"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111003 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567358"^^xsd:string, "OMIM:612291"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111003"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111004 obo:IAO_0000115 "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567364"^^xsd:string, "OMIM:612285"^^xsd:string ; oboInOwl:hasExactSynonym "JBTS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111004"^^xsd:string ; a owl:Class ; rdfs:label "Joubert syndrome 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050777 . obo:DOID_0111005 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6145"^^xsd:string, "OMIM:120970"^^xsd:string ; oboInOwl:hasExactSynonym "CORD2"@en, "CRD2"@en, "RCRD2"@en, "cone-rod retinal dystrophy 2"@en, "retinal cone-rod dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111005"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111006 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300085"^^xsd:string ; oboInOwl:hasExactSynonym "COD2"@en, "CORDX2"@en, "X-linked cone dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111006"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cone-rod dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111007 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300476"^^xsd:string ; oboInOwl:hasExactSynonym "CORDX3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111007"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cone-rod dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111008 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:304020"^^xsd:string ; oboInOwl:hasExactSynonym "COD1"@en, "CORDX1"@en, "X-linked cone dystrophy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111008"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cone-rod dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111009 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10651"^^xsd:string, "OMIM:600624"^^xsd:string ; oboInOwl:hasExactSynonym "CORD1"@en, "CRD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111009"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111010 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600977"^^xsd:string ; oboInOwl:hasExactSynonym "CORD5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111010"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111011 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10656"^^xsd:string, "OMIM:601777"^^xsd:string ; oboInOwl:hasExactSynonym "CORD6"@en, "RCD2"@en, "retinal cone dystrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111011"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111012 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603649"^^xsd:string ; oboInOwl:hasExactSynonym "CORD7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111012"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111013 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10653"^^xsd:string, "OMIM:604116"^^xsd:string ; oboInOwl:hasExactSynonym "CORD3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111013"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111014 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605549"^^xsd:string ; oboInOwl:hasExactSynonym "CORD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111014"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111015 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607476"^^xsd:string ; oboInOwl:hasExactSynonym "NFRCD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111015"^^xsd:string ; a owl:Class ; rdfs:label "Newfoundland cone-rod dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111016 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608194"^^xsd:string ; oboInOwl:hasExactSynonym "CORD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111016"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111017 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610283"^^xsd:string ; oboInOwl:hasExactSynonym "CORD10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111017"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111018 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610381"^^xsd:string ; oboInOwl:hasExactSynonym "CORD11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111018"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111019 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612657"^^xsd:string ; oboInOwl:hasExactSynonym "CORD12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111019"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111020 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612775"^^xsd:string ; oboInOwl:hasExactSynonym "CORD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111020"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111021 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613660"^^xsd:string ; oboInOwl:hasExactSynonym "CORD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111021"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111022 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614500"^^xsd:string ; oboInOwl:hasExactSynonym "CORD16"@en, "retinal dystrophy with early macular involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111022"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111023 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615163"^^xsd:string ; oboInOwl:hasExactSynonym "CORD17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111023"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111024 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615374"^^xsd:string ; oboInOwl:hasExactSynonym "CORD18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111024"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111025 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615860"^^xsd:string ; oboInOwl:hasExactSynonym "CORD19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111025"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111026 obo:IAO_0000115 "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615973"^^xsd:string ; oboInOwl:hasExactSynonym "CORD20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111026"^^xsd:string ; a owl:Class ; rdfs:label "cone-rod dystrophy 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050572 . obo:DOID_0111027 obo:IAO_0000115 "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602390"^^xsd:string ; oboInOwl:hasExactSynonym "HFE2A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111027"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111034, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111028 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10094"^^xsd:string, "MESH:C537249"^^xsd:string, "OMIM:606069"^^xsd:string, "ORDO:139491"^^xsd:string, "SNOMEDCT_US_2021_03_01:719975002"^^xsd:string, "UMLS_CUI:C1853733"^^xsd:string ; oboInOwl:hasExactSynonym "HFE4"@en, "autosomal dominant hereditary hemochromatosis"@en, "ferroportin disease"@en, "hemochromatosis due to defect in ferroportin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111028"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111029 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10417"^^xsd:string, "ICD10CM:E83.1"^^xsd:string, "OMIM:235200"^^xsd:string, "ORDO:465508"^^xsd:string ; oboInOwl:hasExactSynonym "HFE1"@en, "symptomatic form of HFE-related hereditary hemochromatosis"@en, "symptomatic form of classic hemochromatosis"@en, "symptomatic form of hemochromatosis type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111029"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111030 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:10093"^^xsd:string, "MESH:C537248"^^xsd:string, "OMIM:604250"^^xsd:string, "ORDO:225123"^^xsd:string, "SNOMEDCT_US_2021_03_01:719974003"^^xsd:string, "UMLS_CUI:C1858664"^^xsd:string ; oboInOwl:hasExactSynonym "HFE3"@en, "TFR2-related hemochromatosis"@en, "hemochromatosis due to defect in transferrin receptor 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111030"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111031 obo:IAO_0000115 "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.1"^^xsd:string, "OMIM:615517"^^xsd:string, "ORDO:247790"^^xsd:string ; oboInOwl:hasExactSynonym "FTH1-associated iron overload"@en, "FTH1-related iron overload"@en, "HFE5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111031"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_2352, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111032 obo:IAO_0000115 "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613313"^^xsd:string ; oboInOwl:hasExactSynonym "HFE2B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111032"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111034, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111033 obo:IAO_0000115 "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E83.1"^^xsd:string, "OMIM:601195"^^xsd:string, "ORDO:139507"^^xsd:string ; oboInOwl:hasExactSynonym "Bantu siderosis"@en, "iron overload in Africa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111033"^^xsd:string ; a owl:Class ; rdfs:label "African iron overload"^^xsd:string ; rdfs:subClassOf obo:DOID_2352 . obo:DOID_0111034 obo:IAO_0000115 "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:10092"^^xsd:string, "ICD10CM:E83.1"^^xsd:string, "MESH:C537247"^^xsd:string, "ORDO:79230"^^xsd:string ; oboInOwl:hasExactSynonym "HFE2"@en, "JHH"@en, "juvenile hemochromatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111034"^^xsd:string ; a owl:Class ; rdfs:label "hemochromatosis type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2352 . obo:DOID_0111035 obo:IAO_0000115 "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F01.1"^^xsd:string, "OMIM:125310"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111035"^^xsd:string ; a owl:Class ; rdfs:label "CADASIL 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13945, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; owl:disjointWith obo:DOID_0111036 . obo:DOID_0111036 obo:IAO_0000115 "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F01.1"^^xsd:string, "OMIM:616779"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111036"^^xsd:string ; a owl:Class ; rdfs:label "CADASIL 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13945, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111037 obo:IAO_0000115 "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10764"^^xsd:string, "ICD10CM:E72.1"^^xsd:string, "OMIM:606664"^^xsd:string, "ORDO:289891"^^xsd:string ; oboInOwl:hasExactSynonym "GNMT deficiency"@en, "hypermethioninemia due to GNMT deficiency"@en, "hypermethioninemia due to glycine N-methyltransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111037"^^xsd:string ; a owl:Class ; rdfs:label "glycine N-methyltransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050544 . obo:DOID_0111038 obo:IAO_0000115 "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E72.1"^^xsd:string, "OMIM:614300"^^xsd:string, "ORDO:289290"^^xsd:string ; oboInOwl:hasExactSynonym "ADK hypermethioninemia"@en, "MRT8"@en, "autosomal recessive mental retardation 8"@en, "hypermethioninemia encephalopathy due to ADK deficiency"@en, "hypermethioninemia encephalopathy due to adenosine kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111038"^^xsd:string ; a owl:Class ; rdfs:label "hypermethioninemia due to adenosine kinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050544 . obo:DOID_0111039 obo:IAO_0000115 "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11."^^xsd:string ; oboInOwl:hasDbXref "GARD:13177"^^xsd:string, "ICD10CM:E72.1"^^xsd:string, "OMIM:613752"^^xsd:string, "ORDO:88618"^^xsd:string ; oboInOwl:hasExactSynonym "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency"@en, "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111039"^^xsd:string ; a owl:Class ; rdfs:label "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"^^xsd:string ; rdfs:subClassOf obo:DOID_0050544 . obo:DOID_0111040 obo:IAO_0000115 "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:300559"^^xsd:string, "ORDO:715"^^xsd:string ; oboInOwl:hasExactSynonym "GSD IXd"@en, "GSD due to muscle phosphorylase kinase deficiency"@en, "GSD type 9D"@en, "GSD type 9E"@en, "GSD type IXd"@en, "GSD type IXe"@en, "GSD9D"@en, "X-linked muscke glycogenosis"@en, "glycogen storage disease due to muscle phosphorylase kinase deficiency"@en, "glycogen storage disease type 9D"@en, "glycogen storage disease type 9E"@en, "glycogen storage disease type IXd"@en, "glycogen storage disease type IXe"@en, "glycogenosis due to muscle phosphorylase kinase deficiency"@en, "glycogenosis type 9D"@en, "glycogenosis type 9E"@en, "glycogenosis type IXd"@en, "glycogenosis type IXe"@en, "muscle phosphorylase kinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111040"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXd"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111041 obo:IAO_0000115 "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:261750"^^xsd:string, "ORDO:79240"^^xsd:string ; oboInOwl:hasExactSynonym "GSD IXb"@en, "GSD due to liver and muscle phosphorylase kinase deficiency"@en, "GSD type 9B"@en, "GSD type IXb"@en, "GSD9B"@en, "glycogen storage disease type 9B"@en, "glycogen storage disease type IXb"@en, "glycogenosis due to liver and muscle phosphorylase kinase deficiency"@en, "glycogenosis type 9B"@en, "glycogenosis type IXb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111041"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXb"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111042 obo:IAO_0000115 "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:306000"^^xsd:string ; oboInOwl:hasExactSynonym "GSD type 9A"@en, "GSD type IXa"@en, "GSD9A"@en, "glycogen storage disease type 9A"@en, "glycogen storage disease type IXa"@en, "glycogenosis type 9A"@en, "glycogenosis type IXa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111042"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ] . obo:DOID_0111043 obo:IAO_0000115 "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.0"^^xsd:string, "OMIM:613027"^^xsd:string ; oboInOwl:hasExactSynonym "GSD type 9C"@en, "GSD type IXc"@en, "GSD9C"@en, "glycogen storage disease type 9C"@en, "glycogen storage disease type IXc"@en, "glycogenosis type 9C"@en, "glycogenosis type IXc"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111043"^^xsd:string ; a owl:Class ; rdfs:label "glycogen storage disease IXc"^^xsd:string ; rdfs:subClassOf obo:DOID_0050594, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111044 obo:IAO_0000115 "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:2562"^^xsd:string, "ICD10CM:D69.1"^^xsd:string, "MESH:D055652"^^xsd:string, "NCI:C84741"^^xsd:string, "OMIM:139090"^^xsd:string, "ORDO:721"^^xsd:string, "SNOMEDCT_US_2021_03_01:51720005"^^xsd:string, "UMLS_CUI:C0272302"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT4"@en, "GPS"@en, "platelet alpha-granule deficiency"@en, "platelet-type bleeding disorder 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gray platelet syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111045 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:614200"^^xsd:string, "ORDO:98886"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT9"@en, "GP Ia deficiency"@en, "collagen platelet receptor deficiency"@en, "glycoprotein Ia deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111045"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111046 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608404"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT10"@en, "CD36 deficiency"@en, "platelet glycoprotein IV deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111046"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111047 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614158"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT14"@en, "thromboxane synthase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111047"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111048 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.4"^^xsd:string, "OMIM:616176"^^xsd:string, "ORDO:438207"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT19"@en, "severe autosomal recessive macrothrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111048"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111049 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.1"^^xsd:string, "MESH:D055652"^^xsd:string, "NCI:C84741"^^xsd:string, "OMIM:187900"^^xsd:string, "SNOMEDCT_US_2021_03_01:51720005"^^xsd:string, "UMLS_CUI:C0272302"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT17"@en, "hereditary thrombasthenia-thrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111049"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111050 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:8345"^^xsd:string, "MESH:C536260"^^xsd:string, "OMIM:601709"^^xsd:string, "ORDO:220436"^^xsd:string, "UMLS_CUI:C1866423"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT5"@en, "factor V Quebec"@en, "platelet-type bleeding disorder 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111050"^^xsd:string ; a owl:Class ; rdfs:label "Quebec platelet disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111051 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.1"^^xsd:string, "OMIM:615888"^^xsd:string, "ORDO:420566"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT18"@en, "bleeding disorder due to CalDAG-GEFI deficiency"@en, "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111051"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111052 obo:IAO_0000115 "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:4777"^^xsd:string, "MESH:C563120"^^xsd:string, "OMIM:262890"^^xsd:string, "ORDO:806"^^xsd:string, "SNOMEDCT_US_2021_03_01:128098009"^^xsd:string, "UMLS_CUI:C0796149"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT7"@en, "SCTS"@en, "bleeding abnormality due to deficiency of platelet biding of factor X"@en, "familial prothrombin consumption inhibitor"@en, "familial prothrombin conversion defect"@en, "platelet-type bleeding disorder 7"@en, "prothrombin consumption deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111052"^^xsd:string ; a owl:Class ; rdfs:label "Scott syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1247 . obo:DOID_0111053 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615193"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT15"@en, "autosomal dominant macrothrombocytopenia ACTN1-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111053"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111054 obo:IAO_0000115 "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:D056729"^^xsd:string, "NCI:C85213"^^xsd:string, "OMIM:277480"^^xsd:string, "ORDO:166096"^^xsd:string, "SNOMEDCT_US_2021_03_01:128108002"^^xsd:string, "UMLS_CUI:C1264041"^^xsd:string ; oboInOwl:hasExactSynonym "VWD type 3"@en, "VWD3"@en, "von Willebrand disease type 3"@en, "von Willebrand disease type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111054"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "von Willebrand's disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_12531, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111055 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616913"^^xsd:string, "ORDO:466806"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT20"@en, "autosomal dominant thrombocytopenia with platelet secretion defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111055"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111056 obo:IAO_0000115 "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:177820"^^xsd:string, "ORDO:52530"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT3"@en, "PT-VWD"@en, "platelet type-von Willebrand disease"@en, "pseudo-von Willebrand disease"@en, "von Willebrand disease platelet-type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111056"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111057 obo:IAO_0000115 "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D69.8"^^xsd:string, "OMIM:614201"^^xsd:string, "ORDO:98885"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT11"@en, "GP VI deficiency"@en, "glycoprotein VI deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111057"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111058 obo:IAO_0000115 "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605735"^^xsd:string ; oboInOwl:hasExactSynonym "BDPLT12"@en, "PGHS1 deficiency"@en, "platelet COX1 deficiency"@en, "platelet cyclooxygenase 1 deficiency"@en, "platelet prostaglandin-endoperoxide synthase 1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111058"^^xsd:string ; a owl:Class ; rdfs:label "platelet-type bleeding disorder 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2218, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111059 obo:IAO_0000115 "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:153670"^^xsd:string ; oboInOwl:hasExactSynonym "BSSA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111059"^^xsd:string ; a owl:Class ; rdfs:label "Bernard-Soulier syndrome type A2"^^xsd:string ; rdfs:subClassOf obo:DOID_2217, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111060 obo:IAO_0000115 "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:8206"^^xsd:string, "ICD10CM:Q84.2"^^xsd:string, "MESH:C536605"^^xsd:string, "OMIM:145701"^^xsd:string, "ORDO:1023"^^xsd:string ; oboInOwl:hasExactSynonym "Ambras syndrome"@en, "HTC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111060"^^xsd:string ; a owl:Class ; rdfs:label "Ambras type hypertrichosis universalis congenita"^^xsd:string ; rdfs:subClassOf obo:DOID_420 . obo:DOID_0111061 obo:IAO_0000115 "A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605019"^^xsd:string ; oboInOwl:hasExactSynonym "FHBL2"@en, "combined familial hypolipidemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111061"^^xsd:string ; a owl:Class ; rdfs:label "familial hypobetalipoproteinemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1390 ; owl:disjointWith obo:DOID_0111062 . obo:DOID_0111062 obo:IAO_0000115 "A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615558"^^xsd:string ; oboInOwl:hasExactSynonym "FHBL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111062"^^xsd:string ; a owl:Class ; rdfs:label "familial hypobetalipoproteinemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1390 . obo:DOID_0111063 obo:IAO_0000115 "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:10879"^^xsd:string, "ICD10CM:M11.2"^^xsd:string, "OMIM:211900"^^xsd:string, "ORDO:306661"^^xsd:string ; oboInOwl:hasExactSynonym "HFTC"@en, "HHS"@en, "PHPTC"@en, "cortical hyperostosis with hyperphosphatemia"@en, "familial Teutschlaender disease"@en, "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome"@en, "hypercalcemic tumoral calcinosis"@en, "hyperostosis with hyperphosphatemia"@en, "hyperphosphatemia hyperostosis"@en, "hyperphosphatemia hyperostosis syndrome"@en, "hyperphosphatemia tumoral calcinosis"@en, "lipocalcinogranulomatosis"@en, "morbus Teutschlaender"@en, "primary hyperphosphatemic tumoral calcinosis"@en, "tumoral calcinosis with hyperphosphatemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111063"^^xsd:string ; a owl:Class ; rdfs:label "hyperphosphatemic familial tumoral calcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_182, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111064 obo:IAO_0000115 "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G12.2"^^xsd:string, "OMIM:604320"^^xsd:string, "ORDO:98920"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA1"@en, "SIANRF"@en, "SMARD1"@en, "autosomal recessive distal spinal muscular atrophy 1"@en, "autosomal recessive spinal muscular atrophy with respiratory distress"@en, "dHMN6"@en, "diaphragmatic spinal muscular atrophy"@en, "distal hereditary motor neuropathy type 6"@en, "distal-HMN type 6"@en, "severe infantile axonal neuropathy with respiratory failure type 1"@en, "spinal muscular atrophy with respiratory distress type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111064"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111065 obo:IAO_0000115 "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10133"^^xsd:string, "MESH:C535715"^^xsd:string, "OMIM:605726"^^xsd:string, "ORDO:139552"^^xsd:string, "SNOMEDCT_US_2021_03_01:763533003"^^xsd:string, "UMLS_CUI:C1854023"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA2"@en, "autosomal recessive distal spinal muscular atrophy 2"@en, "dHMNJ"@en, "distal hereditary motor neuropathy Jerash type"@en, "spinal muscular atrophy Jerash type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111065"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111066 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616278"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111066"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000470 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111067 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617308"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111067"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111068 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535444"^^xsd:string, "OMIM:214950"^^xsd:string, "ORDO:79095"^^xsd:string, "UMLS_CUI:C1858328"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS4"@en, "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid"@en, "trihydroxycoprostanic acid in bile"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111068"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111069 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535443"^^xsd:string, "OMIM:235555"^^xsd:string, "ORDO:79303"^^xsd:string, "UMLS_CUI:C1856127"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS2"@en, "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111069"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111070 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566340"^^xsd:string, "OMIM:613812"^^xsd:string, "ORDO:79302"^^xsd:string, "UMLS_CUI:C3151147"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS3"@en, "oxysterol 7-alpha-hydroxylase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111070"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111071 obo:IAO_0000115 "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535442"^^xsd:string, "OMIM:607765"^^xsd:string, "ORDO:79301"^^xsd:string, "UMLS_CUI:C1843116"^^xsd:string ; oboInOwl:hasExactSynonym "CBAS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111071"^^xsd:string ; a owl:Class ; rdfs:label "congenital bile acid synthesis defect 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050674, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111072 obo:IAO_0000115 "A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10238"^^xsd:string, "MESH:C536106"^^xsd:string, "OMIM:614160"^^xsd:string, "ORDO:275534"^^xsd:string, "SNOMEDCT_US_2021_03_01:699185005"^^xsd:string, "UMLS_CUI:C2931112"^^xsd:string ; oboInOwl:hasExactSynonym "MSLHP"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111072"^^xsd:string ; a owl:Class ; rdfs:label "myostatin-related muscle hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_66 . obo:DOID_0111073 obo:IAO_0000115 "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS113900"^^xsd:string, "ORDO:871"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB"@en, "familial Lenegre disease"@en, "familial Lev disease"@en, "familial Lev-Lenegre disease"@en, "familial PCCD"@en, "familial progressive heart block"@en, "hereditary bundle branch defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111073"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block"^^xsd:string ; rdfs:subClassOf obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000292 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ] . obo:DOID_0111074 obo:IAO_0000115 "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113900"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111074"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block type IA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111073, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111075 obo:IAO_0000115 "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:140400"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111075"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111073, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000823 ] . obo:DOID_0111076 obo:IAO_0000115 "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604559"^^xsd:string ; oboInOwl:hasExactSynonym "PFHB1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111076"^^xsd:string ; a owl:Class ; rdfs:label "progressive familial heart block type IB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111073, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111077 obo:IAO_0000115 "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:7514"^^xsd:string, "OMIM:266200"^^xsd:string, "ORDO:766"^^xsd:string ; oboInOwl:hasExactSynonym "PK deficiency"@en, "hemolytic anemia due to red cell pyruvate kinase deficiency"@en, "pyruvate kinase deficiency of erythrocyte"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111077"^^xsd:string ; a owl:Class ; rdfs:label "pyruvate kinase deficiency of red cells"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2861, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111078 obo:IAO_0000115 "A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "MESH:D049310"^^xsd:string, "OMIM:600334"^^xsd:string, "ORDO:609"^^xsd:string, "SNOMEDCT_US_2021_03_01:698846009"^^xsd:string, "UMLS_CUI:C1838244"^^xsd:string ; oboInOwl:hasExactSynonym "Finnish tibial muscular dystrophy"@en, "TMD"@en, "Tardive tibial muscular dystrophy"@en, "Udd myopathy"@en, "Udd type distal myopathy"@en, "distal titinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111078"^^xsd:string ; a owl:Class ; rdfs:label "tibial muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11720, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111079 obo:IAO_0000115 "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia."^^xsd:string ; oboInOwl:hasDbXref "GARD:5926"^^xsd:string, "MESH:D000080365"^^xsd:string, "OMIM:605808"^^xsd:string, "ORDO:179"^^xsd:string, "SNOMEDCT_US_2021_03_01:231981005"^^xsd:string, "UMLS_CUI:C1853959"^^xsd:string ; oboInOwl:hasExactSynonym "BSCR"@en, "birdshot chorioretinitis"@en, "birdshot retinochoroiditis"@en, "birdshot retinochoroidopathy"@en, "vitiliginous choroiditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111079"^^xsd:string ; a owl:Class ; rdfs:label "birdshot chorioretinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12574 . obo:DOID_0111080 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617243"^^xsd:string ; oboInOwl:hasExactSynonym "FANCV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111080"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group V"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111081 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616435"^^xsd:string ; oboInOwl:hasExactSynonym "FANCT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111081"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group T"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111082 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614083"^^xsd:string ; oboInOwl:hasExactSynonym "FANCL"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111082"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group L"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111083 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227646"^^xsd:string ; oboInOwl:hasExactSynonym "FA4"@en, "FAD2"@en, "FANCD2"@en, "Fanconi pancytopenia type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111083"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group D2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111084 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600901"^^xsd:string ; oboInOwl:hasExactSynonym "FACE"@en, "FANCE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111084"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group E"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111085 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617247"^^xsd:string ; oboInOwl:hasExactSynonym "FANCU"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111085"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group U"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111086 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614082"^^xsd:string ; oboInOwl:hasExactSynonym "FANCG"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111086"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111087 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227645"^^xsd:string ; oboInOwl:hasExactSynonym "FA3"@en, "FACC"@en, "FANCC"@en, "Fanconi pancytopenia type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111087"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111088 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603467"^^xsd:string ; oboInOwl:hasExactSynonym "FANCF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111088"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group F"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111089 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605724"^^xsd:string ; oboInOwl:hasExactSynonym "FAD1"@en, "FANCD1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111089"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group D1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111090 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617244"^^xsd:string ; oboInOwl:hasExactSynonym "FANCR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111090"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group R"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111091 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609053"^^xsd:string ; oboInOwl:hasExactSynonym "FANCI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111091"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111092 obo:IAO_0000115 "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613951"^^xsd:string ; oboInOwl:hasExactSynonym "FANCP"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111092"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group P"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111093 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615272"^^xsd:string ; oboInOwl:hasExactSynonym "FANCQ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111093"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group Q"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111094 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610832"^^xsd:string ; oboInOwl:hasExactSynonym "FANCN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111094"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group N"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111095 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:227650"^^xsd:string ; oboInOwl:hasExactSynonym "FANCA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111095"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111096 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613390"^^xsd:string ; oboInOwl:hasExactSynonym "FANCO"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111096"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group O"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111097 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609054"^^xsd:string ; oboInOwl:hasExactSynonym "FANCJ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111097"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group J"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111098 obo:IAO_0000115 "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300514"^^xsd:string ; oboInOwl:hasExactSynonym "FACB"@en, "FANCB"@en, "Fanconi pancytopenia type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111098"^^xsd:string ; a owl:Class ; rdfs:label "Fanconi anemia complementation group B"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_13636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111099 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20."^^xsd:string ; oboInOwl:hasDbXref "OMIM:125850"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetes Mellitus Type 2"@en, "MODY type 1"@en, "MODY1"@en, "mild juvenile diabetes mellitus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111099"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111100 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:125851"^^xsd:string ; oboInOwl:hasExactSynonym "MODY glucokinase-related"@en, "MODY type 2"@en, "MODY2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111100"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111101 obo:IAO_0000115 "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137920"^^xsd:string ; oboInOwl:hasExactSynonym "CAKUT with diabetes"@en, "MODY5"@en, "RCAD"@en, "atypical FJHN"@en, "atypical familial juvenile hyperuricemic nephropathy"@en, "congenital anomalies of the kidney and urinary tract with diabetes"@en, "familial hypoplastic glomerulocystic kidney"@en, "hypoplastic type glomerulocystic kidney disease"@en, "renal cysts and diabetes syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111101"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111102 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600496"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 3"@en, "MODY3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111102"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111103 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606392"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 4"@en, "MODY4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111103"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111104 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606394"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 6"@en, "MODY6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111104"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111105 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609812"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 8"@en, "MODY8"@en, "diabetes and pancreatic exocrine"@en, "maturity-onset diabetes of the young type 8 with exocrine dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111105"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524 . obo:DOID_0111106 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610508"^^xsd:string ; oboInOwl:hasExactSynonym "MODY7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111106"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111107 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612225"^^xsd:string ; oboInOwl:hasExactSynonym "MODY9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111107"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111108 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613370"^^xsd:string ; oboInOwl:hasExactSynonym "MODY10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111108"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111109 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613375"^^xsd:string ; oboInOwl:hasExactSynonym "MODY11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111109"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111110 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616329"^^xsd:string ; oboInOwl:hasExactSynonym "MODY type 13"@en, "MODY13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111110"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111111 obo:IAO_0000115 "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616511"^^xsd:string ; oboInOwl:hasExactSynonym "MODY14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111111"^^xsd:string ; a owl:Class ; rdfs:label "maturity-onset diabetes of the young type 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050524, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111112 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:256100"^^xsd:string ; oboInOwl:hasExactSynonym "NPH1"@en, "NPHP1"@en, "juvenile nephronophthisis 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111112"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111113 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602088"^^xsd:string ; oboInOwl:hasExactSynonym "NPH2"@en, "NPHP2"@en, "infantile nephronophthisis 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111113"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111114 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604387"^^xsd:string ; oboInOwl:hasExactSynonym "NPH3"@en, "NPHP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111114"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111115 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606966"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP4"@en, "juvenile nephronophthisis 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111115"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111116 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611498"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111116"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111117 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613159"^^xsd:string ; oboInOwl:hasExactSynonym "NPHPL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111117"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis-like nephropathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111118 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613550"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111118"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111119 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613820"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111119"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111120 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613824"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111120"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111121 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614377"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111121"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111122 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614844"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111122"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 14"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111123 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614845"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111123"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 15"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111124 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615382"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP16"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111124"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 16"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111125 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615862"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111125"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 18"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111126 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616217"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP19"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111126"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 19"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111127 obo:IAO_0000115 "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617271"^^xsd:string ; oboInOwl:hasExactSynonym "NPHP20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111127"^^xsd:string ; a owl:Class ; rdfs:label "nephronophthisis 20"^^xsd:string ; rdfs:subClassOf obo:DOID_12712 . obo:DOID_0111128 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:603278"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111128"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111129 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:603965"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111129"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111130 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:613237"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111130"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111131 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:614131"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111131"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111132 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of PAX2 on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:616002"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111132"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111133 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:616032"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111133"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111134 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04.1"^^xsd:string, "OMIM:616220"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111134"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111135 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:84"^^xsd:string, "ICD10CM:E88.1"^^xsd:string, "OMIM:608594"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip Congenital Lipodystrophy, Type 1"@en, "Brunzell syndrome AGPAT2-related"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111135"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111136 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10212"^^xsd:string, "ICD10CM:E88.1"^^xsd:string, "OMIM:269700"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip congenital lipodystrophy type 2"@en, "Berardinelli-Seip syndrome"@en, "Brunzell syndrome BSCL2-related"@en, "CGL2"@en, "congenital lipoatrophic diabetes"@en, "total lipodystrophy and acromegaloid gigantism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111136"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111137 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E88.1"^^xsd:string, "OMIM:612526"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip congenital lipodystrophy type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111137"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111138 obo:IAO_0000115 "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10937"^^xsd:string, "ICD10CM:E88.1"^^xsd:string, "OMIM:613327"^^xsd:string, "ORDO:228429"^^xsd:string ; oboInOwl:hasExactSynonym "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy"@en, "congenital generalised lipodystrophy type 4"@en, "generalised congenital lipodystrophy type 4"@en, "generalised congenital lipodystrophy with myopathy"@en, "generalized congenital lipodystrophy type 4"@en, "generalized congenital lipodystrophy with myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111138"^^xsd:string ; a owl:Class ; rdfs:label "congenital generalized lipodystrophy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050585, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111139 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III."^^xsd:string ; oboInOwl:hasDbXref "GARD:8295"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111139"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex III deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0111140 obo:IAO_0000115 "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E03.1"^^xsd:string, "OMIM:300888"^^xsd:string, "ORDO:329235"^^xsd:string ; oboInOwl:hasExactSynonym "CHTE"@en, "X-linked central congenital hypothyroidism with late-onset macroorchidism"@en, "X-linked central congenital hypothyroidism with late-onset testicular enlargement"@en, "central hypothyroidism and testicular enlargement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111140"^^xsd:string ; a owl:Class ; rdfs:label "IGSF1 deficiency syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111141 obo:IAO_0000115 "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time."^^xsd:string ; oboInOwl:hasExactSynonym "DSPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111141"^^xsd:string ; a owl:Class ; rdfs:label "delayed sleep phase syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_535 . obo:DOID_0111142 obo:IAO_0000115 "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons."^^xsd:string ; oboInOwl:hasDbXref "GARD:4066"^^xsd:string, "ICD10CM:Q60.4"^^xsd:string, "ORDO:2260"^^xsd:string ; oboInOwl:hasExactSynonym "Oligomeganephronic renal hypoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111142"^^xsd:string ; a owl:Class ; rdfs:label "oligomeganephronia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080204 . obo:DOID_0111143 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex."^^xsd:string ; oboInOwl:hasDbXref "ORDO:254913"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111143"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_700 . obo:DOID_0111144 obo:IAO_0000115 "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610504"^^xsd:string ; oboInOwl:hasExactSynonym "PPROM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111144"^^xsd:string ; a owl:Class ; rdfs:label "preterm premature rupture of the membranes"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_0111145 obo:IAO_0000115 "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111145"^^xsd:string ; a owl:Class ; rdfs:label "ureteropelvic junction obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_5200 . obo:DOID_0111146 obo:IAO_0000115 "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders."^^xsd:string ; oboInOwl:hasDbXref "GARD:5573"^^xsd:string, "MEDDRA:10069495"^^xsd:string, "ORDO:99147"^^xsd:string, "SNOMEDCT_US_2021_03_01:234451005"^^xsd:string, "UMLS_CUI:C0272362"^^xsd:string ; oboInOwl:hasExactSynonym "AVWS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111146"^^xsd:string ; a owl:Class ; rdfs:label "acquired von Willebrand syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ] . obo:DOID_0111147 obo:IAO_0000115 "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:11973"^^xsd:string, "ICD10CM:C86.5"^^xsd:string, "MEDDRA:10002449"^^xsd:string, "MESH:D007119"^^xsd:string, "NCI:C7528"^^xsd:string, "ORDO:86886"^^xsd:string, "SNOMEDCT_US_2021_03_01:52097008"^^xsd:string, "UMLS_CUI:C0020981"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111147"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "angioimmunoblastic T-cell lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050749 . obo:DOID_0111148 obo:IAO_0000115 "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q12.1"^^xsd:string, "ICD9CM:743.37"^^xsd:string, "MESH:C536184"^^xsd:string, "MESH:D004479"^^xsd:string, "NCI:C125484"^^xsd:string, "ORDO:1885"^^xsd:string, "SNOMEDCT_US_2021_03_01:231976001"^^xsd:string, "UMLS_CUI:C0013581"^^xsd:string, "UMLS_CUI:C2746069"^^xsd:string ; oboInOwl:hasExactSynonym "IEL"@en, "familial ectopia lentis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111148"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "isolated ectopia lentis"^^xsd:string ; rdfs:subClassOf obo:DOID_110 . obo:DOID_0111149 obo:IAO_0000115 "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:225100"^^xsd:string ; oboInOwl:hasExactSynonym "ECTOL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111149"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive isolated ectopia lentis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111148, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111150 obo:IAO_0000115 "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:129600"^^xsd:string, "UMLS_CUI:C1851286"^^xsd:string ; oboInOwl:hasExactSynonym "ECTOL1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111150"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant isolated ectopia lentis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111148, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111151 obo:IAO_0000115 "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000788"^^xsd:string ; oboInOwl:hasExactSynonym "Prinzmetal's angina"@en, "Prinzmetal's variant angina"@en, "angina inversa"@en, "variant angina"@en, "variant angina pectoris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111151"^^xsd:string ; a owl:Class ; rdfs:label "Prinzmetal angina"^^xsd:string ; rdfs:subClassOf obo:DOID_11840 . obo:DOID_0111152 obo:IAO_0000115 "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6."^^xsd:string ; oboInOwl:hasDbXref "GARD:9644"^^xsd:string, "MESH:C537372"^^xsd:string, "NCI:C27855"^^xsd:string, "ORDO:93686"^^xsd:string, "UMLS_CUI:C1334815"^^xsd:string ; oboInOwl:hasExactSynonym "MCD"@en, "PMCD"@en, "multicentric giant lymph node hyperplasia"@en, "plasmablastic multicentric Castleman disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111152"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multicentric Castleman disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0111157 . obo:DOID_0111153 obo:IAO_0000115 "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs."^^xsd:string ; oboInOwl:hasDbXref "ORDO:238722"^^xsd:string ; oboInOwl:hasExactSynonym "familial congenital controlateral synkinesia"@en, "familial congenital mirror movements"@en, "hereditary congenital controlateral synkinesia"@en, "hereditary congenital mirror movements"@en, "isolated congenital controlateral synkinesia"@en, "isolated congenital mirror movements"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111153"^^xsd:string ; a owl:Class ; rdfs:label "congenital mirror movement disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_480, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111154 obo:IAO_0000115 "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9597"^^xsd:string, "ICD10CM:I95.1"^^xsd:string, "MESH:D054972"^^xsd:string, "OMIM:604715"^^xsd:string, "ORDO:443236"^^xsd:string ; oboInOwl:hasExactSynonym "familial orthostatic tachycardia due to norepinephrine transporter deficiency"@en, "irritable heart"@en, "mitral valve prolapse syndrome"@en, "neurocirculatory asthenia"@en, "orhtostatic intolerance"@en, "orthostatic intolerance due to NET deficiency"@en, "postural tachycardia syndrome due to NET deficiency"@en, "soldiers heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111154"^^xsd:string ; a owl:Class ; rdfs:label "postural orthostatic tachycardia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_10273, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111155 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616719"^^xsd:string, "ORDO:466794"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR21"@en, "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"@en, "autosomal recessive spinocerebellar ataxia 21 with hepatopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111155"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111156 obo:IAO_0000115 "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0070175"^^xsd:string ; oboInOwl:hasDbXref "GARD:12502"^^xsd:string, "OMIM:613958"^^xsd:string, "ORDO:171709"^^xsd:string ; oboInOwl:hasExactSynonym "globozoospermia"@en, "male infertility due to globozoospermia"@en, "male infertility due to round-headed spermatozoa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111156"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111157 obo:IAO_0000115 "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically."^^xsd:string ; oboInOwl:hasDbXref "GARD:12656"^^xsd:string, "ICD10CM:D47.Z2"^^xsd:string, "MESH:C536362"^^xsd:string, "MESH:D005871"^^xsd:string, "NCI:C3056"^^xsd:string, "ORDO:160"^^xsd:string, "SNOMEDCT_US_2021_03_01:207036003"^^xsd:string, "UMLS_CUI:C0017531"^^xsd:string, "UMLS_CUI:C2931179"^^xsd:string ; oboInOwl:hasExactSynonym "angiofollicular lymph hyperplasia"@en, "angiofollicular lymph node hyperplasia"@en, "giant lymph node hyperplasia"@en, "lymphoid hamartoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Castleman disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060704 . obo:DOID_0111158 obo:IAO_0000115 "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "GARD:9443"^^xsd:string, "MESH:D000130"^^xsd:string, "OMIM:616482"^^xsd:string, "ORDO:85165"^^xsd:string, "SNOMEDCT_US_2021_03_01:699870002"^^xsd:string, "UMLS_CUI:C2674173"^^xsd:string ; oboInOwl:hasExactSynonym "SADDAN dysplasia"@en, "severe achondroplasia with developmental delay and acanthosis nigricans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111158"^^xsd:string ; a owl:Class ; rdfs:label "SADDAN"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111159 obo:IAO_0000115 "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q."^^xsd:string ; oboInOwl:hasExactSynonym "Chromosome 4, Partial Trisomy 4q"@en, "Distal 4q Trisomy"@en, "Dup(4q) Syndrome, Partial"@en, "Duplication 4q Syndrome, Partial"@en, "Partial Trisomy 4q Syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111159"^^xsd:string ; a owl:Class ; rdfs:label "partial trisomy distal 4q"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_0111160 obo:IAO_0000115 "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537975"^^xsd:string, "OMIM:610474"^^xsd:string, "ORDO:85164"^^xsd:string, "UMLS_CUI:C1864852"^^xsd:string ; oboInOwl:hasExactSynonym "CATSHL syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111160"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "camptodactyly-tall stature-scoliosis-hearing loss syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111161 obo:IAO_0000115 "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612247"^^xsd:string, "ORDO:93262"^^xsd:string ; oboInOwl:hasExactSynonym "CAN"@en, "Crouzon-dermoskeletal syndrome"@en, "Crouzonodermoskeletal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111161"^^xsd:string ; a owl:Class ; rdfs:label "Crouzon syndrome-acanthosis nigricans syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080001, obo:DOID_225, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004766 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111162 obo:IAO_0000115 "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050532"^^xsd:string ; oboInOwl:hasDbXref "OMIM:162900"^^xsd:string ; oboInOwl:hasExactSynonym "nonepidermolytic keratinocytic nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111162"^^xsd:string ; a owl:Class ; rdfs:label "epidermal nevus"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0111163 obo:IAO_0000115 "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565373"^^xsd:string, "OMIM:252160"^^xsd:string, "ORDO:308393"^^xsd:string, "SNOMEDCT_US_2021_03_01:1003368009"^^xsd:string, "UMLS_CUI:C1854989"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD type B"@en, "MOCODB"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B"@en, "molybdenum cofactor deficiency complementation group B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111163"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency type B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111165, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111164 obo:IAO_0000115 "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565372"^^xsd:string, "OMIM:252150"^^xsd:string, "ORDO:308386"^^xsd:string, "SNOMEDCT_US_2021_03_01:1003367004"^^xsd:string, "UMLS_CUI:C1854988"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD type A"@en, "MOCODA"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A"@en, "molybdenum cofactor deficiency complementation group A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111164"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency type A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111165, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111165 obo:IAO_0000115 "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage."^^xsd:string ; oboInOwl:hasDbXref "GARD:3705"^^xsd:string, "ICD10CM:E72.1"^^xsd:string, "OMIM:PS252150"^^xsd:string, "ORDO:99732"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111165"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_0111166 obo:IAO_0000115 "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565374"^^xsd:string, "OMIM:615501"^^xsd:string, "ORDO:308400"^^xsd:string, "SNOMEDCT_US_2021_03_01:1003387003"^^xsd:string, "UMLS_CUI:C1854990"^^xsd:string ; oboInOwl:hasExactSynonym "MOCOD type C"@en, "MOCODC"@en, "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C"@en, "molybdenum cofactor deficiency complementation group C"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111166"^^xsd:string ; a owl:Class ; rdfs:label "molybdenum cofactor deficiency type C"^^xsd:string ; rdfs:subClassOf obo:DOID_0111165, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0001537 ] . obo:DOID_0111167 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:6295"^^xsd:string, "OMIM:223800"^^xsd:string ; oboInOwl:hasExactSynonym "DMC disease"@en, "pseudo-Morquio disease type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111167"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "Dyggve-Melchior-Clausen disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] . obo:DOID_0111168 obo:IAO_0000115 "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency."^^xsd:string ; oboInOwl:hasDbXref "GARD:10365"^^xsd:string, "MESH:C562657"^^xsd:string, "OMIM:612716"^^xsd:string, "ORDO:70594"^^xsd:string, "SNOMEDCT_US_2021_03_01:45116002"^^xsd:string, "UMLS_CUI:C0268468"^^xsd:string ; oboInOwl:hasExactSynonym "DRD due to SRD"@en, "SPR deficiency"@en, "SRD"@en, "dopa-responsive dystonia due to sepiapterin reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111168"^^xsd:string ; a owl:Class ; rdfs:label "sepiapterin reductase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050737, obo:DOID_543, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111169 obo:IAO_0000115 "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054221"^^xsd:string, "NCI:C116933"^^xsd:string, "OMIM:600348"^^xsd:string, "ORDO:99796"^^xsd:string, "UMLS_CUI:C1848201"^^xsd:string ; oboInOwl:hasExactSynonym "HeCo"@en, "band heterotopia"@en, "double cortex syndrome"@en, "heterotopic cortex"@en, "subcortical laminar heterotopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subcortical band heterotopia"^^xsd:string ; rdfs:subClassOf obo:DOID_2490 . obo:DOID_0111170 obo:IAO_0000115 "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608984"^^xsd:string ; oboInOwl:hasExactSynonym "ADSA"@en, "SNAX1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111170"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant sensory ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050951, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111180 obo:IAO_0000115 "A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:8370"^^xsd:string, "MESH:C537004"^^xsd:string, "OMIM:220111"^^xsd:string, "ORDO:70472"^^xsd:string, "SNOMEDCT_US_2021_03_01:718219002"^^xsd:string, "UMLS_CUI:C1857355"^^xsd:string ; oboInOwl:hasExactSynonym "French Canadian type COX deficiency"@en, "French Canadian type Leigh syndrome"@en, "French Canadian type cytochrome c oxidase deficiency"@en, "Saguenay Lac saint Jean type COX deficiency"@en, "Saguenay Lac saint Jean type Leigh syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111180"^^xsd:string ; a owl:Class ; rdfs:label "French Canadian Leigh disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3652 . obo:DOID_0111181 obo:IAO_0000115 "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:2638"^^xsd:string, "OMIM:141500"^^xsd:string ; oboInOwl:hasExactSynonym "FHM1"@en, "MHP1"@en, "familial hemiplegic migraine1 with progressive cerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111181"^^xsd:string ; a owl:Class ; rdfs:label "familial hemiplegic migraine 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060178 . obo:DOID_0111182 obo:IAO_0000115 "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10095"^^xsd:string, "OMIM:602481"^^xsd:string ; oboInOwl:hasExactSynonym "FHM2"@en, "Familial hemiplegic migraine-2"@en, "MHP2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111182"^^xsd:string ; a owl:Class ; rdfs:label "familial hemiplegic migraine 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060178 . obo:DOID_0111183 obo:IAO_0000115 "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10974"^^xsd:string, "OMIM:609634"^^xsd:string ; oboInOwl:hasExactSynonym "FHM3"@en, "MHP3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111183"^^xsd:string ; a owl:Class ; rdfs:label "familial hemiplegic migraine 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0060178 . obo:DOID_0111184 obo:IAO_0000115 "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500011"^^xsd:string ; oboInOwl:hasExactSynonym "MLASA3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111184"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080099 . obo:DOID_0111185 obo:IAO_0000115 "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600462"^^xsd:string ; oboInOwl:hasExactSynonym "MLASA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111185"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080099 . obo:DOID_0111186 obo:IAO_0000115 "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613561"^^xsd:string ; oboInOwl:hasExactSynonym "MLASA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111186"^^xsd:string ; a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080099 . obo:DOID_0111187 obo:IAO_0000115 "A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606768"^^xsd:string, "ORDO:178400"^^xsd:string ; oboInOwl:hasExactSynonym "DMAT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111187"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy with anterior tibial onset"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111188 obo:IAO_0000115 "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:12591"^^xsd:string, "OMIM:603689"^^xsd:string, "ORDO:178464"^^xsd:string ; oboInOwl:hasExactSynonym "Edstrom myopathy"@en, "HIBM-ERF"@en, "HMERF"@en, "Hereditary inclusion body myopathy with early respiratory failure"@en, "MFM-titinopathy"@en, "MFM9"@en, "MPRM"@en, "Myofibrillar myopathy-titinopathy"@en, "autosomal dominant distal myopathy with early respiratory failure"@en, "hereditary myopathy with early respiratory failure"@en, "myofibrillar myopathy 9 with early respiratory failure"@en, "proximal myopathy with early respiratory muscle involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111188"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111189 obo:IAO_0000115 "A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610099"^^xsd:string, "ORDO:399086"^^xsd:string ; oboInOwl:hasExactSynonym "MPD3"@en, "distal myopathy 3"@en, "distal myopathy type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111189"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111190 obo:IAO_0000115 "A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614065"^^xsd:string, "ORDO:63273"^^xsd:string ; oboInOwl:hasExactSynonym "MPD4"@en, "distal ABD-filaminopathy"@en, "distal myopathy 4"@en, "distal myopathy with posterior leg and anterior hand involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111190"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111191 obo:IAO_0000115 "A distal muscular dystrophy that has_material_basis_in heterozygous mutation in CAV3 on 3p25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614321"^^xsd:string, "ORDO:488650"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111191"^^xsd:string ; a owl:Class ; rdfs:label "distal muscular dystrophy Tateyama type"^^xsd:string ; rdfs:subClassOf obo:DOID_11720 . obo:DOID_0111192 obo:IAO_0000115 "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158900"^^xsd:string ; oboInOwl:hasExactSynonym "FSHD1"@en, "facioscapulohumeral muscular dystrophy type 1"@en, "facioscapulohumeral muscular dystrophy type 1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111192"^^xsd:string ; a owl:Class ; rdfs:label "facioscapulohumeral muscular dystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_11727 . obo:DOID_0111193 obo:IAO_0000115 "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158901"^^xsd:string ; oboInOwl:hasExactSynonym "FSHD2"@en, "facioscapulohumeral muscular dystrophy 1B"@en, "facioscapulohumeral muscular dystrophy type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111193"^^xsd:string ; a owl:Class ; rdfs:label "facioscapulohumeral muscular dystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_11727, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0111194 obo:IAO_0000115 "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:182980"^^xsd:string, "ORDO:209335"^^xsd:string ; oboInOwl:hasExactSynonym "Finkel disease"@en, "Finkel late-adult type SMA"@en, "SMAFK"@en, "autosomal dominant adult proximal spinal muscular atrophy"@en, "autosomal dominant adult-onset proximal SMA"@en, "autosomal dominant late-onset spinal muscular atrophy, Finkel type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111194"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant adult-onset proximal spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111195 obo:IAO_0000115 "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:133200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111195"^^xsd:string ; a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050467, obo:DOID_0050736, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111196 obo:IAO_0000115 "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564506"^^xsd:string, "OMIM:300489"^^xsd:string, "ORDO:139557"^^xsd:string, "UMLS_CUI:C1845359"^^xsd:string ; oboInOwl:hasExactSynonym "ATP7A-related distal motor neuropathy"@en, "DSMAX"@en, "SMAX3"@en, "X-linked dHMN3"@en, "X-linked dSMA3"@en, "X-linked distal hereditary motor neuropathy type 3"@en, "X-linked recessive distal spinal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111196"^^xsd:string ; a owl:Class ; rdfs:label "X-linked distal spinal muscular atrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111197 obo:IAO_0000115 "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "ORDO:140468"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive distal spinal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111197"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive distal hereditary motor neuronopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111198 obo:IAO_0000115 "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "ORDO:140465"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant dHMN"@en, "autosomal dominant distal hereditary motor neuropathy"@en, "autosomal dominant distal spinal muscular atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111198"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant distal hereditary motor neuronopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111199 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis."^^xsd:string ; oboInOwl:hasDbXref "ORDO:139589"^^xsd:string ; oboInOwl:hasExactSynonym "DHMNVPy"@en, "dHMN7"@en, "distal spinal muscular atrophy with vocal cord paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111199"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111200 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566675"^^xsd:string, "NCI:C132826"^^xsd:string, "OMIM:182960"^^xsd:string, "ORDO:139518"^^xsd:string, "UMLS_CUI:C1866784"^^xsd:string ; oboInOwl:hasExactSynonym "HMN I"@en, "autosomal dominant distal juvenile spinal muscular atrophy type 1"@en, "dHMN1"@en, "distal hereditary motor neuropathy type I"@en, "spinal Charcot-Marie-Tooth disease 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111200"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111201 obo:IAO_0000115 "A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158580"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN7A"@en, "HMN VIIA"@en, "HMN7A"@en, "Harper-Young myopath"@en, "distal hereditary motor neuropathy type VIIA"@en, "distal spinal muscular atrophy with vocal cord paralysis type 7A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111201"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 7A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111199, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111202 obo:IAO_0000115 "A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in DCTN1 on 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607641"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN7B"@en, "HMN VIIB"@en, "HMN7B"@en, "Harper-Young myopathy"@en, "distal hereditary motor neuropathy type VIIB"@en, "distal spinal muscular atrophy with vocal cord paralysis type 7B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111202"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 7B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111199 . obo:DOID_0111203 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences."^^xsd:string ; oboInOwl:hasDbXref "ORDO:139536"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN5"@en, "DSMAV"@en, "HMN5"@en, "distal HMN V"@en, "distal hereditary motor neuropathy type V"@en, "distal spinal muscular atrophy type V"@en, "distal spinal muscular atrophy with upper limb predominance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111203"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111204 obo:IAO_0000115 "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563443"^^xsd:string, "OMIM:600794"^^xsd:string, "UMLS_CUI:C1833308"^^xsd:string ; oboInOwl:hasExactSynonym "distal HMN VA"@en, "distal spinal muscular atrophy type VA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111204"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 5A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111203 . obo:DOID_0111205 obo:IAO_0000115 "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614751"^^xsd:string ; oboInOwl:hasExactSynonym "distal HMN VB"@en, "distal spinal muscular atrophy type VB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111205"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 5B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111203 . obo:DOID_0111206 obo:IAO_0000115 "An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness."^^xsd:string ; oboInOwl:hasDbXref "MESH:C580044"^^xsd:string, "ORDO:139525"^^xsd:string, "UMLS_CUI:C3711384"^^xsd:string ; oboInOwl:hasExactSynonym "HMN II"@en, "HMN2"@en, "distal hereditary motor neuropathy type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111206"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111207 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608634"^^xsd:string ; oboInOwl:hasExactSynonym "HMN IIB"@en, "HMN2B"@en, "distal hereditary motor neuropathy type IIB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111207"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuropathy type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111208 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:158590"^^xsd:string ; oboInOwl:hasExactSynonym "HMN IIA"@en, "HMN2A"@en, "autosomal dominant adult spinal muscular atrophy IIA"@en, "distal hereditary motor neuropathy type IIA"@en, "spinal Charcot-Marie-Tooth disease IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111208"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111209 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB3 on 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613376"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN2C"@en, "HMN IIC"@en, "HMN2C"@en, "distal hereditary motor neuropathy type IIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111209"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2C"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111210 obo:IAO_0000115 "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615575"^^xsd:string ; oboInOwl:hasExactSynonym "HMN IID"@en, "HMN2D"@en, "distal hereditary motor neuropathy type IID"@en, "distal spinal muscular atrophy with calf predominance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111210"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 2D"^^xsd:string ; rdfs:subClassOf obo:DOID_0111206 . obo:DOID_0111211 obo:IAO_0000115 "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564626"^^xsd:string, "OMIM:607088"^^xsd:string, "ORDO:139547"^^xsd:string, "UMLS_CUI:C1846823"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive distal spinal muscular atrophy type 3"@en, "dHMN3 and dHMN4"@en, "dSMA3"@en, "distal hereditary motor neuropathy type 3 and type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111211"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111212 obo:IAO_0000115 "An autosomal domiant distal hereditary motor neuronopathy characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in WARS on 14q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617721"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN9"@en, "HMN9"@en, "distal hereditary motor neuropathy type IX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111212"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111213 obo:IAO_0000115 "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567023"^^xsd:string, "OMIM:611067"^^xsd:string, "ORDO:206580"^^xsd:string, "UMLS_CUI:C1970211"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA4"@en, "autosomal recessive distal spinal muscular atrophy type 4"@en, "autosomal recessive lower motor neuron disease with childhood onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111213"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111214 obo:IAO_0000115 "A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614881"^^xsd:string, "ORDO:314485"^^xsd:string ; oboInOwl:hasExactSynonym "DSMA5"@en, "autosomal recessive distal spinal muscular atrophy type 5"@en, "young adult-onset dHMN"@en, "young adult-onset distal hereditary motor neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111214"^^xsd:string ; a owl:Class ; rdfs:label "distal spinal muscular atrophy type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111197, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111215 obo:IAO_0000115 "A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600175"^^xsd:string ; oboInOwl:hasExactSynonym "DHMN8"@en, "HMN8"@en, "autosomal dominant benign distal spinal muscular atrophy"@en, "autosomal dominant congenital benign spinal muscular atrophy"@en, "congenital benign spinal muscular atrophy with contractures"@en, "congenital nonprogressive spinal muscular atrophy"@en, "distal hereditary motor neuropathy type VIII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111215"^^xsd:string ; a owl:Class ; rdfs:label "distal hereditary motor neuronopathy type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0111198, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111216 obo:IAO_0000115 "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:12718"^^xsd:string, "ORDO:169186"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CNM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111216"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive centronuclear myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14717, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111217 obo:IAO_0000115 "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:12719"^^xsd:string, "ICD10CM:G71.228"^^xsd:string, "MESH:D020914"^^xsd:string, "ORDO:169189"^^xsd:string, "SNOMEDCT_US_2021_03_01:716696006"^^xsd:string, "UMLS_CUI:C1834558"^^xsd:string ; oboInOwl:hasExactSynonym "AD-CNM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111217"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant centronuclear myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14717, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111218 obo:IAO_0000115 "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:229300"^^xsd:string ; oboInOwl:hasExactSynonym "FA1"@en, "FRDA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111218"^^xsd:string ; a owl:Class ; rdfs:label "Friedreich ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_12705 . obo:DOID_0111219 obo:IAO_0000115 "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601992"^^xsd:string ; oboInOwl:hasExactSynonym "FRDA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111219"^^xsd:string ; a owl:Class ; rdfs:label "Friedreich ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_12705 . obo:DOID_0111220 obo:IAO_0000115 "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562934"^^xsd:string, "OMIM:255200"^^xsd:string, "SNOMEDCT_US_2021_03_01:240081004"^^xsd:string, "UMLS_CUI:C0410204"^^xsd:string ; oboInOwl:hasExactSynonym "CNM2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111220"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111216 . obo:DOID_0111221 obo:IAO_0000115 "A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617760"^^xsd:string ; oboInOwl:hasExactSynonym "CNM6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111221"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 6 with fiber-type disproportion"^^xsd:string ; rdfs:subClassOf obo:DOID_0080102 . obo:DOID_0111222 obo:IAO_0000115 "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615959"^^xsd:string ; oboInOwl:hasExactSynonym "CNM5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111222"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111216 . obo:DOID_0111223 obo:IAO_0000115 "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:160150"^^xsd:string ; oboInOwl:hasExactSynonym "CNM1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111223"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111217, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_0111224 obo:IAO_0000115 "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614807"^^xsd:string ; oboInOwl:hasExactSynonym "CNM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111224"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111217 . obo:DOID_0111225 obo:IAO_0000115 "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:11925"^^xsd:string, "ICD10CM:G71.220"^^xsd:string, "MESH:D020914"^^xsd:string, "NCI:C118781"^^xsd:string, "OMIM:310400"^^xsd:string, "ORDO:596"^^xsd:string, "SNOMEDCT_US_2021_03_01:46804001"^^xsd:string, "UMLS_CUI:C0410203"^^xsd:string ; oboInOwl:hasExactSynonym "CNMX"@en, "MTM1"@en, "X-linked myotubular myopathy"@en, "XLCNM"@en, "XLMTM"@en, "myotubular myopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111225"^^xsd:string ; a owl:Class ; rdfs:label "centronuclear myopathy X-linked"^^xsd:string ; rdfs:subClassOf obo:DOID_14717 . obo:DOID_0111226 obo:IAO_0000115 "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300580"^^xsd:string ; oboInOwl:hasExactSynonym "CFTDX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111226"^^xsd:string ; a owl:Class ; rdfs:label "X-linked congenital myopathy with fiber-type disproportion"^^xsd:string ; rdfs:subClassOf obo:DOID_0080102, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000706 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111227 obo:IAO_0000115 "A frontotemporal dementia that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0060208"^^xsd:string ; oboInOwl:hasDbXref "OMIM:600795"^^xsd:string ; oboInOwl:hasExactSynonym "CHMP2B-related frontotemporal dementia"^^xsd:string, "FTD3"@en, "amyotrophic lateral sclerosis type 17"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111227"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 3-linked frontotemporal dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_9255 . obo:DOID_0111228 obo:IAO_0000115 "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous muation in TEAD1 on 11p15.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566236"^^xsd:string, "OMIM:108985"^^xsd:string, "ORDO:86813"^^xsd:string, "SNOMEDCT_US_2021_03_01:724384008"^^xsd:string, "UMLS_CUI:C1862382"^^xsd:string ; oboInOwl:hasExactSynonym "HPCD"@en, "SCRA"@en, "atrophia areata"@en, "helicoid peripapillary chorioretinal degeneration"@en, "peripapillary chorioretinal degeneration, Icelandic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111228"^^xsd:string ; a owl:Class ; rdfs:label "Sveinsson chorioretinal atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_0111229 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS236670"^^xsd:string, "ORDO:352687"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA"@en, "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies"@en, "klissencephaly type 2 with muscular and ocular involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111229"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050588, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111230 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615181"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA11"@en, "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111230"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A11"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111231 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614830"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA8"@en, "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111231"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A8"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111232 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616538"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA9"@en, "Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111232"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A9"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111233 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615350"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA14"@en, "Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111233"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy A14"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111234 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614643"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA7"@en, "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111234"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy A7"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111235 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615249"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA12"@en, "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111235"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A12"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111236 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:253280"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA3"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111236"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111237 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236670"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA1"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111237"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111238 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615287"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA13"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111238"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A13"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111239 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615041"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA10"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111239"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A10"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111240 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613150"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA2"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111240"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111241 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613153"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA5"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111241"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111242 obo:IAO_0000115 "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613154"^^xsd:string ; oboInOwl:hasExactSynonym "MDDGA6"@en, "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related"@en, "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111242"^^xsd:string ; a owl:Class ; rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A6"^^xsd:string ; rdfs:subClassOf obo:DOID_0111229, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111243 obo:IAO_0000115 "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7"^^xsd:string, "MESH:C535662"^^xsd:string, "OMIM:102370"^^xsd:string, "ORDO:969"^^xsd:string, "SNOMEDCT_US_2021_03_01:254090007"^^xsd:string, "UMLS_CUI:C0265287"^^xsd:string ; oboInOwl:hasExactSynonym "ACMICD"@en, "acromicric skeletal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111243"^^xsd:string ; a owl:Class ; rdfs:label "acromicric dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0111244 obo:IAO_0000115 "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:604"^^xsd:string, "MESH:C537050"^^xsd:string, "OMIM:104100"^^xsd:string, "ORDO:1010"^^xsd:string, "UMLS_CUI:C1863093"^^xsd:string ; oboInOwl:hasExactSynonym "PPK-CA, Stevanovic type"@en, "PPKCA Stevanovic type"@en, "PPKCA1"@en, "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia"@en, "autosomal dominant palmoplantar keratoderma and congenital alopecia"@en, "keratoderma-hypotrichosis-leukonychia totalis syndrome"@en, "palmoplantar keratoderma and congenital alopecia, Stevanovic type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111244"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma and congenital alopecia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111245 obo:IAO_0000115 "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535336"^^xsd:string, "OMIM:212360"^^xsd:string, "ORDO:1366"^^xsd:string, "UMLS_CUI:C1859316"^^xsd:string ; oboInOwl:hasExactSynonym "CASS"@en, "PPK-CA, Wallis type"@en, "PPKCA Wallis type"@en, "PPKCA2"@en, "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia"@en, "autosomal recessive palmoplantar keratoderma and congenital alopecia"@en, "cataract-alopecia-sclerodactyly syndrome"@en, "palmoplantar keratoderma and congenital alopecia, Wallis type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111245"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma and congenital alopecia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111246 obo:IAO_0000115 "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9239"^^xsd:string, "MESH:D000690"^^xsd:string, "OMIM:105500"^^xsd:string, "ORDO:90020"^^xsd:string, "SNOMEDCT_US_2021_03_01:838276009"^^xsd:string, "UMLS_CUI:C0543859"^^xsd:string ; oboInOwl:hasExactSynonym "ALS-PDC"@en, "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome"@en, "Guam disease"@en, "Lytico-Bodig disease"@en, "PDALS"@en, "amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam"@en, "parkinsonism-dementia-ALS complex"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111246"^^xsd:string ; a owl:Class ; rdfs:label "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_0111247 obo:IAO_0000115 "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:967"^^xsd:string, "MESH:C537095"^^xsd:string, "OMIM:112410"^^xsd:string, "ORDO:1276"^^xsd:string, "SNOMEDCT_US_2021_03_01:720568003"^^xsd:string, "UMLS_CUI:C1862170"^^xsd:string ; oboInOwl:hasExactSynonym "Bilginturan brachydactyly"@en, "Bilginturan syndrome"@en, "HTNB"@en, "brachydactyly with hypertension"@en, "type E brachydactyly with short stature and hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111247"^^xsd:string ; a owl:Class ; rdfs:label "hypertension and brachydactyly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111248 obo:IAO_0000115 "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6026"^^xsd:string, "MESH:C562538"^^xsd:string, "OMIM:117650"^^xsd:string, "ORDO:1393"^^xsd:string, "SNOMEDCT_US_2021_03_01:51780007"^^xsd:string, "UMLS_CUI:C0265342"^^xsd:string ; oboInOwl:hasExactSynonym "CCM syndrome"@en, "CCMS"@en, "cerebro-costo-mandibular syndrome"@en, "rib gap defects with micrognathia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111248"^^xsd:string ; a owl:Class ; rdfs:label "cerebrocostomandibular syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111249 obo:IAO_0000115 "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:1440"^^xsd:string, "MESH:C535971"^^xsd:string, "OMIM:120433"^^xsd:string, "ORDO:1473"^^xsd:string, "UMLS_CUI:C0795902"^^xsd:string ; oboInOwl:hasExactSynonym "COB1"@en, "Uveal coloboma-cleft lip/palate-mental retardation syndrome"@en, "coloboma-microphthalmos syndrome"@en, "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate"@en, "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111249"^^xsd:string ; a owl:Class ; rdfs:label "uveal coloboma-cleft lip and palate-intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111250 obo:IAO_0000115 "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602404"^^xsd:string ; oboInOwl:hasExactSynonym "PARK3"@en, "Parkinson disease 3"@en, "autosomal dominant Lewy body Parkinson disease 3"@en, "autosomal dominant Parkinson disease 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111250"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111251 obo:IAO_0000115 "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616361"^^xsd:string ; oboInOwl:hasExactSynonym "PARK21"@en, "Parkinson disease 21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111251"^^xsd:string ; a owl:Class ; rdfs:label "Parkinson's disease 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060892, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111252 obo:IAO_0000115 "A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has_material_basis_in heterozygous of mutation in NF2 on 22q12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7193"^^xsd:string, "ICD10CM:Q85.02"^^xsd:string, "ICD9CM:237.72"^^xsd:string, "MESH:D016518"^^xsd:string, "NCI:C3274"^^xsd:string, "OMIM:101000"^^xsd:string, "ORDO:637"^^xsd:string, "SNOMEDCT_US_2021_03_01:700060008"^^xsd:string, "UMLS_CUI:C0027832"^^xsd:string ; oboInOwl:hasExactSynonym "ACN"@en, "BANF"@en, "NF2"@en, "bilateral acoustic neurinoma"@en, "bilateral acoustic neurofibromatosis"@en, "bilateral acoustic schwannomas"@en, "central neurofibromatosis"@en, "familial acoustic neuromas"@en, "neurofibromatosis type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111252"^^xsd:string ; a owl:Class ; rdfs:label "neurofibromatosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_8712, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111253 obo:IAO_0000115 "A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q85.01"^^xsd:string, "ICD9CM:237.71"^^xsd:string, "MESH:D009456"^^xsd:string, "NCI:C3273"^^xsd:string, "OMIM:162200"^^xsd:string, "OMIM:162210"^^xsd:string, "ORDO:636"^^xsd:string, "SNOMEDCT_US_2021_03_01:92824003"^^xsd:string, "UMLS_CUI:C0027831"^^xsd:string ; oboInOwl:hasExactSynonym "FSNF"@en, "NF1"@en, "Peripheral Neurofibromatosis"@en, "familial spinal neurofibromatosis"@en, "neurofibromatosis type I"@en, "von Recklinghausen Disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111253"^^xsd:string ; a owl:Class ; rdfs:label "neurofibromatosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_8712, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111254 obo:IAO_0000115 "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6522"^^xsd:string, "MESH:C536833"^^xsd:string, "OMIM:231670"^^xsd:string, "ORDO:25"^^xsd:string ; oboInOwl:hasExactSynonym "GA1"@en, "glutaric academia type 1"@en, "glutaric aciduria 1"@en, "glutaric aciduria type I"@en, "glutaryl-coA dehydrogenase deficiency"@en, "glutaryl-coenzyme A dehydrogenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111254"^^xsd:string ; a owl:Class ; rdfs:label "glutaric acidemia I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060159, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111255 obo:IAO_0000115 "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3427"^^xsd:string, "MEDDRA:10052312"^^xsd:string, "MESH:C538159"^^xsd:string, "OMIM:236700"^^xsd:string, "ORDO:2473"^^xsd:string, "SNOMEDCT_US_2021_03_01:702407009"^^xsd:string, "UMLS_CUI:C0948368"^^xsd:string ; oboInOwl:hasExactSynonym "HMCS"@en, "Kaufman McKusick syndrome"@en, "MKKS"@en, "hydrometrocolpos syndrome"@en, "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation"@en, "hydrometrocolpos-postaxial polydactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111255"^^xsd:string ; a owl:Class ; rdfs:label "McKusick-Kaufman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111256 obo:IAO_0000115 "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:2806"^^xsd:string, "MESH:C538137"^^xsd:string, "OMIM:600886"^^xsd:string, "ORDO:163"^^xsd:string, "SNOMEDCT_US_2021_03_01:702398007"^^xsd:string, "UMLS_CUI:C1833213"^^xsd:string ; oboInOwl:hasExactSynonym "Bonneau-Beaumont syndrome"@en, "HHCS"@en, "HRFTC"@en, "cataract-hyperferritinemia syndrome"@en, "hereditary hyperferritinemia with congenital cataracts"@en, "hereditary hyperferritinemia-cataract syndrome"@en, "hyperferritinemia with or without cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111256"^^xsd:string ; a owl:Class ; rdfs:label "hyperferritinemia-cataract syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111257 obo:IAO_0000115 "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:10099"^^xsd:string, "MESH:C536836"^^xsd:string, "OMIM:231950"^^xsd:string, "ORDO:33573"^^xsd:string, "SNOMEDCT_US_2021_03_01:78586005"^^xsd:string, "UMLS_CUI:C0268524"^^xsd:string ; oboInOwl:hasExactSynonym "GGT deficiency"@en, "GGT1 deficiency"@en, "GTG deficiency"@en, "gamma-glutamyl transferase deficiency"@en, "glutathionuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111257"^^xsd:string ; a owl:Class ; rdfs:label "gamma-glutamyl transpeptidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111258 obo:IAO_0000115 "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:418"^^xsd:string, "ICD10CM:E74.89"^^xsd:string, "MEDDRA:10064170"^^xsd:string, "MESH:C536652"^^xsd:string, "OMIM:260800"^^xsd:string, "ORDO:2843"^^xsd:string, "SNOMEDCT_US_2021_03_01:190764000"^^xsd:string, "UMLS_CUI:C0268162"^^xsd:string ; oboInOwl:hasExactSynonym "L-xylulose reductase deficiency"@en, "L-xylulosuria"@en, "PNTSU"@en, "essential pentosuria"@en, "xylitol dehydrogenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111258"^^xsd:string ; a owl:Class ; rdfs:label "pentosuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111259 obo:IAO_0000115 "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8410"^^xsd:string, "MESH:C537680"^^xsd:string, "OMIM:263750"^^xsd:string, "ORDO:246"^^xsd:string, "SNOMEDCT_US_2021_03_01:66038001"^^xsd:string, "UMLS_CUI:C0265257"^^xsd:string ; oboInOwl:hasExactSynonym "Miller syndrome"@en, "POADS"@en, "Postaxial acrodysostosis"@en, "acrofacial dysostosis, Genee-Wiedmann type"@en, "mandibulfacial dysostosis with postaxial limb anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111259"^^xsd:string ; a owl:Class ; rdfs:label "postaxial acrofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111260 obo:IAO_0000115 "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567064"^^xsd:string, "OMIM:300661"^^xsd:string, "ORDO:3222"^^xsd:string, "SNOMEDCT_US_2021_03_01:723454008"^^xsd:string, "UMLS_CUI:C1970827"^^xsd:string ; oboInOwl:hasExactSynonym "PRPP synthetase superactivity"@en, "PRPS1 superactivity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111260"^^xsd:string ; a owl:Class ; rdfs:label "phosphoribosylpyrophosphate synthetase superactivity"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111261 obo:IAO_0000115 "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43."^^xsd:string ; oboInOwl:hasDbXref "GARD:6476"^^xsd:string, "MESH:C538191"^^xsd:string, "OMIM:606812"^^xsd:string, "ORDO:24"^^xsd:string, "SNOMEDCT_US_2021_03_01:237983002"^^xsd:string, "UMLS_CUI:C0342770"^^xsd:string, "UMLS_CUI:C2936826"^^xsd:string ; oboInOwl:hasExactSynonym "FMRD"@en, "fumaric aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111261"^^xsd:string ; a owl:Class ; rdfs:label "fumarase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111262 obo:IAO_0000115 "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:10995"^^xsd:string, "OMIM:613668"^^xsd:string, "ORDO:402364"^^xsd:string ; oboInOwl:hasExactSynonym "postnatal progressive microcephaly, seizures, and brain atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111262"^^xsd:string ; a owl:Class ; rdfs:label "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111263 obo:IAO_0000115 "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10818"^^xsd:string, "MESH:C580002"^^xsd:string, "OMIM:614265"^^xsd:string, "ORDO:289504"^^xsd:string, "SNOMEDCT_US_2021_03_01:702365002"^^xsd:string, "UMLS_CUI:C3280314"^^xsd:string ; oboInOwl:hasExactSynonym "CMAMMA"@en, "combined malonic and methylmalonic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111263"^^xsd:string ; a owl:Class ; rdfs:label "combined malonic and methylmalonic acidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060159, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111264 obo:IAO_0000115 "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616200"^^xsd:string, "ORDO:435953"^^xsd:string ; oboInOwl:hasExactSynonym "progeroid features-hepatocellular carcinoma predisposition syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111264"^^xsd:string ; a owl:Class ; rdfs:label "Ruijs-Aalfs syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111265 obo:IAO_0000115 "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:944"^^xsd:string, "MESH:C565850"^^xsd:string, "OMIM:215470"^^xsd:string, "ORDO:1180"^^xsd:string, "SNOMEDCT_US_2021_03_01:715984007"^^xsd:string, "UMLS_CUI:C1859093"^^xsd:string ; oboInOwl:hasExactSynonym "ataxia-hypogonadism-choroidal dystrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111265"^^xsd:string ; a owl:Class ; rdfs:label "Boucher-Neuhauser syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111266 obo:IAO_0000115 "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:413"^^xsd:string, "MESH:C537799"^^xsd:string, "OMIM:231070"^^xsd:string, "ORDO:2078"^^xsd:string, "SNOMEDCT_US_2021_03_01:254116003"^^xsd:string, "UMLS_CUI:C0432255"^^xsd:string ; oboInOwl:hasExactSynonym "GO"@en, "Walt Disney dwarfism"@en, "geroderma osteodysplastica"@en, "gerodermia osteodysplastica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111266"^^xsd:string ; a owl:Class ; rdfs:label "geroderma osteodysplasticum"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111267 obo:IAO_0000115 "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7148"^^xsd:string, "ORDO:53698"^^xsd:string ; oboInOwl:hasExactSynonym "myosin storage myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111267"^^xsd:string ; a owl:Class ; rdfs:label "hyaline body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080100 . obo:DOID_0111268 obo:IAO_0000115 "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:255160"^^xsd:string ; oboInOwl:hasExactSynonym "MSMB"@en, "Myopathy, myosin storage, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111268"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive hyaline body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111267, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111269 obo:IAO_0000115 "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608358"^^xsd:string ; oboInOwl:hasExactSynonym "MSMA"@en, "Myopathy, myosin storage, autosomal dominant"@en, "myopathy with lysis of type I myofibrils"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111269"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant hyaline body myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111267, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111270 obo:IAO_0000115 "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5062"^^xsd:string, "ICD10CM:E72.19"^^xsd:string, "MESH:C538141"^^xsd:string, "OMIM:272300"^^xsd:string, "ORDO:99731"^^xsd:string, "SNOMEDCT_US_2021_03_01:237935000"^^xsd:string, "SNOMEDCT_US_2021_03_01:40873003"^^xsd:string, "UMLS_CUI:C0268624"^^xsd:string, "UMLS_CUI:C2931746"^^xsd:string ; oboInOwl:hasExactSynonym "sulfocysteinuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111270"^^xsd:string ; a owl:Class ; rdfs:label "isolated sulfite oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111271 obo:IAO_0000115 "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5266"^^xsd:string, "MESH:C536554"^^xsd:string, "OMIM:275400"^^xsd:string, "ORDO:3363"^^xsd:string, "SNOMEDCT_US_2021_03_01:719944006"^^xsd:string, "UMLS_CUI:C1848745"^^xsd:string ; oboInOwl:hasExactSynonym "OMCS"@en, "eyelashes long mental retardation"@en, "long eyelashes-intellectual disability syndrome"@en, "trichomegaly-retina pigmentary degeneration-dwarfism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111271"^^xsd:string ; a owl:Class ; rdfs:label "Oliver-McFarlane syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111272 obo:IAO_0000115 "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease."^^xsd:string ; oboInOwl:hasDbXref "GARD:4017"^^xsd:string, "MESH:C537860"^^xsd:string, "OMIM:304150"^^xsd:string, "ORDO:198"^^xsd:string, "SNOMEDCT_US_2021_03_01:59399004"^^xsd:string, "UMLS_CUI:C0268353"^^xsd:string ; oboInOwl:hasExactSynonym "EDS IX"@en, "Ehlers-Danlos syndrome type 9"@en, "Ehlers-Danlos syndrome type IX"@en, "X-linked cutis laxa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111272"^^xsd:string ; a owl:Class ; rdfs:label "occipital horn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_896, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111273 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."^^xsd:string ; oboInOwl:hasDbXref "MEDDRA:10062940"^^xsd:string, "MESH:C537396"^^xsd:string, "OMIM:551500"^^xsd:string, "ORDO:644"^^xsd:string, "SNOMEDCT_US_2021_03_01:237984008"^^xsd:string, "UMLS_CUI:C1328349"^^xsd:string ; oboInOwl:hasExactSynonym "Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome"@en, "Neuropathy-ataxia-retinitis pigmentosa syndrome"@en, "neuropathy, ataxia and retinitis pigmentosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111273"^^xsd:string ; a owl:Class ; rdfs:comment "GARD:262"^^xsd:string ; rdfs:label "NARP syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111274 obo:IAO_0000115 "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1418"^^xsd:string, "MESH:C536434"^^xsd:string, "NCI:C126744"^^xsd:string, "OMIM:600373"^^xsd:string, "ORDO:1458"^^xsd:string, "SNOMEDCT_US_2021_03_01:717772000"^^xsd:string, "UMLS_CUI:C1838180"^^xsd:string ; oboInOwl:hasExactSynonym "cerebral, ocular, dental, auricular, and skeletal syndrome"@en, "cerebro-oculo-dento-auriculo-skeletal syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111274"^^xsd:string ; a owl:Class ; rdfs:label "CODAS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111275 obo:IAO_0000115 "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12889"^^xsd:string, "OMIM:602081"^^xsd:string, "ORDO:209908"^^xsd:string ; oboInOwl:hasExactSynonym "CAS"@en, "articulatory apraxia"@en, "childhood apraxia of speech"@en, "developmental apraxia of speech"@en, "developmental verbal dyspraxia"@en, "speech and language disorder with orofacial dyspraxia"@en, "speech-language disorder type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111275"^^xsd:string ; a owl:Class ; rdfs:label "speech-language disorder-1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_92, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111276 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537583"^^xsd:string, "OMIM:607459"^^xsd:string, "ORDO:70595"^^xsd:string, "UMLS_CUI:C1843851"^^xsd:string ; oboInOwl:hasExactSynonym "SANDO"@en, "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111276"^^xsd:string ; a owl:Class ; rdfs:label "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111277 obo:IAO_0000115 "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3684"^^xsd:string, "MESH:C566945"^^xsd:string, "NCI:C98991"^^xsd:string, "OMIM:609015"^^xsd:string, "ORDO:746"^^xsd:string, "SNOMEDCT_US_2021_03_01:237999008"^^xsd:string, "UMLS_CUI:C1969443"^^xsd:string ; oboInOwl:hasExactSynonym "MTPD"@en, "TFP deficiency"@en, "TFPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111277"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial trifunctional protein deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000580 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003756 ] . obo:DOID_0111278 obo:IAO_0000115 "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome."^^xsd:string ; oboInOwl:hasDbXref "NCI:C36075"^^xsd:string, "OMIM:602782"^^xsd:string ; oboInOwl:hasExactSynonym "Faisalabad histiocytosis"@en, "H syndrome"@en, "HJCD"@en, "PHID"@en, "SHML"@en, "cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss"@en, "familial Rosai-Dorfman disease"@en, "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness"@en, "histiocytosis with joint contractures and sensorineural deafness"@en, "pigmented hypertrichosis with insulin-dependent diabetes mellitus"@en, "sinus histiocytosis and massive lymphadenopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111278"^^xsd:string ; a owl:Class ; rdfs:label "histiocytosis-lymphadenopathy plus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111279 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605606"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111279"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111280 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603935"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111280"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111281 obo:IAO_0000115 "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in AP1S3 on chromosome 2q36.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616106"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111281"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 15"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111282 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604316"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111282"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111283 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 4q."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601454"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111283"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111284 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607857"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111284"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 9"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111285 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612599"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111285"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 11"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111286 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:177900"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111286"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111287 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in TRAF3IP2 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614070"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111287"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 13"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111288 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610707"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111288"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111289 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612410"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111289"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 10"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111290 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605364"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111290"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111291 obo:IAO_0000115 "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612950"^^xsd:string ; oboInOwl:hasExactSynonym "PSORS12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111291"^^xsd:string ; a owl:Class ; rdfs:label "psoriasis 12"^^xsd:string ; rdfs:subClassOf obo:DOID_8893 . obo:DOID_0111292 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613060"^^xsd:string ; oboInOwl:hasExactSynonym "EIG10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111292"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111293 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609800"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+4"@en, "GEFSP4"@en, "generalised epilepsy with febrile seizures plus 4"@en, "generalised epilepsy with febrile seizures plus type 4"@en, "generalized epilepsy with febrile seizures plus type 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111293"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111294 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604403"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+2"@en, "GEFSP2"@en, "generalised epilepsy with febrile seizures plus 2"@en, "generalised epilepsy with febrile seizures plus type 2"@en, "generalized epilepsy with febrile seizures plus type 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111294"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111295 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613863"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+7"@en, "GEFSP7"@en, "generalised epilepsy with febrile seizures plus 7"@en, "generalised epilepsy with febrile seizures plus type 7"@en, "generalized epilepsy with febrile seizures plus type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111295"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111296 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618482"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+10"@en, "GEFSP10"@en, "generalised epilepsy with febrile seizures plus 10"@en, "generalised epilepsy with febrile seizures plus type 10"@en, "generalized epilepsy with febrile seizures plus type 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111296"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111297 obo:IAO_0000115 "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS121210"^^xsd:string ; oboInOwl:hasExactSynonym "FEB"@en, "familial febrile convulsions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111297"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_0111298 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607681"^^xsd:string ; oboInOwl:hasExactSynonym "FEB8"@en, "familial febrile convulsions 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111298"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111299 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613828"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+8"@en, "GEFSP8"@en, "generalised epilepsy with febrile seizures plus 8"@en, "generalised epilepsy with febrile seizures plus type 8"@en, "generalized epilepsy with febrile seizures plus type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111299"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111300 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612279"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+6"@en, "GEFSP6"@en, "generalised epilepsy with febrile seizures plus 6"@en, "generalised epilepsy with febrile seizures plus type 6"@en, "generalized epilepsy with febrile seizures plus type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111300"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111301 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616172"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+9"@en, "GEFSP9"@en, "generalised epilepsy with febrile seizures plus 9"@en, "generalised epilepsy with febrile seizures plus type 9"@en, "generalized epilepsy with febrile seizures plus type 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111301"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111302 obo:IAO_0000115 "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604233"^^xsd:string ; oboInOwl:hasExactSynonym "GEFS+1"@en, "GEFSP1"@en, "generalised epilepsy with febrile seizures plus 1"@en, "generalised epilepsy with febrile seizures plus type 1"@en, "generalized epilepsy with febrile seizures plus type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111302"^^xsd:string ; a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060170 . obo:DOID_0111303 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611634"^^xsd:string ; oboInOwl:hasExactSynonym "FEB9"@en, "familial febrile convulsions 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111303"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111304 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612637"^^xsd:string ; oboInOwl:hasExactSynonym "FEB10"@en, "familial febrile convulsions 10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111304"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111305 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in heterozygous mutation ADGRV1 on chromosome 5q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604352"^^xsd:string ; oboInOwl:hasExactSynonym "FEB4"@en, "familial febrile convulsions 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111305"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111306 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609255"^^xsd:string ; oboInOwl:hasExactSynonym "FEB5"@en, "familial febrile convulsions 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111306"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111307 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:121210"^^xsd:string ; oboInOwl:hasExactSynonym "FEB1"@en, "familial febrile convulsions 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111307"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111308 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in homozygous mutation in CPA6 on chromosome 8p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614418"^^xsd:string ; oboInOwl:hasExactSynonym "FEB11"@en, "familial febrile convulsions 11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111308"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111309 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609253"^^xsd:string ; oboInOwl:hasExactSynonym "FEB6"@en, "familial febrile convulsions 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111309"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111310 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602477"^^xsd:string ; oboInOwl:hasExactSynonym "FEB2"@en, "familial febrile convulsions 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111310"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111311 obo:IAO_0000115 "A familial febrile seizures that has_material_basis_in heterozygous mutation."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611515"^^xsd:string ; oboInOwl:hasExactSynonym "FEB7"@en, "familial febrile convulsions 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111311"^^xsd:string ; a owl:Class ; rdfs:label "familial febrile seizures 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0111297 . obo:DOID_0111312 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607628"^^xsd:string ; oboInOwl:hasExactSynonym "EIG11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111312"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111313 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614847"^^xsd:string ; oboInOwl:hasExactSynonym "EIG12"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111313"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 12"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111314 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611136"^^xsd:string ; oboInOwl:hasExactSynonym "EIG13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111314"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 13"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111315 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616685"^^xsd:string ; oboInOwl:hasExactSynonym "EIG14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111315"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 14"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111316 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618357"^^xsd:string ; oboInOwl:hasExactSynonym "EIG15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111316"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 15"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111317 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606972"^^xsd:string ; oboInOwl:hasExactSynonym "EIG2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111317"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111318 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608762"^^xsd:string ; oboInOwl:hasExactSynonym "EIG3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111318"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111319 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609750"^^xsd:string ; oboInOwl:hasExactSynonym "EIG4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111319"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111320 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611934"^^xsd:string ; oboInOwl:hasExactSynonym "EIG5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111320"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111321 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:604827"^^xsd:string ; oboInOwl:hasExactSynonym "EIG7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111321"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111322 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612899"^^xsd:string ; oboInOwl:hasExactSynonym "EIG8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111322"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111323 obo:IAO_0000115 "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607682"^^xsd:string ; oboInOwl:hasExactSynonym "EIG9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111323"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic generalized epilepsy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1827 . obo:DOID_0111324 obo:IAO_0000115 "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607631"^^xsd:string ; oboInOwl:hasExactSynonym "EJA1"@en, "JAE1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111324"^^xsd:string ; a owl:Class ; rdfs:label "juvenile absence epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060172 . obo:DOID_0111325 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617924"^^xsd:string ; oboInOwl:hasExactSynonym "EJM10"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111325"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111326 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608816"^^xsd:string ; oboInOwl:hasExactSynonym "EJM3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111326"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111327 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611364"^^xsd:string ; oboInOwl:hasExactSynonym "EJM4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111327"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111328 obo:IAO_0000115 "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614280"^^xsd:string ; oboInOwl:hasExactSynonym "EJM9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111328"^^xsd:string ; a owl:Class ; rdfs:label "juvenile myoclonic epilepsy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_4890, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111329 obo:IAO_0000115 "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10730"^^xsd:string, "MESH:C566449"^^xsd:string, "OMIM:610090"^^xsd:string, "ORDO:79096"^^xsd:string, "SNOMEDCT_US_2021_03_01:724576005"^^xsd:string, "UMLS_CUI:C1864723"^^xsd:string ; oboInOwl:hasExactSynonym "PNPO deficiency"@en, "PNPO-related neonatal epileptic encephalopathy"@en, "pyridoxal 5'-phosphate-dependent epilepsy"@en, "pyridoxal phosphate-dependent seizures"@en, "pyridoxal phosphate-responsive seizures"@en, "pyridoxamine 5'-oxidase deficiency"@en, "pyridoxamine 5-prime-phosphate oxidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111329"^^xsd:string ; a owl:Class ; rdfs:label "pyridoxamine 5'-phosphate oxidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718 . obo:DOID_0111330 obo:IAO_0000115 "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611721"^^xsd:string, "ORDO:139406"^^xsd:string ; oboInOwl:hasExactSynonym "PSAPD"@en, "combined SAP deficiency"@en, "encephalopathy due to prosaposin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111330"^^xsd:string ; a owl:Class ; rdfs:label "combined saposin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_1927, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111331 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in FOXP1 on chromosome 3p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:12501"^^xsd:string, "OMIM:613670"^^xsd:string, "ORDO:391372"^^xsd:string ; oboInOwl:hasExactSynonym "FOXP1 syndrome"@en, "Mental retardation with language impairment and with or without autistic features"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111331"^^xsd:string ; a owl:Class ; rdfs:label "intellectual disability-severe speech delay-mild dysmorphism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111332 obo:IAO_0000115 "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614325"^^xsd:string ; oboInOwl:hasExactSynonym "PTHSL2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111332"^^xsd:string ; a owl:Class ; rdfs:label "Pitt-Hopkins-like syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111333 obo:IAO_0000115 "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12199"^^xsd:string, "OMIM:614399"^^xsd:string, "ORDO:439212"^^xsd:string ; oboInOwl:hasExactSynonym "EMARDD"@en, "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111333"^^xsd:string ; a owl:Class ; rdfs:label "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080100, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111334 obo:IAO_0000115 "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614962"^^xsd:string, "ORDO:66628"^^xsd:string ; oboInOwl:hasExactSynonym "LEPD"@en, "leptin deficiency or dysfunction"@en, "morbid obesity"@en, "obesity due to congenital leptin deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111334"^^xsd:string ; a owl:Class ; rdfs:label "congenital leptin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111335 obo:IAO_0000115 "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12978"^^xsd:string, "OMIM:615673"^^xsd:string, "ORDO:401768"^^xsd:string ; oboInOwl:hasExactSynonym "MPXPS"@en, "proximal myopathy with extrapyramidal signs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111335"^^xsd:string ; a owl:Class ; rdfs:label "myopathy with extrapyramidal signs"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111336 obo:IAO_0000115 "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in PAX3 on chromosome 2q36.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:1571"^^xsd:string, "MESH:C536453"^^xsd:string, "OMIM:122880"^^xsd:string, "ORDO:1529"^^xsd:string, "SNOMEDCT_US_2021_03_01:702362004"^^xsd:string, "UMLS_CUI:C1852510"^^xsd:string ; oboInOwl:hasExactSynonym "CDHS"@en, "Sommer-Young-Wee-Frye syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111336"^^xsd:string ; a owl:Class ; rdfs:label "craniofacial-deafness-hand syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111337 obo:IAO_0000115 "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:6796"^^xsd:string, "MESH:C537559"^^xsd:string, "NCI:C123814"^^xsd:string, "OMIM:123150"^^xsd:string, "ORDO:1540"^^xsd:string, "SNOMEDCT_US_2021_03_01:709105005"^^xsd:string, "UMLS_CUI:C0795998"^^xsd:string ; oboInOwl:hasExactSynonym "JWS"@en, "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111337"^^xsd:string ; a owl:Class ; rdfs:label "Jackson-Weiss syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111338 obo:IAO_0000115 "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:123320"^^xsd:string ; oboInOwl:hasExactSynonym "elevated serum CPK"@en, "idiopathic hyperCKemia"@en, "isolated hyperCKemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111338"^^xsd:string ; a owl:Class ; rdfs:label "isolated elevated serum creatine phosphokinase levels"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111339 obo:IAO_0000115 "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536457"^^xsd:string, "OMIM:124500"^^xsd:string, "ORDO:3092"^^xsd:string, "ORDO:494"^^xsd:string, "SNOMEDCT_US_2021_03_01:24559001"^^xsd:string, "UMLS_CUI:C0265964"^^xsd:string ; oboInOwl:hasExactSynonym "KHM"@en, "Mutilating keratoderma plus deafness"@en, "PPK mutilans and deafness"@en, "VOWNKL"@en, "congenital deafness with keratopachydermia and constrictions fo fingers and toes"@en, "keratoderma hereditarium mutilans"@en, "mutilating keratoderma of Vohwinkel"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111339"^^xsd:string ; a owl:Class ; rdfs:label "Vohwinkel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111340 obo:IAO_0000115 "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "GARD:5243"^^xsd:string, "OMIM:125250"^^xsd:string, "UMLS_CUI:C3276549"^^xsd:string ; oboInOwl:hasExactSynonym "DOA+"@en, "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111340"^^xsd:string ; a owl:Class ; rdfs:label "dominant optic atrophy plus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111341 obo:IAO_0000115 "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in PTHR1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565114"^^xsd:string, "OMIM:125350"^^xsd:string, "ORDO:412206"^^xsd:string, "UMLS_CUI:C1852222"^^xsd:string ; oboInOwl:hasExactSynonym "PFE"@en, "dental noneruption"@en, "familial posterior openbite malocclusion"@en, "nonsyndromic primary failure of eruption"@en, "primary retention of teeth"@en, "unerupted second primary molar"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111341"^^xsd:string ; a owl:Class ; rdfs:label "primary failure of tooth eruption"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1091, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111342 obo:IAO_0000115 "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8550"^^xsd:string, "MESH:C535374"^^xsd:string, "OMIM:125595"^^xsd:string, "ORDO:86920"^^xsd:string, "SNOMEDCT_US_2021_03_01:239088003"^^xsd:string, "UMLS_CUI:C0406778"^^xsd:string ; oboInOwl:hasExactSynonym "DPR"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111342"^^xsd:string ; a owl:Class ; rdfs:label "dermatopathia pigmentosa reticularis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111343 obo:IAO_0000115 "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in NOTCH3 on chromosome 19p13.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:9873"^^xsd:string, "MESH:C537878"^^xsd:string, "OMIM:130720"^^xsd:string, "ORDO:2789"^^xsd:string, "UMLS_CUI:C1851710"^^xsd:string ; oboInOwl:hasExactSynonym "Lehman syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111343"^^xsd:string ; a owl:Class ; rdfs:label "lateral meningocele syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111344 obo:IAO_0000115 "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of ETV6 and PDGFRB formed by a translocation from chromosome 12 to chromosome 5q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:131440"^^xsd:string ; oboInOwl:hasExactSynonym "chronic myeloproliferative disorder with eosinophilia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111344"^^xsd:string ; a owl:Class ; rdfs:label "myeloproliferative disorder with eosinophilia"^^xsd:string ; rdfs:subClassOf obo:DOID_2226 . obo:DOID_0111345 obo:IAO_0000115 "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:10010"^^xsd:string, "MESH:C536979"^^xsd:string, "OMIM:131705"^^xsd:string, "ORDO:79411"^^xsd:string, "SNOMEDCT_US_2021_03_01:723553000"^^xsd:string, "UMLS_CUI:C1851573"^^xsd:string ; oboInOwl:hasExactSynonym "DEB, bullous dermolysis of the newborn"@en, "DEB-BDN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111345"^^xsd:string ; a owl:Class ; rdfs:label "transient bullous dermolysis of the newborn"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_4959, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111346 obo:IAO_0000115 "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:9737"^^xsd:string, "MESH:C535959"^^xsd:string, "OMIM:131960"^^xsd:string, "ORDO:79397"^^xsd:string, "SNOMEDCT_US_2021_03_01:254180002"^^xsd:string, "UMLS_CUI:C0432316"^^xsd:string ; oboInOwl:hasExactSynonym "EBSMP"@en, "Epidermolysis bullosa simplex-MP"@en, "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111346"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa simplex with mottled pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4644, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111347 obo:IAO_0000115 "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in COL7A1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:132000"^^xsd:string ; oboInOwl:hasExactSynonym "EBD, Bart type"@en, "epidermolysis bullosa dystrophica, Bart type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111347"^^xsd:string ; a owl:Class ; rdfs:label "epidermolysis bullosa with congenital localized absence of skin and deformity of nails"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_0080224, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111348 obo:IAO_0000115 "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565046"^^xsd:string, "OMIM:132450"^^xsd:string, "ORDO:166011"^^xsd:string, "UMLS_CUI:C1851536"^^xsd:string ; oboInOwl:hasExactSynonym "EDMMD"@en, "multiple epiphyseal dysplasia, Beighton type"@en, "multiple epiphyseal dysplasia-myopia-deafness syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111348"^^xsd:string ; a owl:Class ; rdfs:label "multiple epiphyseal dysplasia with myopia and deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111349 obo:IAO_0000115 "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535944"^^xsd:string, "OMIM:135290"^^xsd:string, "UMLS_CUI:C1851124"^^xsd:string ; oboInOwl:hasExactSynonym "FIF"@en, "familial infiltrative fibromatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111349"^^xsd:string ; a owl:Class ; rdfs:label "hereditary desmoid disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111350 obo:IAO_0000115 "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:155"^^xsd:string, "MESH:C535689"^^xsd:string, "OMIM:135750"^^xsd:string, "ORDO:2378"^^xsd:string, "SNOMEDCT_US_2021_03_01:715440003"^^xsd:string, "UMLS_CUI:C1851100"^^xsd:string ; oboInOwl:hasExactSynonym "MIPduplication of fibuland ulna with absence of tibia and radius"@en, "Sandrow syndrome"@en, "TMIP"@en, "miccor hands and feet with nasal defects"@en, "mirror hands and feets-nasal defects syndrome"@en, "mirror-image polydactyly"@en, "tetramelic mirror-image polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111350"^^xsd:string ; a owl:Class ; rdfs:label "Laurin-Sandrow syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_0111351 obo:IAO_0000115 "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600721"^^xsd:string ; oboInOwl:hasExactSynonym "D2HGA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111351"^^xsd:string ; a owl:Class ; rdfs:label "D-2-hydroxyglutaric aciduria 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050575, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111352 obo:IAO_0000115 "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613657"^^xsd:string ; oboInOwl:hasExactSynonym "D2HGA2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111352"^^xsd:string ; a owl:Class ; rdfs:label "D-2-hydroxyglutaric aciduria 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050575, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111353 obo:IAO_0000115 "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:208085"^^xsd:string ; oboInOwl:hasExactSynonym "ARCS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111353"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050763, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111354 obo:IAO_0000115 "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613404"^^xsd:string ; oboInOwl:hasExactSynonym "ARCS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111354"^^xsd:string ; a owl:Class ; rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050763, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111355 obo:IAO_0000115 "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in HYLS1 on chromosome 11q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236680"^^xsd:string ; oboInOwl:hasExactSynonym "HLS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111355"^^xsd:string ; a owl:Class ; rdfs:label "hydrolethalus syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050779 . obo:DOID_0111356 obo:IAO_0000115 "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KIF7 on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614120"^^xsd:string ; oboInOwl:hasExactSynonym "HLS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111356"^^xsd:string ; a owl:Class ; rdfs:label "hydrolethalus syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050779 . obo:DOID_0111357 obo:IAO_0000115 "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in SMARCAD1 on chromosome 4q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12550"^^xsd:string, "OMIM:136000"^^xsd:string, "ORDO:289465"^^xsd:string ; oboInOwl:hasExactSynonym "ADERM"@en, "ADG"@en, "Absence of fingerprints"@en, "Congenital absence of fingerprints"@en, "Immigration delay disease"@en, "Isolated congenital adermatoglyphia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111357"^^xsd:string ; a owl:Class ; rdfs:label "adermatoglyphia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_0111358 obo:IAO_0000115 "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:6455"^^xsd:string, "MESH:C537062"^^xsd:string, "OMIM:136140"^^xsd:string, "ORDO:2044"^^xsd:string, "SNOMEDCT_US_2021_03_01:205810007"^^xsd:string, "UMLS_CUI:C0729582"^^xsd:string ; oboInOwl:hasExactSynonym "FLHS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111358"^^xsd:string ; a owl:Class ; rdfs:label "Floating-Harbor syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111359 obo:IAO_0000115 "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in NRAS on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "GARD:2469"^^xsd:string, "MEDDRA:10072036"^^xsd:string, "MESH:C536819"^^xsd:string, "NCI:C3944"^^xsd:string, "NCI:C4234"^^xsd:string, "OMIM:137550"^^xsd:string, "ORDO:626"^^xsd:string, "SNOMEDCT_US_2021_03_01:254815002"^^xsd:string, "SNOMEDCT_US_2021_03_01:84953004"^^xsd:string, "UMLS_CUI:C1318558"^^xsd:string, "UMLS_CUI:C1842036"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital pigmented nevus"@en, "GMN"@en, "Giant congenital melanocytic nevus"@en, "Giant pigmented hairy nevus"@en, "LCMN"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111359"^^xsd:string ; a owl:Class ; rdfs:label "large congenital melanocytic nevus"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111360 obo:IAO_0000115 "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in SOX18 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137940"^^xsd:string ; oboInOwl:hasExactSynonym "HLT-renal defect syndrome"@en, "HLTRS"@en, "glomerulonephritis with sparse hair and telangiectases"@en, "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"@en, "telangiectatic membranoproliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111360"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111361 obo:IAO_0000115 "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607823"^^xsd:string ; oboInOwl:hasExactSynonym "HLTS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111361"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis-lymphedema-telangiectasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111362 obo:IAO_0000115 "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:5668"^^xsd:string, "MESH:C535845"^^xsd:string, "OMIM:140350"^^xsd:string, "ORDO:2118"^^xsd:string, "SNOMEDCT_US_2021_03_01:403001"^^xsd:string, "UMLS_CUI:C2931042"^^xsd:string ; oboInOwl:hasExactSynonym "4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency"@en, "4-HPPD deficiency"@en, "4-hydroxyphenylpyruvic acid dioxygenase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111362"^^xsd:string ; a owl:Class ; rdfs:label "hawkinsinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111363 obo:IAO_0000115 "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively."^^xsd:string ; oboInOwl:hasDbXref "GARD:10718"^^xsd:string, "OMIM:140700"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111363"^^xsd:string ; a owl:Class ; rdfs:label "Heinz body anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2861, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111364 obo:IAO_0000115 "An Alzheimer's disease that has_material_basis_in heterozygous mutation in ABCA7 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608907"^^xsd:string ; oboInOwl:hasExactSynonym "AD9"@en, "Alzheimer's disease 9, late onset"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111364"^^xsd:string ; a owl:Class ; rdfs:label "Alzheimer's disease 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10652, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111365 obo:IAO_0000115 "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in COL4A3 or COL4A4 on chromosome 2q36.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:141200"^^xsd:string ; oboInOwl:hasExactSynonym "BFH"@en, "TMN"@en, "thin basement membrane nephropathy"@en, "thin membrane nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111365"^^xsd:string ; a owl:Class ; rdfs:label "benign familial hematuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_18, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111366 obo:IAO_0000115 "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in HNF1A on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:142330"^^xsd:string ; oboInOwl:hasExactSynonym "familial liver cell adenomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111366"^^xsd:string ; a owl:Class ; rdfs:label "familial hepatic adenoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050868, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111367 obo:IAO_0000115 "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2690"^^xsd:string, "MESH:C564185"^^xsd:string, "OMIM:142669"^^xsd:string, "ORDO:2114"^^xsd:string, "SNOMEDCT_US_2021_03_01:721148005"^^xsd:string, "UMLS_CUI:C1840572"^^xsd:string ; oboInOwl:hasExactSynonym "BFHD"@en, "Beukes familial hip dysplasia"@en, "Beukes type hip dysplasia"@en, "Cilliers-Beighton syndrome"@en, "Premature degenerative osteoarthropathy of the hip"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111367"^^xsd:string ; a owl:Class ; rdfs:label "Beukes hip dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8398, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111368 obo:IAO_0000115 "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood."^^xsd:string ; oboInOwl:hasDbXref "ORDO:79506"^^xsd:string ; oboInOwl:hasExactSynonym "CEPT deficiency"@en, "familial hyperalphalipoproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111368"^^xsd:string ; a owl:Class ; rdfs:label "cholesterol-ester transfer protein deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_0111369 obo:IAO_0000115 "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in CETP on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564591"^^xsd:string, "NCI:C128806"^^xsd:string, "OMIM:143470"^^xsd:string, "SNOMEDCT_US_2021_03_01:238080004"^^xsd:string, "UMLS_CUI:C0342883"^^xsd:string ; oboInOwl:hasExactSynonym "HALP1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111369"^^xsd:string ; a owl:Class ; rdfs:label "hyperalphalipoproteinemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111368, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111370 obo:IAO_0000115 "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in APOC3 on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614028"^^xsd:string ; oboInOwl:hasExactSynonym "HALP2"@en, "hyperalphalipoproteinemia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111370"^^xsd:string ; a owl:Class ; rdfs:label "apolipoprotein C-III deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111368, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111371 obo:IAO_0000115 "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:143860"^^xsd:string, "ORDO:542657"^^xsd:string, "SNOMEDCT_US_2021_03_01:709413001"^^xsd:string, "UMLS_CUI:C1840437"^^xsd:string ; oboInOwl:hasExactSynonym "HYCHL"@en, "carbonic anhydrase XII deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111371"^^xsd:string ; a owl:Class ; rdfs:label "isolated hyperchlorhidrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111372 obo:IAO_0000115 "An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in LRP5 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111372"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal dominant endosteal hyperostosis"^^xsd:string ; owl:deprecated true . obo:DOID_0111373 obo:IAO_0000115 "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in KITLG on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:145250"^^xsd:string ; oboInOwl:hasExactSynonym "FPHH"@en, "MUH"@en, "melanosis universalis hereditaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111373"^^xsd:string ; a owl:Class ; rdfs:label "familial progressive hyperpigmentation with or without hypopigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111374 obo:IAO_0000115 "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564154"^^xsd:string, "OMIM:145650"^^xsd:string, "ORDO:165994"^^xsd:string, "UMLS_CUI:C1840364"^^xsd:string ; oboInOwl:hasExactSynonym "PRTH"@en, "familial hyperthyroidism due to inappropriate thyrotropin secretion"@en, "pituitary resistance to thyroid hormone"@en, "selective pituitary resistance to thyroid hormone"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111374"^^xsd:string ; a owl:Class ; rdfs:label "selective pituitary thyroid hormone resistance"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_7998, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111375 obo:IAO_0000115 "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction."^^xsd:string ; oboInOwl:hasDbXref "GARD:9634"^^xsd:string, "MESH:C536647"^^xsd:string, "NCI:C129071"^^xsd:string, "OMIM:PS208150"^^xsd:string, "ORDO:994"^^xsd:string, "SNOMEDCT_US_2021_03_01:401138005"^^xsd:string, "UMLS_CUI:C1276035"^^xsd:string ; oboInOwl:hasExactSynonym "FADS"@en, "Pena-Shokeir syndrome type 1"@en, "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome"@en, "fetal akinesia sequence"@en, "foetal akinesia deformation sequence syndrome"@en, "foetal akinesia sequence"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111375"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0111376 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618389"^^xsd:string ; oboInOwl:hasExactSynonym "FADS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111376"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111377 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:208150"^^xsd:string ; oboInOwl:hasExactSynonym "FADS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111377"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111378 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618388"^^xsd:string ; oboInOwl:hasExactSynonym "FADS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111378"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111379 obo:IAO_0000115 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in NUP88 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618393"^^xsd:string ; oboInOwl:hasExactSynonym "FADS4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111379"^^xsd:string ; a owl:Class ; rdfs:label "fetal akinesia deformation sequence syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111375, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111380 obo:IAO_0000115 "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4877"^^xsd:string, "OMIM:147250"^^xsd:string ; oboInOwl:hasExactSynonym "SMMCI"@en, "fused incisors"@en, "single central maxillary incisor"@en, "single median maxillary central incisor"@en, "single upper central incisor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111380"^^xsd:string ; a owl:Class ; rdfs:label "solitary median maxillary central incisor"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1091, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111381 obo:IAO_0000115 "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:269"^^xsd:string, "MESH:C535544"^^xsd:string, "OMIM:147750"^^xsd:string, "ORDO:2307"^^xsd:string, "SNOMEDCT_US_2021_03_01:722019000"^^xsd:string, "UMLS_CUI:C1327918"^^xsd:string ; oboInOwl:hasExactSynonym "Instituto Venezolano de Investigaciones Cientificas syndrome"@en, "OORS"@en, "Oculootoradial syndrome"@en, "oculo-oto-radial syndrome"@en, "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111381"^^xsd:string ; a owl:Class ; rdfs:label "IVIC syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111382 obo:IAO_0000115 "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3030"^^xsd:string, "MESH:C535540"^^xsd:string, "MESH:C536307"^^xsd:string, "OMIM:147891"^^xsd:string, "ORDO:1509"^^xsd:string, "SNOMEDCT_US_2021_03_01:720752007"^^xsd:string, "UMLS_CUI:C1840061"^^xsd:string, "UMLS_CUI:C1868581"^^xsd:string ; oboInOwl:hasExactSynonym "SPS"@en, "Scott-Taor syndrome"@en, "congenital coxa vara, patella aplasia and tarsal synostosis"@en, "coxo-podo-patellar syndrome"@en, "coxopodipatellar syndrome"@en, "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"@en, "ischiopatellar dysplasia"@en, "patella aplasia, coxa vara, and tarsal synostosis"@en, "small patella syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111382"^^xsd:string ; a owl:Class ; rdfs:label "ischiocoxopodopatellar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111383 obo:IAO_0000115 "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:3089"^^xsd:string, "MESH:C537022"^^xsd:string, "OMIM:148190"^^xsd:string, "ORDO:2334"^^xsd:string, "UMLS_CUI:C1835698"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111383"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4677, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111384 obo:IAO_0000115 "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615422"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD2"@en, "MSP2"@en, "multisystem proteinopathy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111384"^^xsd:string ; a owl:Class ; rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050881, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111385 obo:IAO_0000115 "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:167320"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD1"@en, "MSP1"@en, "multisystem proteinopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111385"^^xsd:string ; a owl:Class ; rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050881, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111386 obo:IAO_0000115 "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRNPA1 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615424"^^xsd:string ; oboInOwl:hasExactSynonym "IBMPFD3"@en, "MSP3"@en, "multisystem proteinopathy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111386"^^xsd:string ; a owl:Class ; rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050881, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111387 obo:IAO_0000115 "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in GCM2 on chromosome 11p15.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:146200"^^xsd:string ; oboInOwl:hasExactSynonym "FIH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111387"^^xsd:string ; a owl:Class ; rdfs:label "familial isolated hypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_11199 . obo:DOID_0111388 obo:IAO_0000115 "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:307700"^^xsd:string ; oboInOwl:hasExactSynonym "HYPX"@en, "agenesis of parathyroid glands"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111388"^^xsd:string ; a owl:Class ; rdfs:label "X-linked hypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_11199, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111389 obo:IAO_0000115 "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12560"^^xsd:string, "ICD10CM:E76.02"^^xsd:string, "MESH:D008059"^^xsd:string, "NCI:C122782"^^xsd:string, "OMIM:607015"^^xsd:string, "ORDO:93476"^^xsd:string, "SNOMEDCT_US_2021_03_01:26745009"^^xsd:string, "UMLS_CUI:C0086431"^^xsd:string ; oboInOwl:hasExactSynonym "MPS1H/S"@en, "MPSIH/S"@en, "Mucopolysaccharidosis type 1H/S"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111389"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis Ih/s"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12802, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111390 obo:IAO_0000115 "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12559"^^xsd:string, "ICD10CM:E76.01"^^xsd:string, "MESH:D008059"^^xsd:string, "NCI:C61261"^^xsd:string, "OMIM:607014"^^xsd:string, "ORDO:93473"^^xsd:string, "SNOMEDCT_US_2021_03_01:65327002"^^xsd:string, "UMLS_CUI:C0086795"^^xsd:string ; oboInOwl:hasExactSynonym "Dysostosis multiplex syndrome"@en, "Hurler disease MPS type 1H"@en, "Hurler-Pfaundler syndrome"@en, "L-iduronidase deficiency, Hurler type"@en, "MPS1-H"@en, "Mucopolysaccharidosis type I severe form"@en, "dysostosis multiplex"@en, "gargoylism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111390"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis Ih"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12802, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000280 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100543 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ] . obo:DOID_0111391 obo:IAO_0000115 "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3785"^^xsd:string, "ICD10CM:E76.210"^^xsd:string, "MESH:D009085"^^xsd:string, "NCI:C84901"^^xsd:string, "OMIM:253000"^^xsd:string, "ORDO:309297"^^xsd:string, "SNOMEDCT_US_2021_03_01:7259005"^^xsd:string, "UMLS_CUI:C0086651"^^xsd:string ; oboInOwl:hasExactSynonym "GALNS deficiency"@en, "MPS IVA"@en, "MPS4A"@en, "Morquio A disease"@en, "Morquio syndrome A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111391"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis IVA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12804, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111392 obo:IAO_0000115 "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.211"^^xsd:string, "MESH:D009085"^^xsd:string, "NCI:C84902"^^xsd:string, "OMIM:253010"^^xsd:string, "ORDO:309310"^^xsd:string, "SNOMEDCT_US_2021_03_01:254075008"^^xsd:string, "UMLS_CUI:C0086652"^^xsd:string ; oboInOwl:hasExactSynonym "MPS IVB"@en, "MPS4B"@en, "Morquio disease type B"@en, "Morquio syndrome B"@en, "beta-D-galactosidase deficiency"@en, "mucopolysaccharidosis type IVB (Morquio)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111392"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IVB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12804, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111393 obo:IAO_0000115 "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7073"^^xsd:string, "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84899"^^xsd:string, "OMIM:252930"^^xsd:string, "ORDO:79271"^^xsd:string, "SNOMEDCT_US_2021_03_01:75238000"^^xsd:string, "UMLS_CUI:C0086649"^^xsd:string ; oboInOwl:hasExactSynonym "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency"@en, "HGSNAT deficiency"@en, "Heparan-alpha-glucosaminide N-acetyltransferase deficiency"@en, "MPS3C"@en, "MPSIIIC"@en, "Mucopolysaccharidosis type 3C"@en, "Sanfilippo syndrome type C"@en, "mucopolysaccharidosis type IIIC (Sanfilippo C)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111393"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIIC"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111394 obo:IAO_0000115 "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7072"^^xsd:string, "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84898"^^xsd:string, "OMIM:252920"^^xsd:string, "ORDO:79270"^^xsd:string, "SNOMEDCT_US_2021_03_01:254071004"^^xsd:string, "UMLS_CUI:C0086648"^^xsd:string ; oboInOwl:hasExactSynonym "MPS3B"@en, "MPSIIIB"@en, "Mucopoly-saccharidosis type 3B"@en, "Mucopolysaccharidosis type 3B"@en, "N-acetyl-alpha-glucosaminidase deficiency"@en, "NAGLU deficiency"@en, "Sanfilippo syndrome type B"@en, "mucopolysaccharidosis type IIIB (Sanfilippo B)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111394"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIIB"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111395 obo:IAO_0000115 "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84897"^^xsd:string, "OMIM:252900"^^xsd:string, "ORDO:79269"^^xsd:string, "SNOMEDCT_US_2021_03_01:254070003"^^xsd:string, "UMLS_CUI:C0086647"^^xsd:string ; oboInOwl:hasExactSynonym "MPS3A"@en, "MPSIIIA"@en, "Sanfilippo syndrome type A"@en, "heparan sulfamidase deficiency"@en, "mucopolysaccharidosis III-A"@en, "mucopolysaccharidosis type 3A"@en, "mucopolysaccharidosis type IIIA (Sanfilippo A)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111395"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIIA"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111396 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:2000"^^xsd:string, "ORDO:98869"^^xsd:string ; oboInOwl:hasExactSynonym "CDA I"@en, "CDA type 1"@en, "CDA type I"@en, "Congenital dyserythropoietic anaemia type 1"@en, "Congenital dyserythropoietic anemia type 1"@en, "congenital dyserythropoietic anaemia type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111396"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type I"^^xsd:string ; rdfs:subClassOf obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111397 obo:IAO_0000115 "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "MESH:D000742"^^xsd:string, "OMIM:615631"^^xsd:string, "SNOMEDCT_US_2021_03_01:59548005"^^xsd:string, "UMLS_CUI:C0271933"^^xsd:string ; oboInOwl:hasExactSynonym "CDA, type Ib"@en, "CDAN1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111397"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type Ib"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111396, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111398 obo:IAO_0000115 "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in CDAN1 on chromosome 15q15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224120"^^xsd:string ; oboInOwl:hasExactSynonym "CDA Ia"@en, "CDAN1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111398"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type Ia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111396, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111399 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25."^^xsd:string ; oboInOwl:hasDbXref "GARD:2002"^^xsd:string, "MESH:D000742"^^xsd:string, "OMIM:105600"^^xsd:string, "ORDO:98870"^^xsd:string, "SNOMEDCT_US_2021_03_01:26409005"^^xsd:string, "UMLS_CUI:C0271934"^^xsd:string ; oboInOwl:hasExactSynonym "CDA III"@en, "CDA type 3"@en, "CDA type III"@en, "CDAN3"@en, "Congenital dyserythropoietic anaemia type 3"@en, "Congenital dyserythropoietic anemia type 3"@en, "anaemia with multinucleated erythroblasts"@en, "anemia with multinucleated erythroblasts"@en, "congenital dyserythropoietic anaemia type III"@en, "hereditary benign erythroreticulosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111399"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type III"^^xsd:string ; rdfs:subClassOf obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111400 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13."^^xsd:string ; oboInOwl:hasDbXref "NCI:C157148"^^xsd:string, "OMIM:613673"^^xsd:string, "ORDO:293825"^^xsd:string, "SNOMEDCT_US_2021_03_01:719453009"^^xsd:string, "UMLS_CUI:C3150926"^^xsd:string ; oboInOwl:hasExactSynonym "CDA IV"@en, "CDA due to KLF1 mutation"@en, "CDA type 4"@en, "CDA type IV"@en, "CDAN4"@en, "Congenital dyserythropoietic anaemia due to KLF1 mutation"@en, "Congenital dyserythropoietic anaemia type 4"@en, "Congenital dyserythropoietic anemia due to KLF1 mutation"@en, "Congenital dyserythropoietic anemia type 4"@en, "congenital dyserythropoietic anaemia type IV"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111400"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type IV"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111401 obo:IAO_0000115 "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:2001"^^xsd:string, "MESH:D000742"^^xsd:string, "OMIM:224100"^^xsd:string, "ORDO:98873"^^xsd:string, "SNOMEDCT_US_2021_03_01:68870007"^^xsd:string, "UMLS_CUI:C1306589"^^xsd:string ; oboInOwl:hasExactSynonym "CDA II"@en, "CDA type 2"@en, "CDA type II"@en, "CDAN2"@en, "Congenital dyserythropoietic anaemia type 2"@en, "Congenital dyserythropoietic anemia type 2"@en, "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"@en, "SEC23B-CDG"@en, "congenital dyserythropoietic anaemia type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111401"^^xsd:string ; a owl:Class ; rdfs:label "congenital dyserythropoietic anemia type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111402 obo:IAO_0000115 "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7074"^^xsd:string, "ICD10CM:E76.22"^^xsd:string, "MESH:D009084"^^xsd:string, "NCI:C84900"^^xsd:string, "OMIM:252940"^^xsd:string, "ORDO:79272"^^xsd:string, "SNOMEDCT_US_2021_03_01:15892005"^^xsd:string, "UMLS_CUI:C0086650"^^xsd:string ; oboInOwl:hasExactSynonym "GNS deficiency"@en, "MPS IIID"@en, "MPS3D"@en, "Mucopolysaccharidosis type 3D"@en, "N-acetylglucosamine-6-sulfatase deficiency"@en, "Sanfilippo syndrome D"@en, "Sanfilippo syndrome type D"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111402"^^xsd:string ; a owl:Class ; rdfs:label "mucopolysaccharidosis type IIID"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12801, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111403 obo:IAO_0000115 "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in MAST1 on chromosome 19p13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618273"^^xsd:string ; oboInOwl:hasExactSynonym "MCCCHCM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111403"^^xsd:string ; a owl:Class ; rdfs:label "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111404 obo:IAO_0000115 "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:1463"^^xsd:string, "MESH:C000596385"^^xsd:string, "OMIM:217080"^^xsd:string, "ORDO:1873"^^xsd:string, "SNOMEDCT_US_2021_03_01:707608003"^^xsd:string, "UMLS_CUI:C3495589"^^xsd:string ; oboInOwl:hasExactSynonym "Cone rod dystrophy-amelogenesis imperfecta syndrome"@en, "cone-rod dystrophy and amelogenesis imperfecta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111404"^^xsd:string ; a owl:Class ; rdfs:label "Jalili syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111405 obo:IAO_0000115 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FRAS1 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:219000"^^xsd:string ; oboInOwl:hasExactSynonym "FRASRS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111405"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0090001 . obo:DOID_0111406 obo:IAO_0000115 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in GRIP1 on chromosome 12q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617667"^^xsd:string ; oboInOwl:hasExactSynonym "FRASRS3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111406"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0090001 . obo:DOID_0111407 obo:IAO_0000115 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617666"^^xsd:string ; oboInOwl:hasExactSynonym "FRASRS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111407"^^xsd:string ; a owl:Class ; rdfs:label "Fraser syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0090001 . obo:DOID_0111408 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in TSPAN12 on chromosome 7q31.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613310"^^xsd:string ; oboInOwl:hasExactSynonym "EVR5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111408"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111409 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605750"^^xsd:string ; oboInOwl:hasExactSynonym "EVR3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111409"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111410 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in ZNF408 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616468"^^xsd:string ; oboInOwl:hasExactSynonym "EVR6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111410"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111411 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601813"^^xsd:string ; oboInOwl:hasExactSynonym "EVR4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111411"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050739, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111412 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in FZD4 on chromosome 11q14.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:133780"^^xsd:string ; oboInOwl:hasExactSynonym "EVR1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111412"^^xsd:string ; a owl:Class ; rdfs:label "exudative vitreoretinopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111413 obo:IAO_0000115 "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305390"^^xsd:string ; oboInOwl:hasExactSynonym "EVR2"@en, "EVRX"@en, "FEVRX"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111413"^^xsd:string ; a owl:Class ; rdfs:label "X-linked exudative vitreoretinopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050535, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111414 obo:IAO_0000115 "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex."^^xsd:string ; oboInOwl:hasDbXref "GARD:5258"^^xsd:string, "MESH:C565627"^^xsd:string, "OMIM:PS222470"^^xsd:string, "ORDO:84064"^^xsd:string, "SNOMEDCT_US_2021_03_01:703406006"^^xsd:string, "UMLS_CUI:C1857276"^^xsd:string ; oboInOwl:hasExactSynonym "SD/THE"@en, "Syndromic diarrhea/Tricho-hepato-enteric syndrome"@en, "THES"@en, "Tricho-hepato-enteric syndrome"@en, "phenotypic diarrhea"@en, "syndromic diarrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111414"^^xsd:string ; a owl:Class ; rdfs:label "trichohepatoenteric syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_0111415 obo:IAO_0000115 "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in TTC37 on chromosome5q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:222470"^^xsd:string ; oboInOwl:hasExactSynonym "THES1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111415"^^xsd:string ; a owl:Class ; rdfs:label "trichohepatoenteric syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111414 . obo:DOID_0111416 obo:IAO_0000115 "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in SKIV2L on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614602"^^xsd:string ; oboInOwl:hasExactSynonym "THES2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111416"^^xsd:string ; a owl:Class ; rdfs:label "trichohepatoenteric syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111414 . obo:DOID_0111417 obo:IAO_0000115 "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia."^^xsd:string ; oboInOwl:hasDbXref "ORDO:444490"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111417"^^xsd:string ; a owl:Class ; rdfs:label "familial chylomicronemia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_0111418 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008072"^^xsd:string, "OMIM:207750"^^xsd:string, "ORDO:309020"^^xsd:string, "SNOMEDCT_US_2021_03_01:33513003"^^xsd:string, "UMLS_CUI:C0268199"^^xsd:string, "UMLS_CUI:C1720779"^^xsd:string ; oboInOwl:hasExactSynonym "C-II anapolipoproteinemia"@en, "familial APOC2 deficiency"@en, "familial apoC-II deficiency"@en, "hyperlipoproteinemia, type 1b"@en, "hyperlipoproteinemia, type Ib"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111418"^^xsd:string ; a owl:Class ; rdfs:label "familial apolipoprotein C-II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111419 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase."^^xsd:string ; oboInOwl:hasDbXref "OMIM:118830"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111419"^^xsd:string ; a owl:Class ; rdfs:label "familial chylomicronemia due to inhibition of lipoprotein lipase activity"^^xsd:string ; rdfs:subClassOf obo:DOID_0111417 . obo:DOID_0111420 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615947"^^xsd:string, "ORDO:535458"^^xsd:string ; oboInOwl:hasExactSynonym "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"@en, "hyperlipoproteinemia type 1D"@en, "hyperlipoproteinemia type ID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111420"^^xsd:string ; a owl:Class ; rdfs:label "familial GPIHBP1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111421 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:144650"^^xsd:string, "ORDO:530849"^^xsd:string ; oboInOwl:hasExactSynonym "familial APOA5 deficiency"@en, "familial apolipoprotein A-V deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111421"^^xsd:string ; a owl:Class ; rdfs:label "familial apolipoprotein A5 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111422 obo:IAO_0000115 "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:246650"^^xsd:string, "ORDO:535453"^^xsd:string ; oboInOwl:hasExactSynonym "LPL and HL deficiency"@en, "LPL and HTGL deficiency"@en, "combined lipase deficiency"@en, "familial LMF1 deficiency"@en, "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111422"^^xsd:string ; a owl:Class ; rdfs:label "familial lipase maturation factor 1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111417, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111423 obo:IAO_0000115 "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in EYA1 on chromosome 8q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:113650"^^xsd:string ; oboInOwl:hasExactSynonym "BOR1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111423"^^xsd:string ; a owl:Class ; rdfs:label "branchiootorenal syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_14702 . obo:DOID_0111424 obo:IAO_0000115 "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in SIX5 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610896"^^xsd:string ; oboInOwl:hasExactSynonym "BOR2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111424"^^xsd:string ; a owl:Class ; rdfs:label "branchiootorenal syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_14702 . obo:DOID_0111425 obo:IAO_0000115 "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNI3 on chromosome 19q13.42."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115210"^^xsd:string ; oboInOwl:hasExactSynonym "RCM1"@en, "familial restrictive cardiomyopathy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111425"^^xsd:string ; a owl:Class ; rdfs:label "restrictive cardiomyopathy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_397 . obo:DOID_0111426 obo:IAO_0000115 "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609578"^^xsd:string ; oboInOwl:hasExactSynonym "RCM2"@en, "familial restrictive cardiomyopathy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111426"^^xsd:string ; a owl:Class ; rdfs:label "restrictive cardiomyopathy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_397 . obo:DOID_0111427 obo:IAO_0000115 "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNT2 on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612422"^^xsd:string ; oboInOwl:hasExactSynonym "RCM3"@en, "familial restrictive cardiomyopathy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111427"^^xsd:string ; a owl:Class ; rdfs:label "restrictive cardiomyopathy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_397 . obo:DOID_0111428 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in DRD3 on chromosome 3q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:190300"^^xsd:string ; oboInOwl:hasExactSynonym "ETM1"@en, "hereditary essential tremor 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111428"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111429 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602134"^^xsd:string ; oboInOwl:hasExactSynonym "ETM2"@en, "hereditary essential tremor 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111429"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111430 obo:IAO_0000115 "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611456"^^xsd:string ; oboInOwl:hasExactSynonym "ETM3"@en, "hereditary essential tremor 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111430"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 3"^^xsd:string ; rdfs:subClassOf obo:DOID_4990 . obo:DOID_0111431 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614782"^^xsd:string ; oboInOwl:hasExactSynonym "ETM4"@en, "hereditary essential tremor 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111431"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111432 obo:IAO_0000115 "An essential tremor that has_material_basis_in heterozygous mutation in TENM4 on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616736"^^xsd:string ; oboInOwl:hasExactSynonym "ETM5"@en, "hereditary essential tremor 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111432"^^xsd:string ; a owl:Class ; rdfs:label "essential tremor 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_4990, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111433 obo:IAO_0000115 "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:10203"^^xsd:string, "MESH:C537128"^^xsd:string, "OMIM:165300"^^xsd:string, "ORDO:67036"^^xsd:string, "SNOMEDCT_US_2021_03_01:719517009"^^xsd:string, "UMLS_CUI:C1833809"^^xsd:string ; oboInOwl:hasExactSynonym "ADOAC"@en, "OPA3"@en, "autosomal dominant optic atrophy 3"@en, "autosomal dominant optic atrophy and cataract"@en, "autosomal dominant optic atrophy type 3"@en, "optic atrophy 3 with cataract"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111433"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111434 obo:IAO_0000115 "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616732"^^xsd:string ; oboInOwl:hasExactSynonym "OPA10"@en, "optic atrophy 10 with or without ataxia, mental retardation, and seizures"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111434"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111435 obo:IAO_0000115 "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258500"^^xsd:string ; oboInOwl:hasExactSynonym "OPA6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111435"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111436 obo:IAO_0000115 "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in YME1L1 on chromosome 10p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617302"^^xsd:string ; oboInOwl:hasExactSynonym "OPA11"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111436"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111437 obo:IAO_0000115 "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126A on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612989"^^xsd:string ; oboInOwl:hasExactSynonym "OPA7"@en, "optic atrophy 7 with or without auditory neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111437"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111438 obo:IAO_0000115 "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610708"^^xsd:string ; oboInOwl:hasExactSynonym "OPA5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111438"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111439 obo:IAO_0000115 "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616648"^^xsd:string ; oboInOwl:hasExactSynonym "OPA8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111439"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111440 obo:IAO_0000115 "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:605293"^^xsd:string ; oboInOwl:hasExactSynonym "OPA4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111440"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111441 obo:IAO_0000115 "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "OMIM:165500"^^xsd:string ; oboInOwl:hasExactSynonym "OPA1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111441"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111442 obo:IAO_0000115 "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616289"^^xsd:string ; oboInOwl:hasExactSynonym "OPA9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111442"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5723, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111443 obo:IAO_0000115 "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:311050"^^xsd:string ; oboInOwl:hasExactSynonym "OPA2"@en, "X-linked optic atrophy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111443"^^xsd:string ; a owl:Class ; rdfs:label "optic atrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_0111444 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020191"^^xsd:string, "OMIM:254900"^^xsd:string, "ORDO:163696"^^xsd:string, "SNOMEDCT_US_2021_03_01:764453009"^^xsd:string, "UMLS_CUI:C0751779"^^xsd:string ; oboInOwl:hasExactSynonym "AMRF"@en, "EPM4"@en, "Myoclonus-nephropathy syndrome"@en, "action myoclonus-renal failure syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111444"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111445 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616640"^^xsd:string, "ORDO:324290"^^xsd:string ; oboInOwl:hasExactSynonym "EPM10"@en, "early-onset Lafora body disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111445"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111446 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:2167"^^xsd:string, "MESH:C567095"^^xsd:string, "OMIM:611726"^^xsd:string, "ORDO:263516"^^xsd:string, "UMLS_CUI:C2673257"^^xsd:string ; oboInOwl:hasExactSynonym "CLN14 disease"@en, "EPM3"@en, "PME type 3"@en, "Progressive myoclonic epilepsy due to KCTD7 deficiency"@en, "Progressive myoclonus epilepsy type 3"@en, "neuronal ceroid lipofuscinosis 14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111446"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111447 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1."^^xsd:string ; oboInOwl:hasDbXref "NCI:C142804"^^xsd:string, "OMIM:616187"^^xsd:string, "ORDO:435438"^^xsd:string, "UMLS_CUI:C4015420"^^xsd:string ; oboInOwl:hasExactSynonym "EPM7"@en, "MEAK"@en, "Myoclonus epilepsy and ataxia due to potassium channel mutation"@en, "PME type 7"@en, "Progressive myoclonic epilepsy due to KV3.1 deficiency"@en, "Progressive myoclonus epilepsy type 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111447"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111448 obo:IAO_0000115 "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612437"^^xsd:string ; oboInOwl:hasExactSynonym "EPM1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111448"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111449 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:3872"^^xsd:string, "OMIM:614018"^^xsd:string, "ORDO:280620"^^xsd:string ; oboInOwl:hasExactSynonym "EPM6"@en, "GOSR2-related progressive myoclonus ataxia"@en, "North Sea progressive myoclonus epilepsy"@en, "PME type 6"@en, "Progressive myoclonus epilepsy type 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111449"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111450 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616540"^^xsd:string, "ORDO:457265"^^xsd:string ; oboInOwl:hasExactSynonym "EMP9"@en, "PME type 9"@en, "progressive myoclonic epilepsy due to LMNB2 deficiency"@en, "progressive myoclonus epilepsy type 9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111450"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111451 obo:IAO_0000115 "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616230"^^xsd:string, "ORDO:424027"^^xsd:string ; oboInOwl:hasExactSynonym "EMP8"@en, "PME type 8"@en, "progressive myoclonic epilepsy due to CERS1 deficiency"@en, "progressive myoclonus epilepsy type 8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111451"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111452 obo:IAO_0000115 "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:254800"^^xsd:string ; oboInOwl:hasExactSynonym "EPM1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111452"^^xsd:string ; a owl:Class ; rdfs:label "progressive myoclonus epilepsy 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3535, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111453 obo:IAO_0000115 "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:204750"^^xsd:string, "ORDO:79154"^^xsd:string ; oboInOwl:hasExactSynonym "AMOXAD"@en, "alpha-aminoadipic aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111453"^^xsd:string ; a owl:Class ; rdfs:label "2-aminoadipic 2-oxoadipic aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111454 obo:IAO_0000115 "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has _material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:7633"^^xsd:string, "MESH:C537327"^^xsd:string, "OMIM:269880"^^xsd:string, "ORDO:3163"^^xsd:string, "UMLS_CUI:C0878684"^^xsd:string ; oboInOwl:hasExactSynonym "Aarskog-Ose-Pande syndrome"@en, "Lipodystrophy-Rieger anomaly-diabetes syndrome"@en, "Rieger anomaly-partial lipodystrophy syndrome"@en, "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111454"^^xsd:string ; a owl:Class ; rdfs:label "SHORT syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111455 obo:IAO_0000115 "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has _material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:1"^^xsd:string, "MESH:C537934"^^xsd:string, "OMIM:603358"^^xsd:string, "ORDO:53693"^^xsd:string, "SNOMEDCT_US_2021_03_01:703388005"^^xsd:string, "UMLS_CUI:C1864002"^^xsd:string ; oboInOwl:hasExactSynonym "FLNMS"@en, "Fellman disease"@en, "Finnish lactic acidosis with hepatic hemosiderosis"@en, "Finnish lethal neonatal metabolic syndrome"@en, "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"@en, "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"@en, "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111455"^^xsd:string ; a owl:Class ; rdfs:label "GRACILE syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111456 obo:IAO_0000115 "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3084"^^xsd:string, "MESH:C537013"^^xsd:string, "OMIM:244450"^^xsd:string, "ORDO:2707"^^xsd:string, "SNOMEDCT_US_2021_03_01:722056009"^^xsd:string, "UMLS_CUI:C1855663"^^xsd:string ; oboInOwl:hasExactSynonym "KOS"@en, "blepharophimosis ptosis intellectual disability syndrome"@en, "oculocerebrofacial syndrome, Kaufman type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111456"^^xsd:string ; a owl:Class ; rdfs:label "Kaufman oculocerebrofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050888, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111457 obo:IAO_0000115 "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in TMEM173 on chromosome 5q31."^^xsd:string ; oboInOwl:hasDbXref "GARD:12357"^^xsd:string, "OMIM:615934"^^xsd:string, "ORDO:425120"^^xsd:string ; oboInOwl:hasExactSynonym "SAVI"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111457"^^xsd:string ; a owl:Class ; rdfs:label "STING-associated vasculopathy with onset in infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060051, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_0111458 obo:IAO_0000115 "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:5392"^^xsd:string, "MESH:D005693"^^xsd:string, "OMIM:230350"^^xsd:string, "ORDO:79238"^^xsd:string, "SNOMEDCT_US_2021_03_01:8849004"^^xsd:string, "UMLS_CUI:C0751161"^^xsd:string ; oboInOwl:hasExactSynonym "GALE deficiency"@en, "GALE-D"@en, "UDP-galactose-4-epimerase deficiency"@en, "epimerase deficiency galactosemia"@en, "galactosemia III"@en, "galactosemia type 3"@en, "uridine diphosphate galactose-4-epimerase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111458"^^xsd:string ; a owl:Class ; rdfs:label "galactose epimerase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111459 obo:IAO_0000115 "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:13639"^^xsd:string, "MESH:D005693"^^xsd:string, "NCI:C99104"^^xsd:string, "OMIM:230400"^^xsd:string, "ORDO:79239"^^xsd:string, "SNOMEDCT_US_2021_03_01:398664009"^^xsd:string, "UMLS_CUI:C0268151"^^xsd:string ; oboInOwl:hasExactSynonym "GALT deficiency"@en, "galactose-1-phosphate uridyltransferase deficiency"@en, "galactosemia type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111459"^^xsd:string ; a owl:Class ; rdfs:label "classic galactosemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111460 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in BRAF on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:115150"^^xsd:string ; oboInOwl:hasExactSynonym "CFC1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111460"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111461 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in KRAS on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615278"^^xsd:string ; oboInOwl:hasExactSynonym "CFC2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111461"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111462 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAP2K1 on chromosome 15q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615279"^^xsd:string ; oboInOwl:hasExactSynonym "CFC3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111462"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111463 obo:IAO_0000115 "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAPK2K2 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615280"^^xsd:string ; oboInOwl:hasExactSynonym "CFC4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111463"^^xsd:string ; a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060233, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111464 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in TRIT1 on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617873"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD35"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111464"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111465 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615918"^^xsd:string, "ORDO:420733"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD21"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111465"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111466 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618378"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD38"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111466"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111467 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614932"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111467"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111468 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616430"^^xsd:string, "ORDO:447954"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD25"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111468"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111469 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12892"^^xsd:string, "OMIM:615395"^^xsd:string, "ORDO:352563"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD16"@en, "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111469"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111470 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616794"^^xsd:string, "ORDO:466784"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD28"@en, "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111470"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111471 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616974"^^xsd:string, "ORDO:478042"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD30"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111471"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111472 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614582"^^xsd:string, "ORDO:319509"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD9"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111472"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111473 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611719"^^xsd:string, "ORDO:137908"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD5"@en, "hypotonia with lactic acidemia and hyperammonemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111473"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111474 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563797"^^xsd:string, "NCI:C125663"^^xsd:string, "OMIM:609060"^^xsd:string, "ORDO:137681"^^xsd:string, "UMLS_CUI:C1836797"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD1"@en, "early fatal progressive hepatoencephalopathy"@en, "hepatoencephalopathy due to COXPD1"@en, "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111474"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111475 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618397"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD39"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111475"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111476 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615595"^^xsd:string, "ORDO:397593"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD19"@en, "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111476"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111477 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614946"^^xsd:string, "ORDO:319519"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD14"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111477"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111478 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615917"^^xsd:string, "ORDO:420728"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD20"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111478"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111479 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614096"^^xsd:string, "ORDO:319504"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD8"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111479"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111480 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614702"^^xsd:string, "ORDO:314637"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD10"@en, "infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis"@en, "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111480"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111481 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614922"^^xsd:string, "ORDO:324535"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD11"@en, "infantile encephaloneuromyopathy due to mitochondrial translation defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111481"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111482 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS2 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617950"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD36"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111482"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111483 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610498"^^xsd:string, "ORDO:254920"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD2"@en, "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111483"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111484 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615578"^^xsd:string, "ORDO:391348"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD18"@en, "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111484"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111485 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616239"^^xsd:string, "ORDO:444458"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111485"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111486 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TSFM on chromosome 12q14.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566467"^^xsd:string, "OMIM:610505"^^xsd:string, "ORDO:168566"^^xsd:string, "UMLS_CUI:C1864840"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD3"@en, "Fatal mitochondrial disease due to COXPD3"@en, "concentric cardiomyopathy, hypotonia, and lactic acidosis"@en, "encephalomyopathy, respiratory failure, and lactic acidosis"@en, "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111486"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111487 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613559"^^xsd:string, "ORDO:254930"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD7"@en, "severe C12ORF65-related COXPD"@en, "severe C12ORF65-related combined oxidative phosphorylation defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111487"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111488 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617228"^^xsd:string, "ORDO:478049"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD31"@en, "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111488"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111489 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616672"^^xsd:string, "ORDO:477774"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111489"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111490 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616539"^^xsd:string, "ORDO:477684"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD26"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111490"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111491 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614947"^^xsd:string, "ORDO:319524"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111491"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111492 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617664"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD32"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111492"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111493 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:13381"^^xsd:string, "OMIM:614924"^^xsd:string, "ORDO:314051"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD12"@en, "LTBL"@en, "leukoencephalopathy with thalamus and brainstem involvement and high lactate"@en, "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111493"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111494 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565690"^^xsd:string, "OMIM:610678"^^xsd:string, "ORDO:254925"^^xsd:string, "UMLS_CUI:C1857682"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111494"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111495 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617713"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD33"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111495"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111496 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615440"^^xsd:string, "ORDO:369913"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD17"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111496"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111497 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617872"^^xsd:string, "ORDO:457223"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD34"@en, "syndromic sensorineural deafness due to COXPD"@en, "syndromic sensorineural deafness due to combined oxidative phosphorylation defect"@en, "syndromic sensorineural hearing loss due to COXPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111497"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000296 ] . obo:DOID_0111498 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616045"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111498"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111499 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618329"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD37"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111499"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111500 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616198"^^xsd:string, "ORDO:444013"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD23"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111500"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111501 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616811"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD29"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111501"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111502 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300816"^^xsd:string, "ORDO:238329"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD6"@en, "Mitochondrial encephalomyopathy due to COXPD6"@en, "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"@en, "severe X-linked mitochondrial encephalomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111502"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0060286, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111503 obo:IAO_0000115 "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in TP53 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:151623"^^xsd:string ; oboInOwl:hasExactSynonym "LFS1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111503"^^xsd:string ; a owl:Class ; rdfs:label "Li-Fraumeni syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_3012 . obo:DOID_0111504 obo:IAO_0000115 "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in CHEK2 on chromosome 22q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609265"^^xsd:string ; oboInOwl:hasExactSynonym "LFS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111504"^^xsd:string ; a owl:Class ; rdfs:label "Li-Fraumeni syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_3012 . obo:DOID_0111505 obo:IAO_0000115 "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3094"^^xsd:string, "MESH:C536152"^^xsd:string, "OMIM:148350"^^xsd:string, "ORDO:2202"^^xsd:string, "SNOMEDCT_US_2021_03_01:722203001"^^xsd:string, "UMLS_CUI:C1835672"^^xsd:string ; oboInOwl:hasExactSynonym "PPK-deafness syndrome"@en, "keratoderma palmoplantar deafness"@en, "palmoplantar hyperkeratosis-deafness syndrome"@en, "palmoplantar hyperkeratosis-hearing loss syndrome"@en, "palmoplantar keratoderma with deafness"@en, "palmoplantar keratoderma-hearing loss syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111505"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma-deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111506 obo:IAO_0000115 "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3102"^^xsd:string, "MESH:C536164"^^xsd:string, "OMIM:148500"^^xsd:string, "ORDO:2198"^^xsd:string, "UMLS_CUI:C1835664"^^xsd:string ; oboInOwl:hasExactSynonym "Bennion-Patterson syndrome"@en, "Howell-Evans syndrome"@en, "TOC"@en, "keratosis palmaris et plantaris with esophageal cancer"@en, "keratosis palmoplantaris-esophageal carcinoma syndrome"@en, "palmoplantar hyperkeratosis-esophageal carcinoma syndrome"@en, "palmoplantar keratoderma with esophageal cancer"@en, "tylosis with esophageal cancer"@en, "tylosis-oesophageal carcinoma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111506"^^xsd:string ; a owl:Class ; rdfs:label "palmoplantar keratoderma-esophageal carcinoma syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111507 obo:IAO_0000115 "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3223"^^xsd:string, "MESH:C537115"^^xsd:string, "OMIM:151050"^^xsd:string, "ORDO:2658"^^xsd:string, "SNOMEDCT_US_2021_03_01:1393001"^^xsd:string, "UMLS_CUI:C0432269"^^xsd:string ; oboInOwl:hasExactSynonym "Lenz-Majewski syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111507"^^xsd:string ; a owl:Class ; rdfs:label "Lenz-Majewski hyperostotic dwarfism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111508 obo:IAO_0000115 "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:4382"^^xsd:string, "MESH:C563627"^^xsd:string, "OMIM:151210"^^xsd:string, "ORDO:85166"^^xsd:string, "UMLS_CUI:C1835437"^^xsd:string ; oboInOwl:hasExactSynonym "PLSD-T"@en, "PLSDT"@en, "lethal short-limbed platyspondylic dwarfism, Torrance type"@en, "platyspondylic dysplasia, Torrance-Luton type"@en, "platyspondylic lethal skeletal dysplasia, Torrance type"@en, "thanatophoric dysplasia, Torrance variant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111508"^^xsd:string ; a owl:Class ; rdfs:label "Torrance type platyspondylic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0111509 obo:IAO_0000115 "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in FOXC2 on chromosome 16q24.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:333"^^xsd:string, "MESH:C537710"^^xsd:string, "NCI:C128191"^^xsd:string, "OMIM:153400"^^xsd:string, "ORDO:33001"^^xsd:string, "SNOMEDCT_US_2021_03_01:8634009"^^xsd:string, "UMLS_CUI:C0265345"^^xsd:string ; oboInOwl:hasExactSynonym "LPHDST"@en, "lymphedema with distichiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111509"^^xsd:string ; a owl:Class ; rdfs:label "lymphedema-distichiasis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111510 obo:IAO_0000115 "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome."^^xsd:string ; oboInOwl:hasDbXref "GARD:6984"^^xsd:string, "MESH:C536025"^^xsd:string, "NCI:C128115"^^xsd:string, "OMIM:154780"^^xsd:string, "ORDO:560"^^xsd:string, "SNOMEDCT_US_2021_03_01:33410002"^^xsd:string, "UMLS_CUI:C0265235"^^xsd:string ; oboInOwl:hasExactSynonym "MRSHS"@en, "deafness, myopia, cataract, saddle nose-Marshall type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111510"^^xsd:string ; a owl:Class ; rdfs:label "Marshall syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0111511 obo:IAO_0000115 "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in CDKN2A on chromosome 9p21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8468"^^xsd:string, "MESH:C536149"^^xsd:string, "OMIM:155755"^^xsd:string, "ORDO:252206"^^xsd:string, "SNOMEDCT_US_2021_03_01:717968005"^^xsd:string, "UMLS_CUI:C1835042"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma-astrocytoma syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111511"^^xsd:string ; a owl:Class ; rdfs:label "melanoma and neural system tumor syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111512 obo:IAO_0000115 "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13."^^xsd:string ; oboInOwl:hasDbXref "GARD:3560"^^xsd:string, "MESH:C562938"^^xsd:string, "OMIM:156250"^^xsd:string, "ORDO:2499"^^xsd:string, "SNOMEDCT_US_2021_03_01:205481009"^^xsd:string, "UMLS_CUI:C0410530"^^xsd:string ; oboInOwl:hasExactSynonym "METCDS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111512"^^xsd:string ; a owl:Class ; rdfs:label "metachondromatosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111513 obo:IAO_0000115 "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of RUNX2 on chromosome 6p21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3568"^^xsd:string, "OMIM:156510"^^xsd:string, "ORDO:2504"^^xsd:string ; oboInOwl:hasExactSynonym "metaphyseal dysplasia maxillary hypoplasia brachydactyly"@en, "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111513"^^xsd:string ; a owl:Class ; rdfs:label "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111514 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3571"^^xsd:string, "MESH:C537356"^^xsd:string, "NCI:C175209"^^xsd:string, "OMIM:156530"^^xsd:string, "ORDO:2635"^^xsd:string, "SNOMEDCT_US_2021_03_01:22764001"^^xsd:string, "UMLS_CUI:C0265281"^^xsd:string ; oboInOwl:hasExactSynonym "metatropic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111514"^^xsd:string ; a owl:Class ; rdfs:label "metatropic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111515 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616479"^^xsd:string, "ORDO:329336"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB2"@en, "adult-onset CPEO with mitochondrial myopathy"@en, "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"@en, "autosomal recessive progressive external ophthalmoplegia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111515"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111516 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in DGUOK on chromosome 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617070"^^xsd:string, "ORDO:329314"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB4"@en, "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"@en, "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency"@en, "autosomal recessive progressive external ophthalmoplegia 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111516"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111517 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in SLC25A4 on chromosome 4q35.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609283"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA2"@en, "autosomal dominant progressive external ophthalmoplegia 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111517"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111518 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in RRM2B on chromosome 8q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613077"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA5"@en, "autosomal dominant progressive external ophthalmoplegia 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111518"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111519 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in DNA2 on chromosome 10q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615156"^^xsd:string, "ORDO:352470"^^xsd:string ; oboInOwl:hasExactSynonym "DNA2-related mitochondrial DNA deletion syndrome"@en, "PEOA6"@en, "autosomal dominant progressive external ophthalmoplegia 6"@en, "mitochondrial DNA deletion syndrome with limb-girdle weakness"@en, "mitochondrial DNA deletion syndrome with progressive myopathy"@en, "mtDNA deletion syndrome with limb-girdle weakness"@en, "mtDNA deletion syndrome with progressive myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111519"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111520 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609286"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA3"@en, "autosomal dominant progressive external ophthalmoplegia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111520"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111521 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:157640"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA1"@en, "autosomal dominant progressive external ophthalmoplegia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111521"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111522 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in POLG on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:258450"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB1"@en, "autosomal recessive progressive external ophthalmoplegia 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111522"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111523 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617069"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB3"@en, "autosomal recessive progressive external ophthalmoplegia 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111523"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111524 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618098"^^xsd:string ; oboInOwl:hasExactSynonym "PEOB5"@en, "autosomal recessive progressive external ophthalmoplegia 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111524"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111525 obo:IAO_0000115 "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG2 on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610131"^^xsd:string ; oboInOwl:hasExactSynonym "PEOA4"@en, "autosomal dominant progressive external ophthalmoplegia 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111525"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_12558, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111526 obo:IAO_0000115 "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567186"^^xsd:string, "NCI:C120376"^^xsd:string, "OMIM:158330"^^xsd:string, "ORDO:247768"^^xsd:string, "UMLS_CUI:C2675014"^^xsd:string ; oboInOwl:hasExactSynonym "Mullerian duct failure and hyperandrogenism"@en, "WNT4 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111526"^^xsd:string ; a owl:Class ; rdfs:label "Mullerian aplasia and hyperandrogenism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1923, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111527 obo:IAO_0000115 "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22."^^xsd:string ; oboInOwl:hasDbXref "GARD:3044"^^xsd:string, "GARD:3875"^^xsd:string, "MESH:C537563"^^xsd:string, "OMIM:159950"^^xsd:string, "ORDO:2590"^^xsd:string, "SNOMEDCT_US_2021_03_01:703524005"^^xsd:string, "UMLS_CUI:C1834569"^^xsd:string ; oboInOwl:hasExactSynonym "Jankovic-Rivera syndrome"@en, "SMA-PME"@en, "SMAPME"@en, "hereditary myoclonus-progressive distal muscular atrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111527"^^xsd:string ; a owl:Class ; rdfs:label "spinal muscular atrophy with progressive myoclonic epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111528 obo:IAO_0000115 "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3912"^^xsd:string, "MESH:C538331"^^xsd:string, "OMIM:161000"^^xsd:string, "ORDO:69087"^^xsd:string, "SNOMEDCT_US_2021_03_01:239084001"^^xsd:string, "UMLS_CUI:C0343111"^^xsd:string ; oboInOwl:hasExactSynonym "NFJ syndrome"@en, "Naegeli syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111528"^^xsd:string ; a owl:Class ; rdfs:label "Naegeli-Franceschetti-Jadassohn syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111529 obo:IAO_0000115 "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover."^^xsd:string ; oboInOwl:hasDbXref "GARD:3986"^^xsd:string, "MESH:C535816"^^xsd:string, "OMIM:163000"^^xsd:string, "ORDO:624"^^xsd:string, "SNOMEDCT_US_2021_03_01:763714006"^^xsd:string, "UMLS_CUI:C2931029"^^xsd:string ; oboInOwl:hasExactSynonym "CMC"@en, "congenital capillary malformations"@en, "familial multiple port-wine stains"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111529"^^xsd:string ; a owl:Class ; rdfs:label "familial multiple nevi flammei"^^xsd:string ; rdfs:subClassOf obo:DOID_1271 . obo:DOID_0111530 obo:IAO_0000115 "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively."^^xsd:string ; oboInOwl:hasDbXref "GARD:10291"^^xsd:string, "OMIM:163200"^^xsd:string, "ORDO:2612"^^xsd:string, "SNOMEDCT_US_2021_03_01:707136009"^^xsd:string, "UMLS_CUI:C3854181"^^xsd:string ; oboInOwl:hasExactSynonym "JNP"@en, "Jadassohn nevus phakomatosis"@en, "Nevus sebaceus of Jadassohn"@en, "SFM syndrome"@en, "Schimmelpenning Feuerstein Mims syndrome"@en, "Schimmelpenning syndrome"@en, "Solomon syndrome"@en, "nevus sebaceus of Jadassohn"@en, "nevus sebaceus syndrome"@en, "organoid nevus phakomatosis"@en, "organoid nevus syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111530"^^xsd:string ; a owl:Class ; rdfs:label "linear nevus sebaceous syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111531 obo:IAO_0000115 "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:8419"^^xsd:string, "ICD10CM:H47.03"^^xsd:string, "ICD9CM:377.43"^^xsd:string, "MESH:D000080344"^^xsd:string, "NCI:C98999"^^xsd:string, "OMIM:165550"^^xsd:string, "ORDO:137902"^^xsd:string, "SNOMEDCT_US_2021_03_01:95499004"^^xsd:string, "UMLS_CUI:C0338502"^^xsd:string ; oboInOwl:hasExactSynonym "ONH"@en, "familial bilateral optic nerve hypoplasia"@en, "isolated optic nerve hypoplasia/aplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111531"^^xsd:string ; a owl:Class ; rdfs:label "bilateral optic nerve hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1891, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111532 obo:IAO_0000115 "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:4142"^^xsd:string, "MESH:C536050"^^xsd:string, "OMIM:166250"^^xsd:string, "ORDO:2645"^^xsd:string, "SNOMEDCT_US_2021_03_01:254144002"^^xsd:string, "UMLS_CUI:C0432283"^^xsd:string ; oboInOwl:hasExactSynonym "Fairbank-Keats syndrome"@en, "OGD"@en, "osteoglophonic dwarfism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111532"^^xsd:string ; a owl:Class ; rdfs:label "osteoglophonic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111533 obo:IAO_0000115 "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in ANO5 on chromosome11p14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8698"^^xsd:string, "MESH:C536039"^^xsd:string, "OMIM:166260"^^xsd:string, "ORDO:53697"^^xsd:string, "SNOMEDCT_US_2021_03_01:715568002"^^xsd:string, "UMLS_CUI:C1833736"^^xsd:string ; oboInOwl:hasExactSynonym "GDD"@en, "Levin syndrome 2"@en, "gnathodiaphyseal sclerosis"@en, "osteogenesis imperfecta with unusual skeletal lesions"@en, "osteogenesis imperfecta, Levin type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111533"^^xsd:string ; a owl:Class ; rdfs:label "gnathodiaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111534 obo:IAO_0000115 "A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in MAFB on chromosome 20q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:3818"^^xsd:string, "MESH:C567171"^^xsd:string, "OMIM:166300"^^xsd:string, "ORDO:2774"^^xsd:string, "SNOMEDCT_US_2021_03_01:766992008"^^xsd:string, "UMLS_CUI:C2674705"^^xsd:string ; oboInOwl:hasExactSynonym "MCTO"@en, "autosomal dominant multicentric osteolysis"@en, "hereditary osteolysis of carpal bones with or without nephropathy"@en, "idiopathic multicentric osteolysis with or without nephropathy"@en, "multicentric carpo-tarsal osteolysis with or without nephropathy"@en, "multicentric osteolysis nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111534"^^xsd:string ; a owl:Class ; rdfs:label "multicentric carpotarsal osteolysis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111535 obo:IAO_0000115 "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:109"^^xsd:string, "MEDDRA:10048902"^^xsd:string, "MESH:C562735"^^xsd:string, "NCI:C132062"^^xsd:string, "OMIM:166350"^^xsd:string, "ORDO:2762"^^xsd:string, "SNOMEDCT_US_2021_03_01:404074003"^^xsd:string, "UMLS_CUI:C0334041"^^xsd:string ; oboInOwl:hasExactSynonym "POH"@en, "ectopic ossification familial type"@en, "familial ectopic ossification"@en, "osteoma cutis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111535"^^xsd:string ; a owl:Class ; rdfs:label "progressive osseous heteroplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111536 obo:IAO_0000115 "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1044"^^xsd:string, "MESH:C537415"^^xsd:string, "OMIM:166700"^^xsd:string, "ORDO:1306"^^xsd:string, "SNOMEDCT_US_2021_03_01:60399005"^^xsd:string, "UMLS_CUI:C0265514"^^xsd:string ; oboInOwl:hasExactSynonym "BOS"@en, "dermatofibrosis lenticularis disseminata with osteopoikilosis"@en, "dermatoosteopoikilosis"@en, "disseminated dermatofibrosis with osteopoikilosis"@en, "osteopathia condensans disseminata"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111536"^^xsd:string ; a owl:Class ; rdfs:label "Buschke-Ollendorff syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111537 obo:IAO_0000115 "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12854"^^xsd:string, "MESH:C563475"^^xsd:string, "NCI:C125385"^^xsd:string, "OMIM:167400"^^xsd:string, "ORDO:46348"^^xsd:string, "SNOMEDCT_US_2021_03_01:699190008"^^xsd:string, "UMLS_CUI:C1833661"^^xsd:string ; oboInOwl:hasExactSynonym "PEPD"@en, "PEXPD"@en, "familial rectal pain"@en, "submandibular, ocular and rectal pain with flushing"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111537"^^xsd:string ; a owl:Class ; rdfs:label "paroxysmal extreme pain disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11465, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111538 obo:IAO_0000115 "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:7325"^^xsd:string, "ICD10CM:G71.19"^^xsd:string, "MESH:D020967"^^xsd:string, "NCI:C122790"^^xsd:string, "OMIM:168300"^^xsd:string, "ORDO:684"^^xsd:string, "SNOMEDCT_US_2021_03_01:41574007"^^xsd:string, "UMLS_CUI:C0221055"^^xsd:string ; oboInOwl:hasExactSynonym "Eulenburg disease"@en, "PMC"@en, "Von Eulenburg paramyotonia congenita"@en, "myotonia congenita intermittens"@en, "paralysis periodica paramyotonica"@en, "paramyotonia congenita"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111538"^^xsd:string ; a owl:Class ; rdfs:label "paramyotonia congenita of Von Eulenburg"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_440, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111539 obo:IAO_0000115 "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:4222"^^xsd:string, "MESH:C537172"^^xsd:string, "OMIM:168400"^^xsd:string, "ORDO:2646"^^xsd:string, "SNOMEDCT_US_2021_03_01:722210007"^^xsd:string, "UMLS_CUI:C1868616"^^xsd:string ; oboInOwl:hasExactSynonym "parastremmatic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111539"^^xsd:string ; a owl:Class ; rdfs:label "parastremmatic dwarfism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111540 obo:IAO_0000115 "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:7473"^^xsd:string, "MESH:D056732"^^xsd:string, "NCI:C85029"^^xsd:string, "OMIM:170100"^^xsd:string, "ORDO:742"^^xsd:string, "SNOMEDCT_US_2021_03_01:360994007"^^xsd:string, "UMLS_CUI:C0268532"^^xsd:string ; oboInOwl:hasExactSynonym "hyperimidodipeptiduria"@en, "imidodipeptidase deficiency"@en, "peptidase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111540"^^xsd:string ; a owl:Class ; rdfs:label "prolidase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111541 obo:IAO_0000115 "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566801"^^xsd:string, "OMIM:172870"^^xsd:string, "ORDO:251295"^^xsd:string, "SNOMEDCT_US_2021_03_01:723450004"^^xsd:string, "UMLS_CUI:C1868310"^^xsd:string ; oboInOwl:hasExactSynonym "PPRCA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111541"^^xsd:string ; a owl:Class ; rdfs:label "pigmented paravenous chorioretinal atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111542 obo:IAO_0000115 "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in TNFRSF11A on chromosome 18q21.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:9168"^^xsd:string, "MESH:C536335"^^xsd:string, "OMIM:174810"^^xsd:string, "ORDO:85195"^^xsd:string, "SNOMEDCT_US_2021_03_01:254153009"^^xsd:string, "UMLS_CUI:C0432292"^^xsd:string ; oboInOwl:hasExactSynonym "FEO"@en, "McCabe disease"@en, "hereditary expansile polyostotic osteolytic dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111542"^^xsd:string ; a owl:Class ; rdfs:label "familial expansile osteolysis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080005, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111543 obo:IAO_0000115 "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:175050"^^xsd:string ; oboInOwl:hasExactSynonym "JP-HHT"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111543"^^xsd:string ; a owl:Class ; rdfs:label "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_0111544 obo:IAO_0000115 "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:4470"^^xsd:string, "MESH:C538278"^^xsd:string, "OMIM:176305"^^xsd:string, "ORDO:2957"^^xsd:string, "SNOMEDCT_US_2021_03_01:722452004"^^xsd:string, "UMLS_CUI:C1867801"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias"@en, "preaxial deficiency-postaxial polydactyly-hypospadias syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111544"^^xsd:string ; a owl:Class ; rdfs:label "Guttmacher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111545 obo:IAO_0000115 "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4475"^^xsd:string, "MESH:C536961"^^xsd:string, "MESH:D011629"^^xsd:string, "OMIM:176410"^^xsd:string, "ORDO:3000"^^xsd:string, "SNOMEDCT_US_2021_03_01:237818003"^^xsd:string, "UMLS_CUI:C0342549"^^xsd:string, "UMLS_CUI:C1504412"^^xsd:string ; oboInOwl:hasExactSynonym "FMPP"@en, "familial gonadotropin-independent male-limited sexual precocity"@en, "male-limited precocious puberty"@en, "testotoxicosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111545"^^xsd:string ; a owl:Class ; rdfs:label "familial male-limited precocious puberty"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_28, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111546 obo:IAO_0000115 "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1626"^^xsd:string, "MESH:C536221"^^xsd:string, "OMIM:176450"^^xsd:string, "ORDO:1552"^^xsd:string, "SNOMEDCT_US_2021_03_01:413936007"^^xsd:string, "UMLS_CUI:C1531773"^^xsd:string ; oboInOwl:hasExactSynonym "Currarino triad"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111546"^^xsd:string ; a owl:Class ; rdfs:label "Currarino syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111547 obo:IAO_0000115 "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in COL4A1 on chromosome 13q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:180000"^^xsd:string, "ORDO:75326"^^xsd:string ; oboInOwl:hasExactSynonym "RATOR"@en, "retinal arteriolar tortuosity"@en, "retinal hemorrhage with vascular tortuosity"@en, "tortuosity of retinal arteries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111547"^^xsd:string ; a owl:Class ; rdfs:label "retinal arterial tortuosity"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0050828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111548 obo:IAO_0000115 "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in PITX2 on chromosome 4q25."^^xsd:string ; oboInOwl:hasDbXref "GARD:9696"^^xsd:string, "MESH:C535684"^^xsd:string, "OMIM:180550"^^xsd:string, "ORDO:91481"^^xsd:string, "SNOMEDCT_US_2021_03_01:723499000"^^xsd:string, "UMLS_CUI:C1867155"^^xsd:string ; oboInOwl:hasExactSynonym "RDC"@en, "ring dermoid syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111548"^^xsd:string ; a owl:Class ; rdfs:label "ring dermoid of cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10124, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111549 obo:IAO_0000115 "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in FGF10 on chromosome 5p12."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:750.21"^^xsd:string, "MESH:C562407"^^xsd:string, "OMIM:180920"^^xsd:string, "ORDO:86815"^^xsd:string, "SNOMEDCT_US_2021_03_01:715656004"^^xsd:string, "UMLS_CUI:C0158667"^^xsd:string ; oboInOwl:hasExactSynonym "ALSG"@en, "congenital absence of lacrimal puncta and salivary glands"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111549"^^xsd:string ; a owl:Class ; rdfs:label "aplasia of lacrimal and salivary glands"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111550 obo:IAO_0000115 "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:159"^^xsd:string, "MESH:C536623"^^xsd:string, "OMIM:181270"^^xsd:string, "ORDO:2036"^^xsd:string, "SNOMEDCT_US_2021_03_01:721888002"^^xsd:string, "UMLS_CUI:C1867020"^^xsd:string ; oboInOwl:hasExactSynonym "Finlay-Marks syndrome"@en, "SENS"@en, "Sen Syndrome"@en, "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111550"^^xsd:string ; a owl:Class ; rdfs:label "scalp-ear-nipple syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111551 obo:IAO_0000115 "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:10312"^^xsd:string, "MESH:C566695"^^xsd:string, "OMIM:181400"^^xsd:string, "ORDO:85146"^^xsd:string, "UMLS_CUI:C1867005"^^xsd:string ; oboInOwl:hasExactSynonym "Kaeser syndrome"@en, "Stark-Kaeser syndrome"@en, "scapuloperoneal syndrome type Kaeser"@en, "scapuloperoneal syndrome, neurogenic, Kaeser type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111551"^^xsd:string ; a owl:Class ; rdfs:label "neurogenic scapuloperoneal syndrome Kaeser type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_423, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111552 obo:IAO_0000115 "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:10314"^^xsd:string, "ICD10CM:G12.1"^^xsd:string, "MESH:D009134"^^xsd:string, "OMIM:181405"^^xsd:string, "ORDO:431255"^^xsd:string, "SNOMEDCT_US_2021_03_01:230248006"^^xsd:string, "UMLS_CUI:C0751335"^^xsd:string ; oboInOwl:hasExactSynonym "SPSMA"@en, "neurogenic scapuloperoneal amyotrophy, New England type"@en, "scapuloperoneal neuronopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111552"^^xsd:string ; a owl:Class ; rdfs:label "scapuloperoneal spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_231, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111553 obo:IAO_0000115 "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:994"^^xsd:string, "OMIM:184095"^^xsd:string, "ORDO:263482"^^xsd:string, "SNOMEDCT_US_2021_03_01:719204007"^^xsd:string, "UMLS_CUI:C3159322"^^xsd:string ; oboInOwl:hasExactSynonym "Brachyolmia Type 2"@en, "Pseudo-Morquio syndrome type 2"@en, "SED, Maroteaux type"@en, "spondyloepiphyseal dysplasia of Maroteaux"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111553"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Maroteaux type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111554 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^xsd:string ; oboInOwl:hasDbXref "GARD:3047"^^xsd:string, "MESH:C535797"^^xsd:string, "OMIM:184252"^^xsd:string, "ORDO:93314"^^xsd:string, "SNOMEDCT_US_2021_03_01:254077000"^^xsd:string, "UMLS_CUI:C0265280"^^xsd:string ; oboInOwl:hasExactSynonym "Jequier Kozlowski skeletal dysplasia"@en, "Jequier-Kozlowski syndrome"@en, "SMD Kozlowski type"@en, "dysmorphism arthrogryposis skeletal maturation advanced"@en, "skeletal dysplasia Jequier-Kozlowski type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111554"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Kozlowski type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111555 obo:IAO_0000115 "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617822"^^xsd:string ; oboInOwl:hasExactSynonym "ALKKUCS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111555"^^xsd:string ; a owl:Class ; rdfs:label "Alkuraya-Kucinskas syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111556 obo:IAO_0000115 "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in KRT17 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5003"^^xsd:string, "OMIM:184500"^^xsd:string, "ORDO:841"^^xsd:string ; oboInOwl:hasExactSynonym "multiple sebaceous cysts"@en, "sebocystomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111556"^^xsd:string ; a owl:Class ; rdfs:label "steatocystoma multiplex"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9098, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111557 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617087"^^xsd:string, "ORDO:90118"^^xsd:string ; oboInOwl:hasExactSynonym "AR-CMT2, Ouvrier type"@en, "CMT2A2B"@en, "Charcot-Marie-Tooth disease, axonal, type 2A2B"@en, "SEOAN due to MFN2 deficiency"@en, "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type"@en, "severe early-onset axonal neuropathy due to MFN2 deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111557"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2A2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111558 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618036"^^xsd:string, "ORDO:521414"^^xsd:string ; oboInOwl:hasExactSynonym "ATP1A1-related CMT2"@en, "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2"@en, "CMT2DD"@en, "Charcot-Marie-Tooth disease, axonal, type 2DD"@en, "Charcot-Marie-Tooth neuropathy, type 2DD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111558"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2DD"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111559 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618400"^^xsd:string ; oboInOwl:hasExactSynonym "CMT2EE"@en, "Charcot-Marie-Tooth disease, axonal, type 2EE"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111559"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 2EE"^^xsd:string ; rdfs:subClassOf obo:DOID_0050539, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111560 obo:IAO_0000115 "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618279"^^xsd:string, "ORDO:476394"^^xsd:string ; oboInOwl:hasExactSynonym "CMT1G"@en, "PMP2-related CMT1"@en, "PMP2-related Charcot-Marie-Tooth disease type 1"@en, "PMP2-related Charcot-Marie-Tooth neuropathy type 1"@en, "PMP2-related hereditary motor and sensory neuropathy type 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111560"^^xsd:string ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease type 1G"^^xsd:string ; rdfs:subClassOf obo:DOID_0050538, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0111561 obo:IAO_0000115 "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5025"^^xsd:string, "MESH:C566112"^^xsd:string, "NCI:C118636"^^xsd:string, "OMIM:184900"^^xsd:string, "ORDO:2833"^^xsd:string, "SNOMEDCT_US_2021_03_01:765187004"^^xsd:string, "UMLS_CUI:C1861456"^^xsd:string ; oboInOwl:hasExactSynonym "SSKS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111561"^^xsd:string ; a owl:Class ; rdfs:label "stiff skin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111562 obo:IAO_0000115 "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4183"^^xsd:string, "OMIM:185000"^^xsd:string, "ORDO:3203"^^xsd:string ; oboInOwl:hasExactSynonym "OHS"@en, "potassium sodium disorder of erythrocyte"@en, "stomatocytosisIOHST"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111562"^^xsd:string ; a owl:Class ; rdfs:label "overhydrated hereditary stomatocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2361, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111563 obo:IAO_0000115 "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:7706"^^xsd:string, "ICD10CM:Q85.8"^^xsd:string, "MESH:D013341"^^xsd:string, "NCI:C3391"^^xsd:string, "OMIM:185300"^^xsd:string, "ORDO:3205"^^xsd:string, "SNOMEDCT_US_2021_03_01:157030004"^^xsd:string, "UMLS_CUI:C0038505"^^xsd:string ; oboInOwl:hasExactSynonym "SWS"@en, "Sturge-Weber-Dimitri syndrome"@en, "Sturge-Weber-Krabbe angiomatosis"@en, "Sturge-Weber-Krabbe syndrome"@en, "encephalofacial angiomatosis"@en, "encephalotrigeminal angiomatosis"@en, "fourth phacomatosis"@en, "leptomeningeal angiomatosis"@en, "meningeal capillary angiomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111563"^^xsd:string ; a owl:Class ; rdfs:label "Sturge-Weber syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_178 . obo:DOID_0111564 obo:IAO_0000115 "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8309"^^xsd:string, "MESH:C535564"^^xsd:string, "OMIM:188740"^^xsd:string, "ORDO:3332"^^xsd:string, "ORDO:988"^^xsd:string, "UMLS_CUI:C1861099"^^xsd:string ; oboInOwl:hasExactSynonym "Werner mesomelic syndrome"@en, "absence of tibia with polydactyly"@en, "absent tibia-polydactyly syndrome"@en, "hypoplastic tibiae-postaxial polydactyly syndrome"@en, "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111564"^^xsd:string ; a owl:Class ; rdfs:label "hypoplastic or aplastic tibia with polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111565 obo:IAO_0000115 "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in DLX3 on chromosome 17q21.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:7799"^^xsd:string, "MESH:C536549"^^xsd:string, "OMIM:190320"^^xsd:string, "ORDO:3352"^^xsd:string, "SNOMEDCT_US_2021_03_01:38993008"^^xsd:string, "UMLS_CUI:C0265333"^^xsd:string ; oboInOwl:hasExactSynonym "TDO syndrome"@en, "tricho-dento-osseous syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111565"^^xsd:string ; a owl:Class ; rdfs:label "trichodontoosseous syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111566 obo:IAO_0000115 "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:190330"^^xsd:string, "ORDO:411788"^^xsd:string ; oboInOwl:hasExactSynonym "TCMGLY"@en, "long eyelashes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111566"^^xsd:string ; a owl:Class ; rdfs:label "familial isolated trichomegaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111567 obo:IAO_0000115 "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1217"^^xsd:string, "MESH:C566007"^^xsd:string, "OMIM:192315"^^xsd:string, "ORDO:247691"^^xsd:string, "SNOMEDCT_US_2021_03_01:783787000"^^xsd:string, "UMLS_CUI:C1860518"^^xsd:string ; oboInOwl:hasExactSynonym "CRV"@en, "RVCL"@en, "RVCL-S"@en, "hereditary cerebroretinal vasculopathy"@en, "retinal vasculopathy and cerebral leukoencephalopathy"@en, "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"@en, "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111567"^^xsd:string ; a owl:Class ; rdfs:label "retinal vasculopathy with cerebral leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111568 obo:IAO_0000115 "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in HOXD10 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5488"^^xsd:string, "MEDDRA:10066242"^^xsd:string, "MESH:D005413"^^xsd:string, "OMIM:192950"^^xsd:string, "ORDO:178382"^^xsd:string, "SNOMEDCT_US_2021_03_01:205359003"^^xsd:string, "UMLS_CUI:C0240912"^^xsd:string ; oboInOwl:hasExactSynonym "CVT"@en, "congenital convex foot"@en, "congenital convex pes valgus"@en, "congenital rocker-bottom foot"@en, "rocker-bottom foot deformity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111568"^^xsd:string ; a owl:Class ; rdfs:label "congenital vertical talus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111569 obo:IAO_0000115 "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in BEST1 on chromosome 11q12.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:5507"^^xsd:string, "MESH:C536352"^^xsd:string, "OMIM:193220"^^xsd:string, "ORDO:3086"^^xsd:string, "SNOMEDCT_US_2021_03_01:711162004"^^xsd:string, "UMLS_CUI:C3888099"^^xsd:string ; oboInOwl:hasExactSynonym "ADVIRC"@en, "VRCP autosomal dominant"@en, "vitreoretinochoroidopathy dominant"@en, "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract"@en, "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111569"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant vitreoretinochoroidopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_8500, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111570 obo:IAO_0000115 "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9706"^^xsd:string, "MESH:C536677"^^xsd:string, "OMIM:193230"^^xsd:string, "ORDO:91496"^^xsd:string, "UMLS_CUI:C1860405"^^xsd:string ; oboInOwl:hasExactSynonym "SVD"@en, "vitreoretinal degeneration, snowflake type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111570"^^xsd:string ; a owl:Class ; rdfs:label "snowflake vitreoretinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9799, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111571 obo:IAO_0000115 "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:497"^^xsd:string, "MESH:C536695"^^xsd:string, "OMIM:193530"^^xsd:string, "ORDO:952"^^xsd:string, "SNOMEDCT_US_2021_03_01:277807007"^^xsd:string, "UMLS_CUI:C0457013"^^xsd:string ; oboInOwl:hasExactSynonym "Curry-Hall syndrome"@en, "WAD"@en, "Weyers acrodental dysostosis"@en, "acrofacial dysostosis, Weyers type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111571"^^xsd:string ; a owl:Class ; rdfs:label "Weyers acrofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060379, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111572 obo:IAO_0000115 "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends."^^xsd:string ; oboInOwl:hasDbXref "GARD:5597"^^xsd:string, "ORDO:170"^^xsd:string, "SNOMEDCT_US_2020_03_01:52564001"^^xsd:string ; oboInOwl:hasExactSynonym "familial wooly hair syndrome"@en, "hereditary woolly hair syndrome"@en, "hereditary wooly hair syndrome"@en, "woolly hair"@en, "wooly hair"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111572"^^xsd:string ; a owl:Class ; rdfs:label "familial woolly hair syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_421 . obo:DOID_0111573 obo:IAO_0000115 "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in KRT74 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:194300"^^xsd:string ; oboInOwl:hasExactSynonym "ADWH"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111573"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant woolly hair"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111572, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111574 obo:IAO_0000115 "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616760"^^xsd:string ; oboInOwl:hasExactSynonym "ARWH3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111574"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive woolly hair 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111572, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111575 obo:IAO_0000115 "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes."^^xsd:string ; oboInOwl:hasDbXref "GARD:5623"^^xsd:string, "MESH:C536764"^^xsd:string, "ORDO:3202"^^xsd:string, "SNOMEDCT_US_2021_03_01:87994004"^^xsd:string, "UMLS_CUI:C0272051"^^xsd:string ; oboInOwl:hasExactSynonym "hereditary desiccytosis"@en, "hereditary xerocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111575"^^xsd:string ; a owl:Class ; rdfs:label "dehydrated hereditary stomatocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_583 . obo:DOID_0111576 obo:IAO_0000115 "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in PIEZO1 on chromosome 16q24.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:194380"^^xsd:string ; oboInOwl:hasExactSynonym "PSHK1"@en, "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema"@en, "pseudohyperkalemia edinburgh"@en, "pseudohyperkalemia familial 1, due to red cell leak"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111576"^^xsd:string ; a owl:Class ; rdfs:label "dehydrated hereditary stomatocytosis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111575, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111577 obo:IAO_0000115 "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in KCNN4 on chromosome 19q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616689"^^xsd:string ; oboInOwl:hasExactSynonym "desiccytosis Gardos"@en, "xerocytosis Gardos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111577"^^xsd:string ; a owl:Class ; rdfs:label "dehydrated hereditary stomatocytosis 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111575, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111578 obo:IAO_0000115 "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:13"^^xsd:string, "MESH:C536370"^^xsd:string, "OMIM:206700"^^xsd:string, "ORDO:1065"^^xsd:string, "SNOMEDCT_US_2021_03_01:253176002"^^xsd:string, "UMLS_CUI:C0431401"^^xsd:string ; oboInOwl:hasExactSynonym "GLSP"@en, "aniridia, cerebellar ataxia and mental deficiency"@en, "aniridia-cerebellar ataxia-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111578"^^xsd:string ; a owl:Class ; rdfs:label "Gillespie syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111579 obo:IAO_0000115 "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps."^^xsd:string ; oboInOwl:hasDbXref "OMIM:208550"^^xsd:string ; oboInOwl:hasExactSynonym "ASA triad"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111579"^^xsd:string ; a owl:Class ; rdfs:label "asthma, nasal polyps, and aspirin intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_1579 . obo:DOID_0111580 obo:IAO_0000115 "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "GARD:849"^^xsd:string, "MESH:C537669"^^xsd:string, "OMIM:210000"^^xsd:string, "SNOMEDCT_US_2021_03_01:66988006"^^xsd:string, "UMLS_CUI:C0221061"^^xsd:string ; oboInOwl:hasExactSynonym "Abortive cerebellar ataxia (BEHRS)"@en, "BEHRS"@en, "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss"@en, "optic atrophy, infantile hereditary, Behr complicated form of"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111580"^^xsd:string ; a owl:Class ; rdfs:label "Behr syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_863, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111581 obo:IAO_0000115 "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:5978"^^xsd:string, "MESH:C537418"^^xsd:string, "OMIM:211750"^^xsd:string, "ORDO:1308"^^xsd:string, "SNOMEDCT_US_2021_03_01:715409005"^^xsd:string, "UMLS_CUI:C0796095"^^xsd:string ; oboInOwl:hasExactSynonym "OTCS"@en, "Opitz C trigonocephaly"@en, "Opitz trigonocephaly C syndrome"@en, "Opitz trigonocephaly syndrome"@en, "trigonocephaly C syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111581"^^xsd:string ; a owl:Class ; rdfs:label "C syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111582 obo:IAO_0000115 "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10762"^^xsd:string, "OMIM:211800"^^xsd:string, "ORDO:289601"^^xsd:string ; oboInOwl:hasExactSynonym "CALJA"@en, "arterial calcification and distal joint calcification"@en, "arterial calcification due to CD73 deficiency"@en, "arterial calcification due to deficiency of CD73:ACDC"@en, "calcification of joints and arteries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111582"^^xsd:string ; a owl:Class ; rdfs:label "hereditary arterial and articular multiple calcification syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111583 obo:IAO_0000115 "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in CPN1 on chromosome 10q24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562876"^^xsd:string, "NCI:C132196"^^xsd:string, "OMIM:212070"^^xsd:string, "SNOMEDCT_US_2021_03_01:234627009"^^xsd:string, "UMLS_CUI:C0398782"^^xsd:string ; oboInOwl:hasExactSynonym "anaphylotoxin inactivator deficiency"@en, "deficiency of carboxypeptidase B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111583"^^xsd:string ; a owl:Class ; rdfs:label "carboxypeptidase N deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2345, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111584 obo:IAO_0000115 "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in LMNA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:3373"^^xsd:string, "MESH:C535580"^^xsd:string, "MESH:C535703"^^xsd:string, "NCI:C174217"^^xsd:string, "OMIM:212112"^^xsd:string, "ORDO:2229"^^xsd:string, "SNOMEDCT_US_2021_03_01:719451006"^^xsd:string, "UMLS_CUI:C0796031"^^xsd:string, "UMLS_CUI:C0796083"^^xsd:string ; oboInOwl:hasExactSynonym "Malouf syndrome"@en, "Najjar syndrome"@en, "cardiogenital syndrome"@en, "cardiomyopathy eith primary testicular failure"@en, "congestive cardiomyopathy with hypergonadotropic hypogonadism"@en, "dilated cardiomyopathy with hypergonadotropic hypogonadism"@en, "dilated cardiomyopathy with premature ovarian failure"@en, "genital anomaly with cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111584"^^xsd:string ; a owl:Class ; rdfs:label "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111585 obo:IAO_0000115 "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:1123"^^xsd:string, "MESH:C562812"^^xsd:string, "NCI:C133086"^^xsd:string, "OMIM:212138"^^xsd:string, "ORDO:159"^^xsd:string, "SNOMEDCT_US_2021_03_01:238003000"^^xsd:string, "UMLS_CUI:C0342791"^^xsd:string ; oboInOwl:hasExactSynonym "CACT deficiency"@en, "CACTD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111585"^^xsd:string ; a owl:Class ; rdfs:label "carnitine-acylcarnitine translocase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111586 obo:IAO_0000115 "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41."^^xsd:string ; oboInOwl:hasDbXref "GARD:3406"^^xsd:string, "MESH:C536028"^^xsd:string, "OMIM:212720"^^xsd:string, "ORDO:1387"^^xsd:string, "SNOMEDCT_US_2021_03_01:722380003"^^xsd:string, "UMLS_CUI:C0796037"^^xsd:string ; oboInOwl:hasExactSynonym "cataract-intellectual disability-hypogonadism syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111586"^^xsd:string ; a owl:Class ; rdfs:label "Martsolf syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111587 obo:IAO_0000115 "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565870"^^xsd:string, "OMIM:212840"^^xsd:string, "ORDO:1173"^^xsd:string, "UMLS_CUI:C1859305"^^xsd:string ; oboInOwl:hasExactSynonym "CAHH"@en, "GDHS"@en, "LHRH deficiency and ataxia"@en, "cerebellar ataxia-hypogonadism syndrome"@en, "luteinizing hormone-releasing hormone deficiency with ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111587"^^xsd:string ; a owl:Class ; rdfs:label "Gordon Holmes syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111588 obo:IAO_0000115 "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:8754"^^xsd:string, "MESH:C535858"^^xsd:string, "OMIM:215140"^^xsd:string, "ORDO:1426"^^xsd:string, "SNOMEDCT_US_2021_03_01:389261002"^^xsd:string, "UMLS_CUI:C2931048"^^xsd:string ; oboInOwl:hasExactSynonym "GRBGD"@en, "Greenberg skeletal dysplasia"@en, "HEM dysplasia"@en, "Skeletal dysplasia, Greenberg type"@en, "autosomal recessive lethal chondrodystrophy with congenital hydrops"@en, "hydrops, ectopic calcification, moth-eaten skeletal dysplasia"@en, "hydrops-ectopic calcification-motheaten syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111588"^^xsd:string ; a owl:Class ; rdfs:label "Greenberg dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111589 obo:IAO_0000115 "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L)."^^xsd:string ; oboInOwl:hasDbXref "GARD:1410"^^xsd:string, "MESH:C536430"^^xsd:string, "OMIM:216360"^^xsd:string, "ORDO:1454"^^xsd:string, "SNOMEDCT_US_2021_03_01:721847002"^^xsd:string, "UMLS_CUI:C1857662"^^xsd:string ; oboInOwl:hasExactSynonym "Gentile syndrome"@en, "JS-H"@en, "Joubert syndrome with congenital hepatic fibrosis"@en, "Joubert syndrome with hepatic defect"@en, "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111589"^^xsd:string ; a owl:Class ; rdfs:label "COACH syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111590 obo:IAO_0000115 "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:6126"^^xsd:string, "MEDDRA:10049066"^^xsd:string, "MESH:C536438"^^xsd:string, "OMIM:216550"^^xsd:string, "ORDO:193"^^xsd:string, "SNOMEDCT_US_2021_03_01:56604005"^^xsd:string, "UMLS_CUI:C0265223"^^xsd:string ; oboInOwl:hasExactSynonym "COH1"@en, "Hypotonia, obesity, and prominent incisors"@en, "Pepper syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111590"^^xsd:string ; a owl:Class ; rdfs:label "Cohen syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111591 obo:IAO_0000115 "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "GARD:4166"^^xsd:string, "MESH:C535849"^^xsd:string, "OMIM:217085"^^xsd:string, "ORDO:1338"^^xsd:string, "SNOMEDCT_US_2021_03_01:783738002"^^xsd:string, "UMLS_CUI:C2931046"^^xsd:string ; oboInOwl:hasExactSynonym "CHDTHP"@en, "Ostravik-Lindemann-Solberg syndrome"@en, "heart defect-tongue hamartoma-polysyndactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111591"^^xsd:string ; a owl:Class ; rdfs:label "congenital heart defects, hamartomas of tongue, and polysyndactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111592 obo:IAO_0000115 "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:4380"^^xsd:string, "ICD10CM:E88.02"^^xsd:string, "MESH:C566897"^^xsd:string, "MESH:C580017"^^xsd:string, "OMIM:217090"^^xsd:string, "ORDO:722"^^xsd:string, "SNOMEDCT_US_2021_03_01:95840007"^^xsd:string, "SNOMEDCT_US_2021_03_01:95844003"^^xsd:string, "UMLS_CUI:C0398621"^^xsd:string, "UMLS_CUI:C1968804"^^xsd:string ; oboInOwl:hasExactSynonym "hypoplasminogenemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111592"^^xsd:string ; a owl:Class ; rdfs:label "plasminogen deficiency type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111593 obo:IAO_0000115 "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566069"^^xsd:string, "OMIM:187370"^^xsd:string, "ORDO:251515"^^xsd:string ; oboInOwl:hasExactSynonym "DA10"@en, "plantar flexion contracture"@en, "short Achilles tendon"@en, "short tendo calcaneus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111593"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111594 obo:IAO_0000115 "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615065"^^xsd:string, "ORDO:329457"^^xsd:string, "SNOMEDCT_US_2020_03_01:773396009"^^xsd:string ; oboInOwl:hasExactSynonym "DA5D"@en, "distal arthrogryposis type 5 without ophthalmoparesis"@en, "distal arthrogryposis type 5 without ophthalmoplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111594"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 5D"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111595 obo:IAO_0000115 "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536211"^^xsd:string, "NCI:C129865"^^xsd:string, "OMIM:121050"^^xsd:string, "ORDO:115"^^xsd:string, "SNOMEDCT_US_2021_03_01:205821003"^^xsd:string, "UMLS_CUI:C0220668"^^xsd:string ; oboInOwl:hasExactSynonym "Beals syndrome"@en, "Beals-Hecht syndrome"@en, "CCA"@en, "arachnodactyly, contractural Beals type"@en, "contractures, multiple with arachnodactyly"@en, "distal arthrogryposis type 9"@en, "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111595"^^xsd:string ; a owl:Class ; rdfs:label "congenital contractural arachnodactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111596 obo:IAO_0000115 "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies."^^xsd:string ; oboInOwl:hasDbXref "GARD:787"^^xsd:string, "MESH:C565097"^^xsd:string, "OMIM:126050"^^xsd:string, "ORDO:1146"^^xsd:string, "SNOMEDCT_US_2020_03_01:715314008"^^xsd:string ; oboInOwl:hasExactSynonym "DA1"@en, "digitotalar dysmorphism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111596"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111597 obo:IAO_0000115 "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in TPM2 on chromosome 9p13.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535378"^^xsd:string, "OMIM:108120"^^xsd:string ; oboInOwl:hasExactSynonym "DA1A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111597"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111596, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111598 obo:IAO_0000115 "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in MYBPC1 on chromosome 12q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614335"^^xsd:string ; oboInOwl:hasExactSynonym "DA1B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111598"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111596, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111599 obo:IAO_0000115 "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538400"^^xsd:string, "ORDO:1147"^^xsd:string, "SNOMEDCT_US_2020_03_01:715216008"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B"@en, "Freeman-Sheldon syndrome variant"@en, "Sheldon-Hall syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111599"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111600 obo:IAO_0000115 "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNI2 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601680"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111600"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111599, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111601 obo:IAO_0000115 "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNT3 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618435"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111601"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111599, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111602 obo:IAO_0000115 "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618436"^^xsd:string ; oboInOwl:hasExactSynonym "DA2B3"@en, "distal arthrogryposis type 2B3 (Sheldon-Hall)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111602"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2B3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111599, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111603 obo:IAO_0000115 "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2621"^^xsd:string, "MESH:C535857"^^xsd:string, "OMIM:121070"^^xsd:string, "OMIM:158300"^^xsd:string, "ORDO:3377"^^xsd:string, "SNOMEDCT_US_2020_03_01:8757006"^^xsd:string ; oboInOwl:hasExactSynonym "DA7"@en, "Dutch-Kentucky syndrome"@en, "Hecht syndrome"@en, "Hecht-Beals syndrome"@en, "mouth, inability to completely open, and short finger-flexor tendons"@en, "trismus-pseudocamptodactyly syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111603"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111604 obo:IAO_0000115 "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q87.0"^^xsd:string, "MESH:C535483"^^xsd:string, "NCI:C98931"^^xsd:string, "OMIM:193700"^^xsd:string, "ORDO:2053"^^xsd:string, "SNOMEDCT_US_2020_03_01:205799002"^^xsd:string ; oboInOwl:hasExactSynonym "craniocarpotarsal dysplasia"@en, "craniocarpotarsal dystrophy"@en, "whistling face syndrome"@en, "whistling face-windmill vane hand syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111604"^^xsd:string ; a owl:Class ; rdfs:label "Freeman-Sheldon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111605 obo:IAO_0000115 "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:193700"^^xsd:string ; oboInOwl:hasExactSynonym "DA2A"@en, "distal arthrogryposis type 2A (Freeman-Sheldon)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111605"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111604, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111606 obo:IAO_0000115 "A Freeman-Sheldon syndrome that has autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:100024"^^xsd:string, "OMIM:277720"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111606"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive Whistling face syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111604, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111607 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:2553"^^xsd:string, "MESH:C537288"^^xsd:string, "OMIM:114300"^^xsd:string, "ORDO:376"^^xsd:string, "SNOMEDCT_US_2020_03_01:237850008"^^xsd:string ; oboInOwl:hasExactSynonym "DA3"@en, "Gordon syndrome"@en, "camptodactyly-cleft palate-clubfoot syndrome"@en, "distal arthrogryposis multiplex congenita type IIA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111607"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111608 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in PIEZO2 on chromosome 18p11.22-p11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4047"^^xsd:string, "MESH:C537737"^^xsd:string, "OMIM:108145"^^xsd:string, "SNOMEDCT_US_2020_03_01:715217004"^^xsd:string ; oboInOwl:hasExactSynonym "DA5"@en, "DAIIB"@en, "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"@en, "distal arthrogryposis type IIB"@en, "distal arthrogryposis with ophthalmoplegia"@en, "oculomelic amyoplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111608"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111609 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness."^^xsd:string ; oboInOwl:hasDbXref "GARD:784"^^xsd:string, "MESH:C535386"^^xsd:string, "OMIM:108200"^^xsd:string, "ORDO:1144"^^xsd:string, "SNOMEDCT_US_2020_03_01:720515009"^^xsd:string ; oboInOwl:hasExactSynonym "DA6"@en, "arthrogryposis and sensorineural deafness"@en, "arthrogryposis-like hand anomaly-sensorineural deafness syndrome"@en, "familial hand abnormality and sensori-neural deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111609"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111610 obo:IAO_0000115 "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563791"^^xsd:string, "OMIM:609128"^^xsd:string, "ORDO:65720"^^xsd:string, "SNOMEDCT_US_2020_03_01:715575001"^^xsd:string ; oboInOwl:hasExactSynonym "DA4"@en, "DAIID"@en, "arthrogryposis-severe scoliosis syndrome"@en, "distal arthrogryposis type IID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111610"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050646 . obo:DOID_0111611 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:4952"^^xsd:string, "MESH:C537310"^^xsd:string, "OMIM:607317"^^xsd:string, "ORDO:95434"^^xsd:string, "UMLS_CUI:C1846492"^^xsd:string ; oboInOwl:hasExactSynonym "SCA24"@en, "SCAR4"@en, "SCASI"@en, "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"@en, "spinocerebellar ataxia 24"@en, "spinocerebellar ataxia with saccadic intrusions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111611"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111612 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21."^^xsd:string ; oboInOwl:hasDbXref "GARD:9971"^^xsd:string, "MESH:C537309"^^xsd:string, "OMIM:271250"^^xsd:string, "ORDO:95433"^^xsd:string, "UMLS_CUI:C1849094"^^xsd:string ; oboInOwl:hasExactSynonym "SCABD"@en, "SCAR3"@en, "autosomal recessive spinocerebellar ataxia type 3"@en, "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"@en, "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111612"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111613 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in TDP2 on chromosome 6p22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616949"^^xsd:string, "ORDO:404493"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR23"@en, "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111613"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111614 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in VWA3B on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616948"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR22"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111614"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111615 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in UBA5 on chromosome 3q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617133"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR24"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111615"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111616 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in GDAP2 on chromosome 1p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618369"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR27"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111616"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111617 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:4954"^^xsd:string, "MESH:C537312"^^xsd:string, "OMIM:608029"^^xsd:string, "ORDO:284332"^^xsd:string, "UMLS_CUI:C1842676"^^xsd:string ; oboInOwl:hasExactSynonym "SCAR6"@en, "autosomal recessive spinocerebellar ataxia type 6"@en, "infantile-onset autosomal recessive nonprogressive cerebellar ataxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111617"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111618 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12234"^^xsd:string, "MESH:C565188"^^xsd:string, "OMIM:610743"^^xsd:string, "ORDO:88644"^^xsd:string, "UMLS_CUI:C1853116"^^xsd:string ; oboInOwl:hasExactSynonym "ARCA1"@en, "Autosomal recessive cerebellar ataxia type 1"@en, "SCAR8"@en, "SYNE1-related autosomal recessive cerebellar ataxia"@en, "autosomal recessive ataxia, Beauce type"@en, "recessive ataxia of Beauce"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111618"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spinocerebellar ataxia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 . obo:DOID_0111619 obo:IAO_0000115 "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615182"^^xsd:string, "ORDO:356978"^^xsd:string, "SNOMEDCT_US_2021_03_01:713401006"^^xsd:string, "UMLS_CUI:C4076194"^^xsd:string ; oboInOwl:hasExactSynonym "D,L-2-HGA"@en, "D,L-2-hydroxyglutaric acidemia"@en, "D,L-2-hydroxyglutaric aciduria"@en, "combined D,L-2-hydroxyglutaric aciduria"@en, "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia"@en, "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111619"^^xsd:string ; a owl:Class ; rdfs:label "combined D-2- and L-2-hydroxyglutaric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050573, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111620 obo:IAO_0000115 "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13."^^xsd:string ; oboInOwl:hasDbXref "GARD:1529"^^xsd:string, "MESH:C535473"^^xsd:string, "OMIM:217400"^^xsd:string, "ORDO:1490"^^xsd:string, "SNOMEDCT_US_2021_03_01:720749004"^^xsd:string, "UMLS_CUI:C1857572"^^xsd:string ; oboInOwl:hasExactSynonym "CDPD"@en, "CDPD1"@en, "Harboyan syndrome"@en, "corneal dystrophy and perceptive deafness"@en, "corneal dystrophy with progressive deafness"@en, "corneal endothelial dystrophy and perceptive deafness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111620"^^xsd:string ; a owl:Class ; rdfs:label "corneal dystrophy-perceptive deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111621 obo:IAO_0000115 "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:5688"^^xsd:string, "MESH:C536959"^^xsd:string, "NCI:C148371"^^xsd:string, "OMIM:218340"^^xsd:string, "ORDO:1777"^^xsd:string, "SNOMEDCT_US_2021_03_01:719947004"^^xsd:string, "UMLS_CUI:C1857512"^^xsd:string ; oboInOwl:hasExactSynonym "Temtamy-Shalash syndrome"@en, "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation"@en, "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome"@en, "dysmorphism, corpus callosum agenesis and colobomas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111621"^^xsd:string ; a owl:Class ; rdfs:label "Temtamy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111622 obo:IAO_0000115 "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol."^^xsd:string ; oboInOwl:hasDbXref "GARD:10824"^^xsd:string, "ORDO:189427"^^xsd:string, "SNOMEDCT_US_2021_03_01:720459002"^^xsd:string, "UMLS_CUI:C2062388"^^xsd:string ; oboInOwl:hasExactSynonym "ACTH-independent macronodular adrenocortical hyperplasia"@en, "AIMAH"@en, "Cushing syndrome due to macronodular adrenal hyperplasia"@en, "MMAD"@en, "Primary macronodular adrenal hyperplasia"@en, "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia"@en, "corticotropin-independent macronodular adrenal hyperplasia"@en, "massive macronodular adrenocortical disease"@en, "primary macronodular adrenal hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111622"^^xsd:string ; a owl:Class ; rdfs:label "ACTH-independent macronodular adrenal hyperplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_446 . obo:DOID_0111623 obo:IAO_0000115 "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:219080"^^xsd:string ; oboInOwl:hasExactSynonym "AIMAH1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111623"^^xsd:string ; a owl:Class ; rdfs:label "ACTH-independent macronodular adrenal hyperplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111622 . obo:DOID_0111624 obo:IAO_0000115 "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in ARMC5 on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615954"^^xsd:string ; oboInOwl:hasExactSynonym "AIMAH2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111624"^^xsd:string ; a owl:Class ; rdfs:label "ACTH-independent macronodular adrenal hyperplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111622 . obo:DOID_0111625 obo:IAO_0000115 "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565657"^^xsd:string, "OMIM:219730"^^xsd:string, "ORDO:443988"^^xsd:string, "UMLS_CUI:C1857423"^^xsd:string ; oboInOwl:hasExactSynonym "VMCKD"@en, "congenital nephrosis-cerebral ventriculomegaly syndrome"@en, "cystic kidney disease with ventriculomegaly"@en, "ventriculomegaly with cystic kidney disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111625"^^xsd:string ; a owl:Class ; rdfs:label "ventriculomegaly - cystic kidney disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111626 obo:IAO_0000115 "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:234"^^xsd:string, "ICD10CM:E72.59"^^xsd:string, "MESH:C535767"^^xsd:string, "OMIM:220120"^^xsd:string, "ORDO:941"^^xsd:string, "UMLS_CUI:C1291386"^^xsd:string ; oboInOwl:hasExactSynonym "D-glycerate kinase deficiency"@en, "D-glyceric acidemia"@en, "D-glycericacidemia"@en, "deficiency of glycerate kinase"@en, "non ketotic hyperglycinemia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111626"^^xsd:string ; a owl:Class ; rdfs:label "D-glyceric aciduria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111627 obo:IAO_0000115 "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:1685"^^xsd:string, "MESH:C538204"^^xsd:string, "OMIM:220500"^^xsd:string, "ORDO:79500"^^xsd:string, "UMLS_CUI:C0795927"^^xsd:string ; oboInOwl:hasExactSynonym "DOOR syndrome"@en, "DOORS"@en, "autosomal recessive deafness-onychodystrophy syndrome"@en, "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome"@en, "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome"@en, "deafness-onychoosteodystrophy-intellectual disability syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111627"^^xsd:string ; a owl:Class ; rdfs:label "DOORS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111628 obo:IAO_0000115 "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12844"^^xsd:string, "OMIM:221200"^^xsd:string, "ORDO:363396"^^xsd:string ; oboInOwl:hasExactSynonym "DFNMYP"@en, "deafness and myopia"@en, "deafness and myopia syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111628"^^xsd:string ; a owl:Class ; rdfs:label "high myopia-sensorineural deafness syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111629 obo:IAO_0000115 "A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:12347"^^xsd:string, "MESH:C562815"^^xsd:string, "OMIM:222748"^^xsd:string, "ORDO:38874"^^xsd:string, "SNOMEDCT_US_2021_03_01:238014002"^^xsd:string, "UMLS_CUI:C0342803"^^xsd:string ; oboInOwl:hasExactSynonym "DPH deficiency"@en, "DPYS deficiency"@en, "DPYSD"@en, "dihydropyrimidinuria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111629"^^xsd:string ; a owl:Class ; rdfs:label "dihydropyrimidinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0050832, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111630 obo:IAO_0000115 "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:222800"^^xsd:string, "ORDO:714"^^xsd:string ; oboInOwl:hasExactSynonym "BPGM deficiency"@en, "DPGM deficiency"@en, "ECYT8"@en, "bisphosphoglycerate mutase deficiency"@en, "bisphosphoglyceromutase deficiency"@en, "diphosphoglycerate mutase deficiency of erythrocyte"@en, "hemolytic anemia due to diphosphoglycerate mutase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111630"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 8"^^xsd:string ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0111631 obo:IAO_0000115 "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either HBA2 or HBA1 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617981"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT7"@en, "alpha-globin type erythrocytosis"@en, "alpha-globin type polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111631"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 7"^^xsd:string ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0111632 obo:IAO_0000115 "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617980"^^xsd:string ; oboInOwl:hasExactSynonym "ECYT6"@en, "beta-globin type erythrocytosis"@en, "beta-globin type polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111632"^^xsd:string ; a owl:Class ; rdfs:label "familial erythrocytosis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_10780 . obo:DOID_0111633 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7710"^^xsd:string, "ICD10CM:E74.31"^^xsd:string, "MEDDRA:10066387"^^xsd:string, "MESH:C538139"^^xsd:string, "NCI:C128190"^^xsd:string, "OMIM:222900"^^xsd:string, "ORDO:35122"^^xsd:string, "SNOMEDCT_US_2021_03_01:78373000"^^xsd:string, "UMLS_CUI:C1283620"^^xsd:string ; oboInOwl:hasExactSynonym "CSID"@en, "SI deficiency"@en, "congenital sucrase-isomaltose malabsorption"@en, "congenital sucrose intolerance"@en, "disaccharide intolerance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111633"^^xsd:string ; a owl:Class ; rdfs:label "congenital sucrase-isomaltase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111634 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in TMEM132E on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618481"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB99"@en, "autosomal recessive deafness 99"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111634"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 99"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111635 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618003"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB57"@en, "autosomal recessive deafness 57"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111635"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111636 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in CEACAM16 on chromosome 19q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618410"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB113"@en, "autosomal recessive deafness 113"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111636"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 113"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111637 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in BDP1 on chromosome 5q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618257"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB112"@en, "autosomal recessive deafness 112"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111637"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 112"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111638 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in PPIP5K2 on chromosome 5q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618422"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB100"@en, "autosomal recessive deafness 100"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111638"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 100"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111639 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in ESRP1 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618013"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB109"@en, "autosomal recessive deafness 109"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111639"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 109"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111640 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in MPZL2 on chromosome 11q23.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618145"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB111"@en, "autosomal recessive deafness 111"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111640"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 111"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111641 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618434"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB94"@en, "autosomal recessive deafness 94"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111641"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 94"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111642 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in GRAP on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618456"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB114"@en, "autosomal recessive deafness 114"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111642"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 114"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111643 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in SPNS2 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618457"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB115"@en, "autosomal recessive deafness 115"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111643"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 115"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111644 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in COCH on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618094"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB110"@en, "autosomal recessive deafness 110"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111644"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 110"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0111645 obo:IAO_0000115 "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608105"^^xsd:string, "ORDO:163727"^^xsd:string ; oboInOwl:hasExactSynonym "EPRPDC"@en, "RE-PED-WC"@en, "Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp"@en, "Rolandic-type focal motor epilepsy and exercise-induced dystonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111645"^^xsd:string ; a owl:Class ; rdfs:label "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050703, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111646 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E73.0"^^xsd:string, "MESH:C562600"^^xsd:string, "OMIM:223000"^^xsd:string, "ORDO:53690"^^xsd:string, "SNOMEDCT_US_2021_03_01:5388008"^^xsd:string, "UMLS_CUI:C0268179"^^xsd:string ; oboInOwl:hasExactSynonym "CLD"@en, "congenital alactasia"@en, "congenital alactasia syndrome"@en, "congenital lactose intolerance"@en, "congenital lactose malabsorption"@en, "disaccharide intolerance II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111646"^^xsd:string ; a owl:Class ; rdfs:label "congenital lactase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080015, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111647 obo:IAO_0000115 "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565607"^^xsd:string, "OMIM:224750"^^xsd:string, "ORDO:50944"^^xsd:string, "SNOMEDCT_US_2021_03_01:700062000"^^xsd:string, "UMLS_CUI:C1857069"^^xsd:string ; oboInOwl:hasExactSynonym "SSPS"@en, "eccrine tumors-ectodermal dysplasia"@en, "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome"@en, "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome"@en, "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111647"^^xsd:string ; a owl:Class ; rdfs:label "Schopf-Schulz-Passarge syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111648 obo:IAO_0000115 "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in ADAMTSL4 on chromosome 1q21.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563268"^^xsd:string, "OMIM:225200"^^xsd:string, "SNOMEDCT_US_2021_03_01:419237004"^^xsd:string, "UMLS_CUI:C1644196"^^xsd:string ; oboInOwl:hasExactSynonym "ectopia lentis et pupillae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111648"^^xsd:string ; a owl:Class ; rdfs:label "ectopia lentis with ectopia of pupil"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111649 obo:IAO_0000115 "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2078"^^xsd:string, "OMIM:225280"^^xsd:string, "ORDO:1897"^^xsd:string ; oboInOwl:hasExactSynonym "EEM syndrome"@en, "EEMS"@en, "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111649"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111650 obo:IAO_0000115 "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617392"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD13"@en, "ectodermal dysplasia 13, hair/tooth type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111650"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111651 obo:IAO_0000115 "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in CST6 on chromosome 11q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618535"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD15"@en, "ectodermal dysplasia 15, hypohidrotic/hair type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111651"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111652 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in KDF1 on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617337"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD12"@en, "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111652"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111653 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDARADD on chromosome 1q42-q43."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614940"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD11A"@en, "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111653"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 11A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111654 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614941"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD11B"@en, "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111654"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 11B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111655 obo:IAO_0000115 "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566592"^^xsd:string, "ORDO:69084"^^xsd:string, "UMLS_CUI:C1865951"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111655"^^xsd:string ; a owl:Class ; rdfs:label "pure hair and nail ectodermal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0111656 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in HOXC13 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614931"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD9"@en, "ectodermal dysplasia 9, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111656"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111657 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614927"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD5"@en, "ectodermal dysplasia 5, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111657"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111658 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT85 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602032"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD4"@en, "ectodermal dysplasia 4, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111658"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111659 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614928"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD6"@en, "ectodermal dysplasia 6, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111659"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111660 obo:IAO_0000115 "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614929"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD7"@en, "ectodermal dysplasia 7, hair/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111660"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111661 obo:IAO_0000115 "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602401"^^xsd:string, "ORDO:99672"^^xsd:string, "SNOMEDCT_US_2021_03_01:239020008"^^xsd:string, "UMLS_CUI:C0406715"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD8"@en, "Fried's tooth and nail syndrome"@en, "ectodermal dysplasia 8, hair/tooth/nail type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111661"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111662 obo:IAO_0000115 "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in TSPEAR on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618180"^^xsd:string ; oboInOwl:hasExactSynonym "ECTN14"@en, "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111662"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2121, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111663 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDAR on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:129490"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD10A"@en, "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111663"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 10A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111664 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:D053358"^^xsd:string, "NCI:C84562"^^xsd:string, "OMIM:305100"^^xsd:string, "ORDO:181"^^xsd:string, "SNOMEDCT_US_2021_03_01:239007005"^^xsd:string, "UMLS_CUI:C0162359"^^xsd:string ; oboInOwl:hasExactSynonym "CST syndrome"@en, "Christ-Siemens-Touraine syndrome"@en, "ED1"@en, "HED1"@en, "X-linked anhidrotic ectodermal dysplasia"@en, "XHED"@en, "XLHED"@en, "ectodermal dysplasia 1, anhidrotic"@en, "ectodermal dysplasia 1, hypohidrotic, X-linked"@en, "ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked"@en, "hypohidrotic ectodermal dysplasia, X-Linked"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111664"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111665 obo:IAO_0000115 "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:224900"^^xsd:string ; oboInOwl:hasExactSynonym "ECTD10B"@en, "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111665"^^xsd:string ; a owl:Class ; rdfs:label "ectodermal dysplasia 10B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14793, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111666 obo:IAO_0000115 "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3."^^xsd:string ; oboInOwl:hasDbXref "MEDDRA:10071718"^^xsd:string, "MESH:C565593"^^xsd:string, "OMIM:225790"^^xsd:string, "ORDO:221126"^^xsd:string, "SNOMEDCT_US_2021_03_01:700242002"^^xsd:string, "UMLS_CUI:C1856972"^^xsd:string, "UMLS_CUI:C3203738"^^xsd:string ; oboInOwl:hasExactSynonym "EPV"@en, "Fowler syndrome"@en, "Fowler vasculopathy"@en, "PVHH"@en, "cerebral proliferative glomeruloid vasculopathy"@en, "encephaloclastic proliferative vasculopathy"@en, "hydranencephaly, Fowler type"@en, "hydrocephaly/hydranencephaly due to cerebral vasculopathy"@en, "proliferative vasculopathy and hydranencephaly/hydrocephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111666"^^xsd:string ; a owl:Class ; rdfs:label "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111667 obo:IAO_0000115 "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562649"^^xsd:string, "OMIM:226200"^^xsd:string, "ORDO:168601"^^xsd:string, "SNOMEDCT_US_2021_03_01:190952002"^^xsd:string, "UMLS_CUI:C0268416"^^xsd:string ; oboInOwl:hasExactSynonym "congenital enterokinase deficiency"@en, "congenital enteropathy due to enteropeptidase deficiency"@en, "deficiency of enteropeptidase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111667"^^xsd:string ; a owl:Class ; rdfs:label "enterokinase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111668 obo:IAO_0000115 "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3128"^^xsd:string, "MESH:C537213"^^xsd:string, "OMIM:226750"^^xsd:string, "ORDO:1946"^^xsd:string, "SNOMEDCT_US_2021_03_01:109478007"^^xsd:string, "UMLS_CUI:C0406740"^^xsd:string ; oboInOwl:hasExactSynonym "KTZS"@en, "Kohlschutter's syndrome"@en, "amelocerebrohypohidrotic syndrome"@en, "epilepsy and yellow teeth"@en, "epilepsy dementia amelogenesis imperfecta"@en, "epilepsy-dementia-amelogenesis imperfecta syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111668"^^xsd:string ; a owl:Class ; rdfs:label "Kohlschutter-Tonz syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111669 obo:IAO_0000115 "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:D057770"^^xsd:string, "NCI:C98297"^^xsd:string, "OMIM:228600"^^xsd:string, "ORDO:498474"^^xsd:string, "SNOMEDCT_US_2021_03_01:238861002"^^xsd:string, "UMLS_CUI:C2745948"^^xsd:string ; oboInOwl:hasExactSynonym "HFS"@en, "inherited systemic hyalinosis"@en, "puretic syndrome"@en, "systemic hyalinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111669"^^xsd:string ; a owl:Class ; rdfs:label "hyaline fibromatosis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_65, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111670 obo:IAO_0000115 "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:2835"^^xsd:string, "MESH:C536414"^^xsd:string, "NCI:C123212"^^xsd:string, "OMIM:259900"^^xsd:string, "ORDO:93598"^^xsd:string, "SNOMEDCT_US_2021_03_01:65520001"^^xsd:string, "UMLS_CUI:C0268164"^^xsd:string ; oboInOwl:hasExactSynonym "HP1"@en, "alanine-glyoxylate aminotransferase deficiency"@en, "glycolic aciduria"@en, "hepatic AGT deficiency"@en, "oxalosis I"@en, "peroxisomal alanine-glyoxylate aminotransferase deficiency"@en, "serine:pyruvate aminotransferase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111670"^^xsd:string ; a owl:Class ; rdfs:label "primary hyperoxaluria type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_2977 . obo:DOID_0111671 obo:IAO_0000115 "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2836"^^xsd:string, "MESH:C536415"^^xsd:string, "NCI:C123213"^^xsd:string, "OMIM:260000"^^xsd:string, "ORDO:93599"^^xsd:string, "SNOMEDCT_US_2021_03_01:40951006"^^xsd:string, "UMLS_CUI:C0268165"^^xsd:string ; oboInOwl:hasExactSynonym "D-glycerate dehydrogenase deficiency"@en, "HP2"@en, "L-glyceric aciduria"@en, "oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111671"^^xsd:string ; a owl:Class ; rdfs:label "primary hyperoxaluria type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_2977 . obo:DOID_0111672 obo:IAO_0000115 "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in HOGA1 on chromosome 10q24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10738"^^xsd:string, "NCI:C123214"^^xsd:string, "OMIM:613616"^^xsd:string, "ORDO:93600"^^xsd:string, "SNOMEDCT_US_2021_03_01:734990008"^^xsd:string, "UMLS_CUI:C3150878"^^xsd:string ; oboInOwl:hasExactSynonym "HP3"@en, "PH III"@en, "primary hyperoxaluria type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111672"^^xsd:string ; a owl:Class ; rdfs:label "primary hyperoxaluria type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2977 . obo:DOID_0111673 obo:IAO_0000115 "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618150"^^xsd:string, "ORDO:85172"^^xsd:string, "SNOMEDCT_US_2021_03_01:389197004"^^xsd:string, "UMLS_CUI:C1300285"^^xsd:string ; oboInOwl:hasExactSynonym "SWILS"@en, "microcephalic osteodysplastic dysplasia, Saul-Wilson type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111673"^^xsd:string ; a owl:Class ; rdfs:label "Saul-Wilson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111674 obo:IAO_0000115 "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618687"^^xsd:string ; oboInOwl:hasExactSynonym "IDDSSBA"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111674"^^xsd:string ; a owl:Class ; rdfs:label "intellectual developmental disorder with short stature and behavioral abnormalities"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111675 obo:IAO_0000115 "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in WDR37 on chromosome 10p15.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618652"^^xsd:string ; oboInOwl:hasExactSynonym "NOCGUS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111675"^^xsd:string ; a owl:Class ; rdfs:label "neurooculocardiogenitourinary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111676 obo:IAO_0000115 "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2684"^^xsd:string, "MESH:C537060"^^xsd:string, "NCI:C98946"^^xsd:string, "OMIM:228960"^^xsd:string, "ORDO:483"^^xsd:string, "SNOMEDCT_US_2021_03_01:27312002"^^xsd:string, "UMLS_CUI:C0272340"^^xsd:string ; oboInOwl:hasExactSynonym "Fitzgerald trait"@en, "HMWK deficiency"@en, "congenital high-molecular-weight kininogen deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111676"^^xsd:string ; a owl:Class ; rdfs:label "high molecular weight kininogen deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111677 obo:IAO_0000115 "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in PLA2G5 on chromosome 1p36.13."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565564"^^xsd:string, "OMIM:228980"^^xsd:string, "ORDO:363989"^^xsd:string, "SNOMEDCT_US_2021_03_01:770434009"^^xsd:string, "UMLS_CUI:C1856718"^^xsd:string ; oboInOwl:hasExactSynonym "FRFB"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111677"^^xsd:string ; a owl:Class ; rdfs:label "familial benign fleck retina"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5679, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111678 obo:IAO_0000115 "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12983"^^xsd:string, "MESH:C562799"^^xsd:string, "NCI:C156424"^^xsd:string, "OMIM:229050"^^xsd:string, "ORDO:90045"^^xsd:string, "SNOMEDCT_US_2021_03_01:62578003"^^xsd:string, "UMLS_CUI:C0342705"^^xsd:string ; oboInOwl:hasExactSynonym "congenital defect of folate absorption"@en, "congenital folate malabsorption"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111678"^^xsd:string ; a owl:Class ; rdfs:label "hereditary folate malabsorption"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111679 obo:IAO_0000115 "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in FTCD on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:9279"^^xsd:string, "MESH:C537425"^^xsd:string, "OMIM:229100"^^xsd:string, "ORDO:51208"^^xsd:string, "SNOMEDCT_US_2021_03_01:59761008"^^xsd:string, "UMLS_CUI:C0268609"^^xsd:string ; oboInOwl:hasExactSynonym "Arakawa syndrome 1"@en, "FIGLUria"@en, "FTCD deficiency"@en, "formiminoglutamic acidemia"@en, "formiminoglutamic aciduria"@en, "formiminotransferase cyclodeaminase deficiency"@en, "formiminotransferase deficiency syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111679"^^xsd:string ; a owl:Class ; rdfs:label "glutamate formiminotransferase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050718, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111680 obo:IAO_0000115 "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E74.11"^^xsd:string, "MEDDRA:10015487"^^xsd:string, "MESH:C538068"^^xsd:string, "OMIM:229800"^^xsd:string, "ORDO:2056"^^xsd:string, "SNOMEDCT_US_2021_03_01:124300009"^^xsd:string, "UMLS_CUI:C0268160"^^xsd:string ; oboInOwl:hasExactSynonym "fructokinase deficiency"@en, "hepatic fructokinase deficiency"@en, "ketohexokinase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111680"^^xsd:string ; a owl:Class ; rdfs:label "essential fructosuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2978, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111681 obo:IAO_0000115 "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565557"^^xsd:string, "OMIM:230450"^^xsd:string, "ORDO:33574"^^xsd:string, "UMLS_CUI:C1856603"^^xsd:string ; oboInOwl:hasExactSynonym "gamma-glutamylcysteine synthetase deficiency"@en, "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111681"^^xsd:string ; a owl:Class ; rdfs:label "glutamate-cysteine ligase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111682 obo:IAO_0000115 "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in BICC1 on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder."^^xsd:string ; oboInOwl:hasDbXref "GARD:4658"^^xsd:string, "OMIM:601331"^^xsd:string ; oboInOwl:hasExactSynonym "CYSRD"@en, "renal dysplasia diffuse cystic"@en, "susceptibility to cystic renal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111682"^^xsd:string ; a owl:Class ; rdfs:label "diffuse cystic renal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2975, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111683 obo:IAO_0000115 "A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:372"^^xsd:string, "MESH:C537393"^^xsd:string, "OMIM:601321"^^xsd:string, "ORDO:638"^^xsd:string, "SNOMEDCT_US_2021_03_01:715344006"^^xsd:string, "UMLS_CUI:C2931482"^^xsd:string ; oboInOwl:hasExactSynonym "NFNS"@en, "Noonan neurofibromatosis syndrome"@en, "neurofibromatosis type 1-Noonan syndrome"@en, "neurofibromatosis with Noonan phenotype"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111683"^^xsd:string ; a owl:Class ; rdfs:label "neurofibromatosis-Noonan syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004322 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_0111684 obo:IAO_0000115 "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated."^^xsd:string ; oboInOwl:hasDbXref "ORDO:157794"^^xsd:string ; oboInOwl:hasExactSynonym "HMPS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111684"^^xsd:string ; a owl:Class ; rdfs:label "hereditary mixed polyposis syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_0111685 obo:IAO_0000115 "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601228"^^xsd:string ; oboInOwl:hasExactSynonym "CRAC1"@en, "HMPS1"@en, "chromosome 15q13-q14 duplication syndrome, 40-KB"@en, "colorectal adenoma and carcinoma 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111685"^^xsd:string ; a owl:Class ; rdfs:label "hereditary mixed polyposis syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_0111684, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0111686 obo:IAO_0000115 "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in BMPR1A on chromosome 10q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:610069"^^xsd:string ; oboInOwl:hasExactSynonym "HMPS2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111686"^^xsd:string ; a owl:Class ; rdfs:label "hereditary mixed polyposis syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111684, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111687 obo:IAO_0000115 "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9762"^^xsd:string, "MESH:C538356"^^xsd:string, "NCI:C75456"^^xsd:string, "OMIM:601224"^^xsd:string, "ORDO:52022"^^xsd:string, "SNOMEDCT_US_2021_03_01:702346005"^^xsd:string, "UMLS_CUI:C1832588"^^xsd:string ; oboInOwl:hasExactSynonym "11p11.2 deletion"@en, "PSS"@en, "proximal 11p deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111687"^^xsd:string ; a owl:Class ; rdfs:label "Potocki-Shaffer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0111688 obo:IAO_0000115 "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563390"^^xsd:string, "OMIM:601088"^^xsd:string, "UMLS_CUI:C1832812"^^xsd:string ; oboInOwl:hasExactSynonym "AYGRP"@en, "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111688"^^xsd:string ; a owl:Class ; rdfs:label "Ayme-Gripp syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111689 obo:IAO_0000115 "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS601068"^^xsd:string, "ORDO:86814"^^xsd:string, "SNOMEDCT_US_2021_03_01:717225001"^^xsd:string, "UMLS_CUI:C4273988"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME"@en, "FAME"@en, "FCMTE"@en, "benign adult familial myoclonic epilepsy"@en, "benign adult familial myoclonus epilepsy"@en, "familial cortical myoclonic tremor and epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111689"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050705, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111690 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601068"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME1"@en, "FAME1"@en, "FCMTE1"@en, "benign adult familial myoclonic epilepsy 1"@en, "familial cortical myoclonic tremor and epilepsy 1"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111690"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111691 obo:IAO_0000115 "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615400"^^xsd:string ; oboInOwl:hasExactSynonym "FAME5"@en, "FCMTE5"@en, "familial cortical myoclonic tremor and epilepsy 5"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111691"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111692 obo:IAO_0000115 "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607876"^^xsd:string ; oboInOwl:hasExactSynonym "ADCME"@en, "BAFME2"@en, "FAME2"@en, "FCMTE2"@en, "autosomal dominant cortical myoclonus and epilepsy"@en, "benign adult familial myoclonic epilepsy 2"@en, "familial cortical myoclonic tremor and epilepsy 2"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111692"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111693 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in YEATS2 on chromosome 3q27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615127"^^xsd:string ; oboInOwl:hasExactSynonym "FAME4"@en, "FCMTE4"@en, "familial cortical myoclonic tremor and epilepsy 4"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111693"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111694 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618075"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME7"@en, "FAME7"@en, "FCMTE7"@en, "benign adult familial myoclonic epilepsy 7"@en, "familial cortical myoclonic tremor and epilepsy 7"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111694"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111695 obo:IAO_0000115 "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613608"^^xsd:string ; oboInOwl:hasExactSynonym "FAME3"@en, "FCMTE3"@en, "familial cortical myoclonic tremor and epilepsy 3"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111695"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111696 obo:IAO_0000115 "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618074"^^xsd:string ; oboInOwl:hasExactSynonym "BAFME6"@en, "FAME6"@en, "FCMTE6"@en, "benign adult familial myoclonic epilepsy 6"@en, "familial cortical myoclonic tremor and epilepsy 6"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111696"^^xsd:string ; a owl:Class ; rdfs:label "familial adult myoclonic epilepsy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111689, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111697 obo:IAO_0000115 "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in MEIS2 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563414"^^xsd:string, "OMIM:600987"^^xsd:string, "UMLS_CUI:C1832950"^^xsd:string ; oboInOwl:hasExactSynonym "CPCMR"^^xsd:string, "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies"^^xsd:string, "cleft palate, cardiac defects, and mental retardation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111697"^^xsd:string ; a owl:Class ; rdfs:label "cleft palate, cardiac defects, and intellectual disabillity"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111698 obo:IAO_0000115 "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563423"^^xsd:string, "OMIM:600955"^^xsd:string, "ORDO:71528"^^xsd:string, "UMLS_CUI:C1833053"^^xsd:string ; oboInOwl:hasExactSynonym "PCI deficiency"^^xsd:string, "obesity and endocrinopathy due to impaired processing of prohormones"^^xsd:string, "obesity due to prohormone convertase I deficiency"^^xsd:string, "obesity with impaired prohormone processing"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111698"^^xsd:string ; a owl:Class ; rdfs:label "proprotein convertase 1/3 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111699 obo:IAO_0000115 "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in SCARF2 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3382"^^xsd:string, "MESH:C535909"^^xsd:string, "OMIM:600920"^^xsd:string, "ORDO:2460"^^xsd:string, "SNOMEDCT_US_2021_03_01:719845008"^^xsd:string, "UMLS_CUI:C1833136"^^xsd:string ; oboInOwl:hasExactSynonym "Marden-Walker-like syndrome"^^xsd:string, "Marden-Walker-like syndrome without psychmotor retardation"^^xsd:string, "VDEGS"^^xsd:string, "blepharophimosis, arachnodactyly, and congenital contractures"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111699"^^xsd:string ; a owl:Class ; rdfs:label "Van den Ende-Gupta syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111700 obo:IAO_0000115 "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:13294"^^xsd:string, "OMIM:600919"^^xsd:string ; oboInOwl:hasExactSynonym "ankyrin-B syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111700"^^xsd:string ; a owl:Class ; rdfs:label "ankyrin-B-related cardiac arrhythmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_114, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111701 obo:IAO_0000115 "A long QT syndrome that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."^^xsd:string ; oboInOwl:hasDbXref "GARD:10432"^^xsd:string ; oboInOwl:hasExactSynonym "LQT4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111701"^^xsd:string ; a owl:Class ; rdfs:label "long QT syndrome 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2843, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111702 obo:IAO_0000115 "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age."^^xsd:string ; oboInOwl:hasDbXref "GARD:3287"^^xsd:string, "MESH:D058247"^^xsd:string, "OMIM:600628"^^xsd:string, "ORDO:168"^^xsd:string, "SNOMEDCT_US_2021_03_01:238735005"^^xsd:string, "UMLS_CUI:C0406468"^^xsd:string ; oboInOwl:hasExactSynonym "loose anagen syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111702"^^xsd:string ; a owl:Class ; rdfs:label "loose anagen hair syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_987 . obo:DOID_0111703 obo:IAO_0000115 "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:2871"^^xsd:string, "MESH:C563467"^^xsd:string, "OMIM:600627"^^xsd:string, "ORDO:2224"^^xsd:string, "SNOMEDCT_US_2021_03_01:721838005"^^xsd:string, "UMLS_CUI:C2931837"^^xsd:string ; oboInOwl:hasExactSynonym "HYPTRP"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111703"^^xsd:string ; a owl:Class ; rdfs:label "familial hypertryptophanemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111704 obo:IAO_0000115 "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538317"^^xsd:string, "NCI:C129021"^^xsd:string, "OMIM:600430"^^xsd:string, "ORDO:1001"^^xsd:string, "SNOMEDCT_US_2021_03_01:702357000"^^xsd:string, "UMLS_CUI:C2931817"^^xsd:string ; oboInOwl:hasExactSynonym "2q37 microdeletion syndrome"^^xsd:string, "Albright hereditary osteodystrophy type 3"^^xsd:string, "Albright hereditary osteodystrophy-like syndrome"^^xsd:string, "Albright's hereditary osteodystrophy-like syndrome"^^xsd:string, "BDMR"^^xsd:string, "Brachydactyly-intellectual disability syndrome"^^xsd:string, "Del(2)(q37)"^^xsd:string, "deletion 2q37"^^xsd:string, "monosomy 2q37qter"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111704"^^xsd:string ; a owl:Class ; rdfs:label "chromosome 2q37 deletion syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0111705 obo:IAO_0000115 "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in KRAS on chromosome 12p12.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10366"^^xsd:string, "MESH:C563969"^^xsd:string, "OMIM:600268"^^xsd:string, "ORDO:3339"^^xsd:string, "SNOMEDCT_US_2021_03_01:723554006"^^xsd:string, "UMLS_CUI:C1838329"^^xsd:string ; oboInOwl:hasExactSynonym "Toriello-Lacassie-Droste syndrome"^^xsd:string, "aplasia cutis congenita-epibulbar dermoids syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111705"^^xsd:string ; a owl:Class ; rdfs:label "oculoectodermal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2121 . obo:DOID_0111706 obo:IAO_0000115 "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600251"^^xsd:string ; oboInOwl:hasExactSynonym "Tessier number 4 facial cleft"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111706"^^xsd:string ; a owl:Class ; rdfs:label "oblique facial clefting 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050567, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111707 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:1862"^^xsd:string, "OMIM:600231"^^xsd:string ; oboInOwl:hasExactSynonym "PPKB"^^xsd:string, "diffuse palmoplantar keratoderma, Bothnian type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111707"^^xsd:string ; a owl:Class ; rdfs:label "Bothnian type palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050428, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111708 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538682"^^xsd:string, "ORDO:448264"^^xsd:string, "UMLS_CUI:C2931923"^^xsd:string ; oboInOwl:hasExactSynonym "FNEPPK"^^xsd:string, "isolated focal non-epidermolytic palmoplantar keratoderma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111708"^^xsd:string ; a owl:Class ; rdfs:label "focal nonepidermolytic palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050428 . obo:DOID_0111709 obo:IAO_0000115 "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in KRT16 on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613000"^^xsd:string ; oboInOwl:hasExactSynonym "FNEPPK1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111709"^^xsd:string ; a owl:Class ; rdfs:label "focal nonepidermolytic palmoplantar keratoderma 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111708, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111710 obo:IAO_0000115 "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in KRT6C on chromosome 12q13.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615735"^^xsd:string, "ORDO:402003"^^xsd:string ; oboInOwl:hasExactSynonym "PPKNEFD"^^xsd:string, "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111710"^^xsd:string ; a owl:Class ; rdfs:label "focal or diffuse nonepidermolytic palmoplantar keratoderma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050428, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111711 obo:IAO_0000115 "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616400"^^xsd:string ; oboInOwl:hasExactSynonym "FNEPPK2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111711"^^xsd:string ; a owl:Class ; rdfs:label "focal nonepidermolytic palmoplantar keratoderma 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111708, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111712 obo:IAO_0000115 "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:608149"^^xsd:string, "ORDO:254519"^^xsd:string ; oboInOwl:hasExactSynonym "KOS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111712"^^xsd:string ; a owl:Class ; rdfs:label "Kagami-Ogata syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111713 obo:IAO_0000115 "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32."^^xsd:string ; oboInOwl:hasDbXref "NCI:C120409"^^xsd:string, "OMIM:616222"^^xsd:string, "ORDO:254516"^^xsd:string, "SNOMEDCT_US_2021_03_01:778012003"^^xsd:string, "UMLS_CUI:C4015558"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111713"^^xsd:string ; a owl:Class ; rdfs:label "Temple syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111714 obo:IAO_0000115 "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617352"^^xsd:string, "ORDO:96186"^^xsd:string, "SNOMEDCT_US_2021_03_01:715735007"^^xsd:string, "UMLS_CUI:C4275029"^^xsd:string ; oboInOwl:hasExactSynonym "MBCS"^^xsd:string, "UPD(20)mat"^^xsd:string, "maternal UPD(20)"^^xsd:string, "maternal uniparental disomy of chromosome 20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111714"^^xsd:string ; a owl:Class ; rdfs:label "Mulchandani-Bhoj-Conlin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111715 obo:IAO_0000115 "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:13316"^^xsd:string, "OMIM:615547"^^xsd:string, "ORDO:398069"^^xsd:string, "SNOMEDCT_US_2021_03_01:770680004"^^xsd:string, "UMLS_CUI:C3809877"^^xsd:string ; oboInOwl:hasExactSynonym "MAGEL2-related PWLS"^^xsd:string, "MAGEL2-related Prader-Willi-like syndrome"^^xsd:string, "PWLS"^^xsd:string, "SHFYNG"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111715"^^xsd:string ; a owl:Class ; rdfs:label "Schaaf-Yang syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111716 obo:IAO_0000115 "A physical disorder characterized by ocular dysplasia with eyelid malformation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q11.2"^^xsd:string, "ICD9CM:743.06"^^xsd:string, "NCI:C124520"^^xsd:string, "ORDO:98562"^^xsd:string, "SNOMEDCT_US_2021_03_01:62589005"^^xsd:string, "UMLS_CUI:C0311249"^^xsd:string ; oboInOwl:hasExactSynonym "cryptophthalmos"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111716"^^xsd:string ; a owl:Class ; rdfs:label "cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_0111717 obo:IAO_0000115 "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565138"^^xsd:string, "OMIM:123570"^^xsd:string, "ORDO:91396"^^xsd:string, "UMLS_CUI:C1852453"^^xsd:string ; oboInOwl:hasExactSynonym "CRYPTOP"^^xsd:string, "unilateral or bilateral isolated cryptophthalmos"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111717"^^xsd:string ; a owl:Class ; rdfs:label "isolated cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111716 . obo:DOID_0111718 obo:IAO_0000115 "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98950"^^xsd:string ; oboInOwl:hasExactSynonym "incomplete cryptophthalmos"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111718"^^xsd:string ; a owl:Class ; rdfs:label "partial cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111717 . obo:DOID_0111719 obo:IAO_0000115 "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98949"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111719"^^xsd:string ; a owl:Class ; rdfs:label "complete cryptophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111717 . obo:DOID_0111720 obo:IAO_0000115 "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98948"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111720"^^xsd:string ; a owl:Class ; rdfs:label "congenital symblepharon"^^xsd:string ; rdfs:subClassOf obo:DOID_0111717 . obo:DOID_0111721 obo:IAO_0000115 "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562880"^^xsd:string, "ORDO:100032"^^xsd:string, "SNOMEDCT_US_2021_03_01:109471001"^^xsd:string, "UMLS_CUI:C0399376"^^xsd:string ; oboInOwl:hasExactSynonym "AI3"^^xsd:string, "hypocalcified amelogenesis imperfecta"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111721"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_2187 . obo:DOID_0111722 obo:IAO_0000115 "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618386"^^xsd:string ; oboInOwl:hasExactSynonym "AI3C"^^xsd:string, "amelogenesis imperfecta type IIIC"^^xsd:string, "autosomal recessive amelogenesis imperfecta hypocalcification type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111722"^^xsd:string ; a owl:Class ; rdfs:label "amelogenesis imperfecta type 3C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111721, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111723 obo:IAO_0000115 "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q."^^xsd:string ; oboInOwl:hasDbXref "GARD:307"^^xsd:string, "MESH:D054868"^^xsd:string, "OMIM:147791"^^xsd:string, "ORDO:2308"^^xsd:string ; oboInOwl:hasExactSynonym "Jacobsen distal 11q deletion syndrome"^^xsd:string, "chromosome 11q deletion syndrome"^^xsd:string, "partial 11q monosomy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111723"^^xsd:string ; a owl:Class ; rdfs:label "Jacobsen Syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_0111724 obo:IAO_0000115 "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis."^^xsd:string ; oboInOwl:hasDbXref "GARD:2449"^^xsd:string, "MEDDRA:10063361"^^xsd:string, "OMIM:PS231050"^^xsd:string, "ORDO:2623"^^xsd:string, "SNOMEDCT_US_2021_03_01:28557005"^^xsd:string, "UMLS_CUI:C3489726"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD"^^xsd:string, "geleophysic dwarfism"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111724"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 . obo:DOID_0111725 obo:IAO_0000115 "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in ADAMTSL2 on chromosome 9q34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:231050"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111725"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111726 obo:IAO_0000115 "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614185"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111726"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111727 obo:IAO_0000115 "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in LTBP3 on chromosome 11q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617809"^^xsd:string ; oboInOwl:hasExactSynonym "GPHYSD3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111727"^^xsd:string ; a owl:Class ; rdfs:label "geleophysic dysplasia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111724, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111728 obo:IAO_0000115 "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion."^^xsd:string ; oboInOwl:hasDbXref "GARD:12684"^^xsd:string, "OMIM:PS615040"^^xsd:string, "ORDO:391384"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111728"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_0111729 obo:IAO_0000115 "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615040"^^xsd:string, "ORDO:391389"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111729"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111728, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111730 obo:IAO_0000115 "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615551"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111730"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111728, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111731 obo:IAO_0000115 "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."^^xsd:string ; oboInOwl:hasDbXref "NCI:C125390"^^xsd:string, "OMIM:615552"^^xsd:string, "ORDO:391392"^^xsd:string ; oboInOwl:hasExactSynonym "FEPS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111731"^^xsd:string ; a owl:Class ; rdfs:label "familial episodic pain syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111728, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111732 obo:IAO_0000115 "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564010"^^xsd:string, "OMIM:600002"^^xsd:string, "ORDO:79106"^^xsd:string, "SNOMEDCT_US_2021_03_01:720863002"^^xsd:string, "UMLS_CUI:C1838779"^^xsd:string ; oboInOwl:hasExactSynonym "Eiken skeletal dysplasia"^^xsd:string, "bone modeling defect of hands and feet"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111732"^^xsd:string ; a owl:Class ; rdfs:label "Eiken syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111733 obo:IAO_0000115 "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600001"^^xsd:string ; oboInOwl:hasExactSynonym "HDCA"^^xsd:string, "PACHD"^^xsd:string, "Yorifuji-Okuno syndrome"^^xsd:string, "congenital heart defects and other congenital anomalies"^^xsd:string, "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease"^^xsd:string, "pancreatic agenesis and congenital heart defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111733"^^xsd:string ; a owl:Class ; rdfs:label "pancreatic hypoplasia-diabetes-congenital heart disease syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111734 obo:IAO_0000115 "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:580000"^^xsd:string ; oboInOwl:hasExactSynonym "streptomycin ototoxicity"^^xsd:string, "streptomycin-induced deafness"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111734"^^xsd:string ; a owl:Class ; rdfs:label "aminoglycoside-induced deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0070310 . obo:DOID_0111735 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in SMPX on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300066"^^xsd:string ; oboInOwl:hasExactSynonym "DFN6"^^xsd:string, "DFNX4"^^xsd:string, "X-linked progressive deafness 6"^^xsd:string, "nonsyndromic sensorineural progressive deafness 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111735"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111736 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300030"^^xsd:string ; oboInOwl:hasExactSynonym "DFN4"^^xsd:string, "DFNX3"^^xsd:string, "congenital sensorineural X-linked deafness 4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111736"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111737 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0080783"^^xsd:string ; oboInOwl:hasDbXref "OMIM:304400"^^xsd:string, "ORDO:383"^^xsd:string ; oboInOwl:hasExactSynonym "DFN3"^^xsd:string, "DFNX2"^^xsd:string, "Nance deafness"^^xsd:string, "X-linked deafness type 2"^^xsd:string, "X-linked mixed conductive and neurosensory deafness"^^xsd:string, "X-linked mixed conductive and neurosensory hearing loss"^^xsd:string, "X-linked mixed conductive and sensorineural deafness"^^xsd:string, "X-linked mixed conductive and sensorineural hearing loss"^^xsd:string, "X-linked sensorineural deafness"^^xsd:string, "X-linked stapes gusher syndrome"^^xsd:string, "conductive deafness 3 with stapes fixation"^^xsd:string, "conductive deafness with stapes fixation"^^xsd:string, "mixed deafness with perilymphatic gusher"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111737"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111738 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301018"^^xsd:string, "ORDO:500188"^^xsd:string ; oboInOwl:hasExactSynonym "DFNX7"^^xsd:string, "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111738"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111739 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:304500"^^xsd:string ; oboInOwl:hasExactSynonym "DFN2"^^xsd:string, "DFNX1"^^xsd:string, "X-linked sensorineural congenital deafness 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111739"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111740 obo:IAO_0000115 "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in COL4A6 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300914"^^xsd:string ; oboInOwl:hasExactSynonym "DFNX6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111740"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050566 . obo:DOID_0111741 obo:IAO_0000115 "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300614"^^xsd:string, "ORDO:139583"^^xsd:string ; oboInOwl:hasExactSynonym "AUNX1"^^xsd:string, "DFNX5"^^xsd:string, "X-linked HSAN with deafness"^^xsd:string, "X-linked auditory neuropathy 1 with peripheral sensory neuropathy"^^xsd:string, "X-linked auditory neuropathy with peripheral sensory neuropathy type 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111741"^^xsd:string ; a owl:Class ; rdfs:label "X-linked deafness 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_870, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111742 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616795"^^xsd:string, "ORDO:458803"^^xsd:string ; oboInOwl:hasExactSynonym "SCA42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111742"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 42"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111743 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in PUM1 on chromosome 1p35.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617931"^^xsd:string ; oboInOwl:hasExactSynonym "SCA47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111743"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 47"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111744 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in TRPC3 on chromosome 4q27."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616410"^^xsd:string, "ORDO:458798"^^xsd:string ; oboInOwl:hasExactSynonym "SCA41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111744"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 41"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111745 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617018"^^xsd:string, "ORDO:497764"^^xsd:string ; oboInOwl:hasExactSynonym "SCA43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111745"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 43"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111746 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in STUB1 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618093"^^xsd:string ; oboInOwl:hasExactSynonym "SCA48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111746"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 48"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111747 obo:IAO_0000115 "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI."^^xsd:string ; oboInOwl:hasDbXref "GARD:10481"^^xsd:string, "OMIM:612876"^^xsd:string ; oboInOwl:hasExactSynonym "SCA9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111747"^^xsd:string ; a owl:Class ; rdfs:label "cerebellar ataxia type 9"^^xsd:string ; rdfs:subClassOf obo:DOID_1441 . obo:DOID_0111748 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500015"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DM1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111748"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143 . obo:DOID_0111749 obo:IAO_0000115 "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618683"^^xsd:string ; oboInOwl:hasExactSynonym "MC5DN6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111749"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0111143 . obo:DOID_0111750 obo:IAO_0000115 "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500010"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111750"^^xsd:string ; a owl:Class ; rdfs:label "adult-onset ataxia and polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_700, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_0111751 obo:IAO_0000115 "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500008"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111751"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial nonsyndromic sensorineural deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_10003 . obo:DOID_0111752 obo:IAO_0000115 "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene."^^xsd:string ; oboInOwl:hasDbXref "OMIM:221745"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111752"^^xsd:string ; a owl:Class ; rdfs:label "autosomal-mitochondrial sensorineural deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_10003, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0111753 obo:IAO_0000115 "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500006"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111753"^^xsd:string ; a owl:Class ; rdfs:label "infantile hypertrophic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11984 . obo:DOID_0111754 obo:IAO_0000115 "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ORDO:99718"^^xsd:string ; oboInOwl:hasExactSynonym "LHON plus disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111754"^^xsd:string ; a owl:Class ; rdfs:label "Leber plus disease"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111755 obo:IAO_0000115 "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500001"^^xsd:string ; oboInOwl:hasExactSynonym "LDYT"^^xsd:string, "Leber optic atrophy and dystonia"^^xsd:string, "Leber optic atrophy with dystonia"^^xsd:string, "Marsden syndrome"^^xsd:string, "familial dystonia with visual failure and striatal lucencies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111755"^^xsd:string ; a owl:Class ; rdfs:label "Leber hereditary optic neuropathy and dystonia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111754 . obo:DOID_0111756 obo:IAO_0000115 "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system."^^xsd:string ; oboInOwl:hasDbXref "OMIM:165200"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111756"^^xsd:string ; a owl:Class ; rdfs:label "Leber hereditary optic neuropathy with demyelinating disease of CNS"^^xsd:string ; rdfs:subClassOf obo:DOID_0111754 . obo:DOID_0111757 obo:IAO_0000115 "A nonsyndromic deafness characterized by a Y-lnked inheritance mode."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS400043"^^xsd:string ; oboInOwl:hasExactSynonym "DFNY"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111757"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050563, obo:DOID_0050738, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0111758 obo:IAO_0000115 "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in TBL1Y on chromosome Yp11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400047"^^xsd:string ; oboInOwl:hasExactSynonym "DFNY2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111758"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked deafness 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111757 . obo:DOID_0111759 obo:IAO_0000115 "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400043"^^xsd:string ; oboInOwl:hasExactSynonym "DFNY1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111759"^^xsd:string ; a owl:Class ; rdfs:label "Y-linked deafness 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0111757 . obo:DOID_0111760 obo:IAO_0000115 "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous."^^xsd:string ; oboInOwl:hasDbXref "GARD:399"^^xsd:string, "MESH:D058531"^^xsd:string, "ORDO:393"^^xsd:string ; oboInOwl:hasExactSynonym "46,XX testicular DSD"^^xsd:string, "46,XX testicular disorder of sex development"^^xsd:string, "De la Chapelle syndrome"^^xsd:string, "SRXX"^^xsd:string, "XX, male syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111760"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal"^^xsd:string ; rdfs:subClassOf obo:DOID_14447 . obo:DOID_0111761 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400045"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111761"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111762 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300833"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111762"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111763 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:278850"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX2"^^xsd:string, "chromosome 17q24 dupication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111763"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111764 obo:IAO_0000115 "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617480"^^xsd:string ; oboInOwl:hasExactSynonym "SRXX4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111764"^^xsd:string ; a owl:Class ; rdfs:label "46,XX sex reversal 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111760, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111765 obo:IAO_0000115 "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536197"^^xsd:string, "NCI:C141423"^^xsd:string, "OMIM:314400"^^xsd:string, "ORDO:555877"^^xsd:string, "SNOMEDCT_US_2021_03_01:67202007"^^xsd:string, "UMLS_CUI:C0268341"^^xsd:string ; oboInOwl:hasExactSynonym "CVD1"^^xsd:string, "Dystrophie valvulaire associee a FLNA"^^xsd:string, "EDS 5"^^xsd:string, "Ehlers-Danlos syndrome, type 5"^^xsd:string, "FLNA-related X-linked myxomatous valvular dysplasia"^^xsd:string, "FLNA-related valvular dystrophy"^^xsd:string, "Filamin A-related X-linked myxomatous valvular dysplasia"^^xsd:string, "XMVD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111765"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cardiac valvular dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_4079, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111766 obo:IAO_0000115 "A VACTERL association that has_material_basis_in mutation in ZIC3 on chromosome Xq26.3 or FANCB on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:8498"^^xsd:string, "OMIM:314390"^^xsd:string ; oboInOwl:hasExactSynonym "VACTERL association, X-linked with or without hydrocephalus"^^xsd:string, "VACTERLX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111766"^^xsd:string ; a owl:Class ; rdfs:label "X-linked VACTERL association"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14679, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111767 obo:IAO_0000115 "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of GATA1 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564050"^^xsd:string, "NCI:C134941"^^xsd:string, "OMIM:314050"^^xsd:string, "ORDO:231393"^^xsd:string, "UMLS_CUI:C1839161"^^xsd:string ; oboInOwl:hasExactSynonym "GATA1-related X-linked cytopenia"^^xsd:string, "XLTT"^^xsd:string, "beta-thalassemia-X-linked thrombocytopenia syndrome"^^xsd:string, "thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111767"^^xsd:string ; a owl:Class ; rdfs:label "X-linked thrombocytopenia with beta-thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_74, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111768 obo:IAO_0000115 "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:9913"^^xsd:string, "MESH:C537241"^^xsd:string, "OMIM:312060"^^xsd:string, "ORDO:2966"^^xsd:string, "SNOMEDCT_US_2021_03_01:81166004"^^xsd:string, "UMLS_CUI:C0398762"^^xsd:string, "UMLS_CUI:C1839454"^^xsd:string ; oboInOwl:hasExactSynonym "CFPD"^^xsd:string, "complement factor properdin deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111768"^^xsd:string ; a owl:Class ; rdfs:label "X-linked properdin deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_626, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111769 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in MAP3K1 on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613762"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, MAP3K1-related"^^xsd:string, "46,XY sex reversal, partial or complete, MAP3K1-related"^^xsd:string, "SRXY6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111769"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111770 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in ZFPM2 on chromosome 8q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616067"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY sex reversal, ZFPM2-related"^^xsd:string, "SRXY9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111770"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111771 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p."^^xsd:string ; oboInOwl:hasDbXref "OMIM:154230"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion"^^xsd:string, "SRXY4"^^xsd:string, "chromosome 9p24.3 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111771"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_14448, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0111772 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612965"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure"^^xsd:string, "46,XY sex reversal, partial or complete, NR5A1-related"^^xsd:string, "SRXY3"^^xsd:string, "disorder of sex development, 46,XY, NR5A1-related"^^xsd:string, "sex reversal, XY, with or without adrenal failure"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111772"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111773 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614279"^^xsd:string, "ORDO:443087"^^xsd:string ; oboInOwl:hasExactSynonym "SRXY8"^^xsd:string, "TDD"^^xsd:string, "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111773"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111774 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233420"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, partial or complete, DHH-related"^^xsd:string, "46,XY sex reversal, partial or complete, DHH-related"^^xsd:string, "GDXYM"^^xsd:string, "SRXY7"^^xsd:string, "gonadal dysgenesis, XY, male limited"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111774"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111775 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of SOX9 on chromosome 17q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616425"^^xsd:string ; oboInOwl:hasExactSynonym "SRXY10"^^xsd:string, "chromosome 17q24 deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111775"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_14448, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111776 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in CBX2 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613080"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, complete, CBX2-related"^^xsd:string, "46,XY sex reversal, CBX2-related"^^xsd:string, "SRXY5"^^xsd:string, "disorder of sex development, 46,XY, CBX2-related"^^xsd:string, "sex reversal, XY, CBX2-related"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111776"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111777 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of NR0B1 on chromosome Xp21.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9159"^^xsd:string, "OMIM:300018"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY sex reversal, DAX1-related"^^xsd:string, "46XY sex reversal 2, dosage-sensitive"^^xsd:string, "DSS"^^xsd:string, "SRXY2"^^xsd:string, "dosage-sensitive sex reversal"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111777"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111778 obo:IAO_0000115 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:400044"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, complete, SRY-related"^^xsd:string, "46,XY sex reversal, SRY-related"^^xsd:string, "SRXY1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111778"^^xsd:string ; a owl:Class ; rdfs:label "46,XY sex reversal 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050738, obo:DOID_14448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000941 ] . obo:DOID_0111779 obo:IAO_0000115 "A panhypopituitarism that has_material_basis_in duplications in SOX3 on chromosome Xq27.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:6737"^^xsd:string, "OMIM:312000"^^xsd:string ; oboInOwl:hasExactSynonym "PHPX"^^xsd:string, "pituitary dwarfism IV"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111779"^^xsd:string ; a owl:Class ; rdfs:label "X-linked panhypopituitarism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_9410, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111780 obo:IAO_0000115 "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in RBM10 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10089"^^xsd:string, "MESH:C536942"^^xsd:string, "OMIM:311900"^^xsd:string, "ORDO:2886"^^xsd:string, "SNOMEDCT_US_2021_03_01:725911008"^^xsd:string, "UMLS_CUI:C1839463"^^xsd:string ; oboInOwl:hasExactSynonym "Pierre Robin sequence-congenital heart defect-talipes syndrome"^^xsd:string, "Pierre Robin syndrome-congenital heart defect-talipes syndrome"^^xsd:string, "TARPS"^^xsd:string, "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111780"^^xsd:string ; a owl:Class ; rdfs:label "TARP syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111781 obo:IAO_0000115 "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in RAB39B on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:311510"^^xsd:string ; oboInOwl:hasExactSynonym "Laxova-Opitz syndrome"^^xsd:string, "early-onset parkinsonism-intellectual disability syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111781"^^xsd:string ; a owl:Class ; rdfs:label "Waisman syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111782 obo:IAO_0000115 "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "ORDO:364541"^^xsd:string ; oboInOwl:hasExactSynonym "OPD spectrum disorder"^^xsd:string, "OPSD"^^xsd:string, "fronto-otopalatodigital osteodysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111782"^^xsd:string ; a owl:Class ; rdfs:label "otopalatodigital syndrome spectrum disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006 . obo:DOID_0111783 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:5121"^^xsd:string, "MESH:C536065"^^xsd:string, "NCI:C118845"^^xsd:string, "OMIM:311300"^^xsd:string, "ORDO:90650"^^xsd:string, "SNOMEDCT_US_2021_03_01:54036001"^^xsd:string, "UMLS_CUI:C0265251"^^xsd:string ; oboInOwl:hasExactSynonym "OPD I syndrome"^^xsd:string, "OPD syndrome 1"^^xsd:string, "OPD1"^^xsd:string, "Taybi syndrome"^^xsd:string, "oto-palato-digital syndrome type 1"^^xsd:string, "otopalatodigital syndrome type I"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111783"^^xsd:string ; a owl:Class ; rdfs:label "otopalatodigital syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111784 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:5802"^^xsd:string, "MESH:C538089"^^xsd:string, "OMIM:304120"^^xsd:string, "ORDO:90652"^^xsd:string, "SNOMEDCT_US_2021_03_01:42432003"^^xsd:string, "UMLS_CUI:C1844696"^^xsd:string ; oboInOwl:hasExactSynonym "Andre syndrome"^^xsd:string, "OPD II syndrome"^^xsd:string, "OPD syndrome 2"^^xsd:string, "OPD2"^^xsd:string, "faciopalatoosseous syndrome"^^xsd:string, "oto-palato-digital syndrome type 2"^^xsd:string, "otopalatodigital syndrome type II"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111784"^^xsd:string ; a owl:Class ; rdfs:label "otopalatodigital syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111785 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:826"^^xsd:string, "MESH:C538064"^^xsd:string, "OMIM:PS305620"^^xsd:string, "ORDO:1826"^^xsd:string, "SNOMEDCT_US_2021_03_01:62803002"^^xsd:string, "UMLS_CUI:C0265293"^^xsd:string ; oboInOwl:hasExactSynonym "FMD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111785"^^xsd:string ; a owl:Class ; rdfs:label "frontometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0111782 . obo:DOID_0111786 obo:IAO_0000115 "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:305620"^^xsd:string ; oboInOwl:hasExactSynonym "FMD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111786"^^xsd:string ; a owl:Class ; rdfs:label "frontometaphyseal dysplasia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111785, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111787 obo:IAO_0000115 "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617137"^^xsd:string ; oboInOwl:hasExactSynonym "FMD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111787"^^xsd:string ; a owl:Class ; rdfs:label "frontometaphyseal dysplasia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111785, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111788 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:7011"^^xsd:string, "MEDDRA:10060908"^^xsd:string, "MESH:D010009"^^xsd:string, "OMIM:309350"^^xsd:string, "ORDO:1826"^^xsd:string, "SNOMEDCT_US_2021_03_01:13449007"^^xsd:string, "UMLS_CUI:C0025237"^^xsd:string ; oboInOwl:hasExactSynonym "MNS"^^xsd:string, "Melnick-Needles osteodysplasty"^^xsd:string, "osteodysplasty of Melnick and Needles"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111788"^^xsd:string ; a owl:Class ; rdfs:label "Melnick-Needles syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111789 obo:IAO_0000115 "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5138"^^xsd:string, "MESH:C537274"^^xsd:string, "OMIM:249420"^^xsd:string, "ORDO:137834"^^xsd:string, "SNOMEDCT_US_2021_03_01:720958002"^^xsd:string, "UMLS_CUI:C1855305"^^xsd:string ; oboInOwl:hasExactSynonym "Borrone dermatocardioskeletal syndrome"^^xsd:string, "FTHS"^^xsd:string, "Ter Haar syndrome"^^xsd:string, "autosomal recessive Melnick-Needles syndrome"^^xsd:string, "megalocornea, multiple skeletal anomalies, and developmental delay"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111789"^^xsd:string ; a owl:Class ; rdfs:label "Frank-Ter Haar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111782, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111790 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in mutation in FRMD7 on chromosome Xq26.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:2969"^^xsd:string, "OMIM:310700"^^xsd:string ; oboInOwl:hasExactSynonym "NYS1"^^xsd:string, "X-linked infantile nystagmus 1"^^xsd:string, "congenital motor nystagmus 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111790"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111791 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614826"^^xsd:string ; oboInOwl:hasExactSynonym "NYS7"^^xsd:string, "autosomal dominant congenital nystagmus 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111791"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111792 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:9599"^^xsd:string, "OMIM:164100"^^xsd:string ; oboInOwl:hasExactSynonym "NYS2"^^xsd:string, "autosomal dominant congenital nystagmus 2"^^xsd:string, "congenital motor nystagmus 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111792"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111793 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:9600"^^xsd:string, "OMIM:608345"^^xsd:string ; oboInOwl:hasExactSynonym "NYS3"^^xsd:string, "autosomal dominant congenital nystagmus 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111793"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111794 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33."^^xsd:string ; oboInOwl:hasDbXref "GARD:9603"^^xsd:string, "OMIM:193003"^^xsd:string ; oboInOwl:hasExactSynonym "NYS4"^^xsd:string, "autosomal dominant congenital nystagmus 4"^^xsd:string, "vestibulocerebellar disorder with predominant ocular signs"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111794"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111795 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in GPR143 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300814"^^xsd:string ; oboInOwl:hasExactSynonym "NYS6"^^xsd:string, "X-linked congenital nystagmus 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111795"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 6"^^xsd:string ; rdfs:subClassOf obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111796 obo:IAO_0000115 "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300589"^^xsd:string ; oboInOwl:hasExactSynonym "NYS5"^^xsd:string, "X-linked congenital nystagmus 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111796"^^xsd:string ; a owl:Class ; rdfs:label "congenital nystagmus 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111797 obo:IAO_0000115 "A congenital nystagmus characterized by autosomal recessive inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9609"^^xsd:string, "OMIM:257400"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal recessive congenital motor nystagmus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111797"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9649, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111798 obo:IAO_0000115 "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:310468"^^xsd:string ; oboInOwl:hasExactSynonym "NPHL1"^^xsd:string, "X-linked nephrolithiasis with renal failure"^^xsd:string, "X-linked recessive urolithiasis type 1"^^xsd:string, "XRN"^^xsd:string, "nephrolithiasis 1"^^xsd:string, "nephrolithiasis X-linked recessive type 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111798"^^xsd:string ; a owl:Class ; rdfs:label "X-linked nephrolithiasis type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111799 obo:IAO_0000115 "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0111810"^^xsd:string ; oboInOwl:hasBroadSynonym "syndromic microphthalmia 4"^^xsd:string ; oboInOwl:hasDbXref "GARD:5066"^^xsd:string, "GARD:87"^^xsd:string, "MESH:C564457"^^xsd:string, "OMIM:309800"^^xsd:string, "ORDO:568"^^xsd:string, "ORDO:85275"^^xsd:string, "UMLS_CUI:C1844948"^^xsd:string ; oboInOwl:hasExactSynonym "Lenz dysplasia"^^xsd:string, "Lenz microphthalmia"^^xsd:string, "Lenz type microphthalmia"^^xsd:string, "MCOPS1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111799"^^xsd:string ; a owl:Class ; rdfs:comment "In OMIM, A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by omim, merged into type 1[LS]"^^xsd:string ; rdfs:label "syndromic microphthalmia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] ; skos:exactMatch "MESH:C537464"^^xsd:string, "MESH:C564457"^^xsd:string . obo:DOID_0111800 obo:IAO_0000115 "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:13235"^^xsd:string, "OMIM:615524"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS12"^^xsd:string, "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111800"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111801 obo:IAO_0000115 "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:1443"^^xsd:string, "MESH:C565948"^^xsd:string, "OMIM:206900"^^xsd:string, "ORDO:77298"^^xsd:string, "SNOMEDCT_US_2021_03_01:698851003"^^xsd:string, "UMLS_CUI:C1859773"^^xsd:string ; oboInOwl:hasExactSynonym "AEG syndrome"^^xsd:string, "MCOPS3"^^xsd:string, "SOX2 anophthalmia syndrome"^^xsd:string, "anophthalmia clinical with associated anomalies"^^xsd:string, "anophthalmia esophageal genital syndrome"^^xsd:string, "anophthalmia microphthalmia esophageal atresia"^^xsd:string, "anophthalmia/microphthalmia-esophageal atresia syndrome"^^xsd:string, "microphthalmia and esophageal atresia syndrome"^^xsd:string, "syndromic microphthalmia type 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111801"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111802 obo:IAO_0000115 "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615877"^^xsd:string, "ORDO:424099"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS14"^^xsd:string, "MCSKS"^^xsd:string, "colobomatous microphthalmia-rhizomelic dysplasia syndrome"^^xsd:string, "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia"^^xsd:string, "microphthalmia/coloboma and skeletal dysplasia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111802"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111803 obo:IAO_0000115 "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "GARD:3693"^^xsd:string, "MESH:C537686"^^xsd:string, "OMIM:601349"^^xsd:string, "ORDO:3434"^^xsd:string, "UMLS_CUI:C1832440"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS8"^^xsd:string, "MMEP syndrome"^^xsd:string, "Viljoen-Smart syndrome"^^xsd:string, "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome"^^xsd:string, "syndromic microphthalmia type 8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111803"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111804 obo:IAO_0000115 "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614402"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111804"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0080636 . obo:DOID_0111805 obo:IAO_0000115 "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:3645"^^xsd:string, "MESH:C566440"^^xsd:string, "OMIM:607932"^^xsd:string, "ORDO:139471"^^xsd:string, "UMLS_CUI:C1864689"^^xsd:string ; oboInOwl:hasExactSynonym "Bakrania-Ragge syndrome"^^xsd:string, "MCOPS6"^^xsd:string, "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia"^^xsd:string, "microphthalmia and pituitary anomalies"^^xsd:string, "microphthalmia with brain and digit anomalies"^^xsd:string, "syndromic microphthalmia type 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111805"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111806 obo:IAO_0000115 "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3692"^^xsd:string, "MESH:C566441"^^xsd:string, "OMIM:610125"^^xsd:string, "ORDO:178364"^^xsd:string, "UMLS_CUI:C1864690"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS5"^^xsd:string, "syndromic microphthalmia type 5"^^xsd:string, "syndromic microphthalmia/anophthalmia due to OTX2 mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111806"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111807 obo:IAO_0000115 "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050819"^^xsd:string ; oboInOwl:hasDbXref "MESH:C537768"^^xsd:string, "OMIM:601186"^^xsd:string, "ORDO:2470"^^xsd:string, "SNOMEDCT_US_2021_03_01:722458000"^^xsd:string, "UMLS_CUI:C1832661"^^xsd:string ; oboInOwl:hasExactSynonym "Matthew-Wood syndrome"^^xsd:string, "anophthalmia-pulmonary hypoplasia syndrome"^^xsd:string, "anophthalmia/microphthalmia and pulmonary hypoplasia"^^xsd:string, "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations"^^xsd:string, "pulmonary agenesis microphthalmi and diaphragmatic defect"^^xsd:string, "spear syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111807"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111808 obo:IAO_0000115 "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C537466"^^xsd:string, "OMIM:309801"^^xsd:string, "SNOMEDCT_US_2020_03_01:721879006"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS7"^^xsd:string, "MIDAS syndrome"^^xsd:string, "MLS syndrome"^^xsd:string, "microphthalmia-dermal aplasia-sclerocornea syndrome"^^xsd:string, "syndromic microphthalmia 7"^^xsd:string, "syndromic microphthalmia type 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111808"^^xsd:string ; a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080015, obo:DOID_0111875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111809 obo:IAO_0000115 "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:4628"^^xsd:string, "MESH:C537465"^^xsd:string, "OMIM:300166"^^xsd:string, "ORDO:2712"^^xsd:string, "SNOMEDCT_US_2021_03_01:699300009"^^xsd:string, "UMLS_CUI:C1846265"^^xsd:string ; oboInOwl:hasExactSynonym "ANOP2"^^xsd:string, "MAA2"^^xsd:string, "MCOPS2"^^xsd:string, "OFCD syndrome"^^xsd:string, "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome"^^xsd:string, "microphthalmia cataracts radiculomegaly and septal heart defects"^^xsd:string, "oculofaciocardiodental syndrome"^^xsd:string, "syndromic microphthalmia type 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111809"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111810 obo:IAO_0000115 "A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28."^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111810"^^xsd:string ; a owl:Class ; rdfs:label "obsolete syndromic microphthalmia 4"^^xsd:string ; owl:deprecated true . obo:DOID_0111811 obo:IAO_0000115 "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300915"^^xsd:string, "ORDO:431140"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS13"^^xsd:string, "Maine microphthalmos"^^xsd:string, "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"^^xsd:string, "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111811"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0080636, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111812 obo:IAO_0000115 "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:9292"^^xsd:string, "OMIM:611222"^^xsd:string, "ORDO:77299"^^xsd:string ; oboInOwl:hasExactSynonym "MCOPS10"^^xsd:string, "MOBA"^^xsd:string, "microphthalmia-brain atrophy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111812"^^xsd:string ; a owl:Class ; rdfs:label "syndromic microphthalmia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0080636 . obo:DOID_0111813 obo:IAO_0000115 "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:3559"^^xsd:string, "MESH:C564100"^^xsd:string, "OMIM:309630"^^xsd:string, "ORDO:2498"^^xsd:string, "SNOMEDCT_US_2021_03_01:715442006"^^xsd:string, "UMLS_CUI:C1839728"^^xsd:string ; oboInOwl:hasExactSynonym "fusion of metacarpals 4 and 5"^^xsd:string, "metacarpal 4-5 fusion"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111813"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111814 obo:IAO_0000115 "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309541"^^xsd:string, "ORDO:369962"^^xsd:string ; oboInOwl:hasExactSynonym "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX"^^xsd:string, "mental retardation, X-linked 3"^^xsd:string, "methylmalonic aciduria with homocystinuria, type cblX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111814"^^xsd:string ; a owl:Class ; rdfs:label "methylmalonic acidemia and homocysteinemia cblX type"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_14749, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111815 obo:IAO_0000115 "A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:308990"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111815"^^xsd:string ; a owl:Class ; rdfs:label "low molecular weight proteinuria with hypercalciuric nephrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050699 . obo:DOID_0111816 obo:IAO_0000115 "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36."^^xsd:string ; oboInOwl:hasDbXref "GARD:5081"^^xsd:string, "OMIM:185900"^^xsd:string, "ORDO:93402"^^xsd:string ; oboInOwl:hasExactSynonym "SDTY1"^^xsd:string, "chromosome 2q35 duplication syndrome"^^xsd:string, "syndactyly, type 1, with or without craniosynostosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111816"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_11193, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ] . obo:DOID_0111817 obo:IAO_0000115 "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in GJA1 on chromosome 6q22.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:5088"^^xsd:string, "MESH:C538154"^^xsd:string, "OMIM:186100"^^xsd:string, "ORDO:93404"^^xsd:string, "SNOMEDCT_US_2021_03_01:715725001"^^xsd:string, "UMLS_CUI:C1861366"^^xsd:string ; oboInOwl:hasExactSynonym "SDTY3"^^xsd:string, "ringand little finger syndactyly"^^xsd:string, "syndactyly of fingers 4 and 5"^^xsd:string, "syndactyly, type III"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111817"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111818 obo:IAO_0000115 "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of LMBR1 on chromosome 7q36.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4434"^^xsd:string, "MESH:C566092"^^xsd:string, "OMIM:186200"^^xsd:string, "ORDO:93405"^^xsd:string, "SNOMEDCT_US_2021_03_01:719158007"^^xsd:string, "UMLS_CUI:C1861355"^^xsd:string ; oboInOwl:hasExactSynonym "Haas type syndactyly"^^xsd:string, "SDTY4"^^xsd:string, "polysyndactyly, Haas type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111818"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111819 obo:IAO_0000115 "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in HOXD13 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5089"^^xsd:string, "MESH:C538155"^^xsd:string, "OMIM:186300"^^xsd:string, "ORDO:93406"^^xsd:string, "SNOMEDCT_US_2021_03_01:719159004"^^xsd:string, "UMLS_CUI:C1861348"^^xsd:string ; oboInOwl:hasExactSynonym "SDTY5"^^xsd:string, "syndactyly with associated metacarpal and metatarsal fusion"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111819"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly type 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111820 obo:IAO_0000115 "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609815"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111820"^^xsd:string ; a owl:Class ; rdfs:label "zygodactyly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_11193, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_0111821 obo:IAO_0000115 "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "GARD:2952"^^xsd:string, "MESH:C536085"^^xsd:string, "OMIM:308205"^^xsd:string, "ORDO:2273"^^xsd:string, "UMLS_CUI:C1839988"^^xsd:string ; oboInOwl:hasExactSynonym "IFAP syndrome 1"^^xsd:string, "IFAP syndrome 1 with or without BRESHECK syndrome"^^xsd:string, "ichthyosis follicularis-atrichia-photophobia syndrome 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111821"^^xsd:string ; a owl:Class ; rdfs:label "ichthyosis follicularis-alopecia-photophobia syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011368 ] . obo:DOID_0111822 obo:IAO_0000115 "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:6039"^^xsd:string, "MESH:C562515"^^xsd:string, "OMIM:308050"^^xsd:string, "ORDO:139"^^xsd:string, "SNOMEDCT_US_2021_03_01:17608003"^^xsd:string, "UMLS_CUI:C0265267"^^xsd:string ; oboInOwl:hasExactSynonym "CHILD nevus"^^xsd:string, "congenital hemidysplasia with ichthyosiform nevus and limbs defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111822"^^xsd:string ; a owl:Class ; rdfs:label "CHILD syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111823 obo:IAO_0000115 "A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency."^^xsd:string ; oboInOwl:hasDbXref "OMIM:134500"^^xsd:string ; oboInOwl:hasExactSynonym "autosomal Factor VIII deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111823"^^xsd:string ; a owl:Class ; rdfs:label "autosomal hemophilia A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111824 obo:IAO_0000115 "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature."^^xsd:string ; oboInOwl:hasDbXref "ORDO:915"^^xsd:string ; oboInOwl:hasExactSynonym "Aarskog-Scott syndrome"^^xsd:string, "faciodigitogenital syndrome"^^xsd:string, "faciogenital dysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111824"^^xsd:string ; a owl:Class ; rdfs:label "Aarskog syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111825 obo:IAO_0000115 "An Aarskog syndrome characterized by autosomal dominant inheritance."^^xsd:string ; oboInOwl:hasDbXref "OMIM:100050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111825"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant Aarskog syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111824, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111826 obo:IAO_0000115 "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:360"^^xsd:string, "MESH:C535559"^^xsd:string, "OMIM:302905"^^xsd:string, "ORDO:921"^^xsd:string, "SNOMEDCT_US_2021_03_01:718574003"^^xsd:string, "UMLS_CUI:C1844862"^^xsd:string ; oboInOwl:hasExactSynonym "CHARGE-like syndrome, X-linked"^^xsd:string, "cleft palate-coloboma-deafness syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111826"^^xsd:string ; a owl:Class ; rdfs:label "Abruzzo-Erickson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111827 obo:IAO_0000115 "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in UBA1 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8521"^^xsd:string, "MESH:C535380"^^xsd:string, "OMIM:301830"^^xsd:string, "ORDO:1145"^^xsd:string, "SNOMEDCT_US_2021_03_01:719836007"^^xsd:string, "UMLS_CUI:C1844934"^^xsd:string ; oboInOwl:hasExactSynonym "SMAX2"^^xsd:string, "X-linked distal arthrogryposis multiplex congenita"^^xsd:string, "X-linked spinal muscular atrophy type 2"^^xsd:string, "infantile-onset X-linked spinal muscular atrophy"^^xsd:string, "spinal muscular atrophy with arthrogryposis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111827"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinal muscular atrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12377, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111828 obo:IAO_0000115 "A hereditary ataxia characterized by X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "ORDO:247765"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111828"^^xsd:string ; a owl:Class ; rdfs:label "X-linked cerebellar ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050953 . obo:DOID_0111829 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in ATP2B3 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:302500"^^xsd:string, "ORDO:1175"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX1"^^xsd:string, "X-linked progressive cerebellar ataxia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111829"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111830 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9978"^^xsd:string, "OMIM:302600"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX2"^^xsd:string, "cerebellar ataxia with extrapyramidal involvement early-onset"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111830"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0111828 . obo:DOID_0111831 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9981"^^xsd:string, "MESH:C537315"^^xsd:string, "OMIM:301790"^^xsd:string, "ORDO:85297"^^xsd:string, "SNOMEDCT_US_2020_03_01:719817002"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX3"^^xsd:string, "X-linked ataxia-deafness syndrome"^^xsd:string, "X-linked spinocerebellar ataxia type 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111831"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0111828 . obo:DOID_0111832 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance."^^xsd:string ; oboInOwl:hasDbXref "GARD:9980"^^xsd:string, "MESH:C537316"^^xsd:string, "OMIM:301840"^^xsd:string, "ORDO:85292"^^xsd:string, "SNOMEDCT_US_2020_03_01:719818007"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX4"^^xsd:string, "X-linked ataxia-dementia syndrome"^^xsd:string, "X-linked spinocerebellar ataxia type 4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111832"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0111828 . obo:DOID_0111833 obo:IAO_0000115 "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300703"^^xsd:string, "ORDO:314978"^^xsd:string, "SNOMEDCT_US_2018_03_01:766818009"^^xsd:string ; oboInOwl:hasExactSynonym "SCAX5"^^xsd:string, "X-linked non progressive cerebellar ataxia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111833"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spinocerebellar ataxia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111828, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111834 obo:IAO_0000115 "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in POLA1 on chromosome Xp22.1-p21.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564461"^^xsd:string, "OMIM:301220"^^xsd:string, "ORDO:85453"^^xsd:string, "UMLS_CUI:C1845050"^^xsd:string ; oboInOwl:hasExactSynonym "PDR"^^xsd:string, "Partington disease"^^xsd:string, "X-linked reticulate pigmentary disorder with systemic manifestations"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111834"^^xsd:string ; a owl:Class ; rdfs:label "X-linked reticulate pigmentary disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_10123, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111835 obo:IAO_0000115 "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in IRS4 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301035"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111835"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111836 obo:IAO_0000115 "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in TRHR on chromosome 8q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618573"^^xsd:string, "ORDO:99832"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG7"^^xsd:string, "TRH resistance syndrome"^^xsd:string, "central hypothyroidism due to TRH receptor deficiency"^^xsd:string, "resistance to thyrotropin-releasing hormone syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111836"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111837 obo:IAO_0000115 "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in TBL1X on chromosome Xp22.3-p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301033"^^xsd:string ; oboInOwl:hasExactSynonym "CHNG8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111837"^^xsd:string ; a owl:Class ; rdfs:label "congenital nongoitrous hypothyroidism 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111838 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in MSL3 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301032"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS36"^^xsd:string, "X-linked syndromic mental retardation 36"^^xsd:string, "X-linked syndromic mental retardation Basilicata-Akhtar type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111838"^^xsd:string ; a owl:Class ; rdfs:label "Basilicata-Akhtar syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0111839 obo:IAO_0000115 "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in MAGT1 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301031"^^xsd:string ; oboInOwl:hasExactSynonym "congenital disorder of glycosylation type Icc"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111839"^^xsd:string ; a owl:Class ; rdfs:label "congenital disorder of glycosylation Icc"^^xsd:string ; rdfs:subClassOf obo:DOID_0050570, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111840 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in POLA1 on chromosome Xp22.1-p21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301030"^^xsd:string, "ORDO:163976"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSVEOD"^^xsd:string, "VEODS"^^xsd:string, "X-linked intellectual disability, Van Esch type"^^xsd:string, "X-linked syndromic mental retardation Van Esch-O'Driscoll type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111840"^^xsd:string ; a owl:Class ; rdfs:label "Van Esch-O'Driscoll syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111841 obo:IAO_0000115 "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in BCORL1 on chromosome Xq26.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301029"^^xsd:string ; oboInOwl:hasExactSynonym "SHUVER"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111841"^^xsd:string ; a owl:Class ; rdfs:label "Shukla-Vernon syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111842 obo:IAO_0000115 "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:267"^^xsd:string, "MESH:C538337"^^xsd:string, "OMIM:301026"^^xsd:string, "ORDO:2662"^^xsd:string, "SNOMEDCT_US_2021_03_01:763774001"^^xsd:string, "UMLS_CUI:C1850627"^^xsd:string ; oboInOwl:hasExactSynonym "KPTS"^^xsd:string, "nasodigitoacoustic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111842"^^xsd:string ; a owl:Class ; rdfs:label "Keipert syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111843 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in HS6ST2 on chromosome Xq26.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301025"^^xsd:string ; oboInOwl:hasExactSynonym "MRXSPM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111843"^^xsd:string ; a owl:Class ; rdfs:label "Paganini-Miozzo syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111844 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in SLC9A7 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301024"^^xsd:string ; oboInOwl:hasExactSynonym "MRX108"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111844"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual developmental disorder 108"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111845 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301022"^^xsd:string ; oboInOwl:hasExactSynonym "MKMS"^^xsd:string, "NEDXCF"^^xsd:string, "X-linked neurodevelopmental disorder with craniofacial abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111845"^^xsd:string ; a owl:Class ; rdfs:label "Mullegama-Klein-Martinez syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0111846 obo:IAO_0000115 "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in ATP11C on chromosome Xq27.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301015"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111846"^^xsd:string ; a owl:Class ; rdfs:label "X-linked congenital hemolytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_589, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111847 obo:IAO_0000115 "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301014"^^xsd:string ; oboInOwl:hasExactSynonym "OI19"^^xsd:string, "osteogenesis imperfecta type XIX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111847"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111848 obo:IAO_0000115 "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617952"^^xsd:string ; oboInOwl:hasExactSynonym "OI18"^^xsd:string, "osteogenesis imperfecta, type XVIII"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111848"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111849 obo:IAO_0000115 "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618644"^^xsd:string ; oboInOwl:hasExactSynonym "OI20"^^xsd:string, "osteogenesis imperfecta type XX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111849"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111850 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in PIH1D3 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300991"^^xsd:string ; oboInOwl:hasExactSynonym "CILD36"^^xsd:string, "X-linked primary ciliary dyskinesia 36"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111850"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 36"^^xsd:string ; rdfs:subClassOf obo:DOID_9562 . obo:DOID_0111851 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in NEK10 on chromosome 3p24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618781"^^xsd:string ; oboInOwl:hasExactSynonym "CILD44"^^xsd:string, "primary ciliary dyskinesia 44 without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111851"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111852 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618063"^^xsd:string ; oboInOwl:hasExactSynonym "CILD38"^^xsd:string, "primary ciliary dyskinesia 38 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111852"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111853 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618300"^^xsd:string ; oboInOwl:hasExactSynonym "CILD40"^^xsd:string, "primary ciliary dyskinesia 40 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111853"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111854 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in LRRC56 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618254"^^xsd:string ; oboInOwl:hasExactSynonym "CILD39"^^xsd:string, "primary ciliary dyskinesia 39 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111854"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111855 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in MCIDAS on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618695"^^xsd:string ; oboInOwl:hasExactSynonym "CILD42"^^xsd:string, "primary ciliary dyskinesia 42 without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111855"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111856 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618699"^^xsd:string ; oboInOwl:hasExactSynonym "CILD43"^^xsd:string, "primary ciliary dyskinesia 43 with or without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111856"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111857 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618801"^^xsd:string ; oboInOwl:hasExactSynonym "CILD45"^^xsd:string, "primary ciliary dyskinesia 45 without situs inversus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111857"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111858 obo:IAO_0000115 "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in GAS2L2 on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618449"^^xsd:string ; oboInOwl:hasExactSynonym "CILD41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111858"^^xsd:string ; a owl:Class ; rdfs:label "primary ciliary dyskinesia 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9562, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111859 obo:IAO_0000115 "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in AMMECR1 on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300990"^^xsd:string ; oboInOwl:hasExactSynonym "MFHIEN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111859"^^xsd:string ; a owl:Class ; rdfs:label "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111860 obo:IAO_0000115 "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564570"^^xsd:string, "OMIM:300194"^^xsd:string, "ORDO:86818"^^xsd:string, "SNOMEDCT_US_2021_03_01:720982007"^^xsd:string, "UMLS_CUI:C1846242"^^xsd:string ; oboInOwl:hasExactSynonym "AMME syndrome"^^xsd:string, "ATS-MR"^^xsd:string, "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"^^xsd:string, "chromosome Xq22.3 telomeric deletion syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111860"^^xsd:string ; a owl:Class ; rdfs:label "AMME complex"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_0111861 obo:IAO_0000115 "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300989"^^xsd:string ; oboInOwl:hasExactSynonym "MRLS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111861"^^xsd:string ; a owl:Class ; rdfs:label "Meester-Loeys syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111862 obo:IAO_0000115 "An azoospermia characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility."^^xsd:string ; oboInOwl:hasDbXref "ORDO:48"^^xsd:string ; oboInOwl:hasExactSynonym "CAVD"^^xsd:string, "CBAVD"^^xsd:string, "congenital bilateral agenesis of vas deferens"^^xsd:string, "congenital bilateral aplasia of vas deferens"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111862"^^xsd:string ; a owl:Class ; rdfs:label "congenital bilateral absence of vas deferens"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0080015, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111863 obo:IAO_0000115 "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in ADGRG2 on chromosome Xp22.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300985"^^xsd:string ; oboInOwl:hasExactSynonym "CBAVDX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111863"^^xsd:string ; a owl:Class ; rdfs:label "X-linked congenital bilateral absence of vas deferens"^^xsd:string ; rdfs:subClassOf obo:DOID_0111862, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111864 obo:IAO_0000115 "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in CFTR on chromosome 7q31.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277180"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111864"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive congenital bilateral absence of vas deferens"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111862, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111865 obo:IAO_0000115 "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300960"^^xsd:string, "ORDO:401973"^^xsd:string, "UMLS_CUI:C4085243"^^xsd:string ; oboInOwl:hasExactSynonym "male EBP disorder with neurological defects"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111865"^^xsd:string ; a owl:Class ; rdfs:label "MEND syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111866 obo:IAO_0000115 "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054463"^^xsd:string, "NCI:C4924"^^xsd:string, "ORDO:33364"^^xsd:string, "SNOMEDCT_US_2021_03_01:723551003"^^xsd:string, "UMLS_CUI:C1955934"^^xsd:string ; oboInOwl:hasExactSynonym "TTD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111866"^^xsd:string ; a owl:Class ; rdfs:label "trichothiodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111867 obo:IAO_0000115 "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111867"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0111866 . obo:DOID_0111868 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in RNF113A on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "MESH:D054463"^^xsd:string, "NCI:C156433"^^xsd:string, "OMIM:300953"^^xsd:string ; oboInOwl:hasExactSynonym "TTD5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111868"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0111869 obo:IAO_0000115 "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC3 on chromosome 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616390"^^xsd:string ; oboInOwl:hasExactSynonym "TTD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111869"^^xsd:string ; a owl:Class ; rdfs:label "photosensitive trichothiodystrophy 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111870 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in TARS1 on chromosome 5p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618546"^^xsd:string ; oboInOwl:hasExactSynonym "TTD7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111870"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111871 obo:IAO_0000115 "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2H5 on chromosome 6q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616395"^^xsd:string ; oboInOwl:hasExactSynonym "TTD3"^^xsd:string, "trichothiodystrophy complementation group A"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111871"^^xsd:string ; a owl:Class ; rdfs:label "photosensitive trichothiodystrophy 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111872 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2E2 on chromosome 8p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616943"^^xsd:string ; oboInOwl:hasExactSynonym "TTD6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111872"^^xsd:string ; a owl:Class ; rdfs:label "nonphotosensitive trichothiodystrophy 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111867, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111873 obo:IAO_0000115 "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC2 on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "NCI:C156433"^^xsd:string, "OMIM:601675"^^xsd:string ; oboInOwl:hasExactSynonym "TTD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111873"^^xsd:string ; a owl:Class ; rdfs:label "photosensitive trichothiodystrophy 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2960, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111874 obo:IAO_0000115 "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536320"^^xsd:string, "OMIM:211390"^^xsd:string, "ORDO:3123"^^xsd:string ; oboInOwl:hasExactSynonym "brittle hair-mental deficiency syndrome"^^xsd:string, "trichothiodystrophy type B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111874"^^xsd:string ; a owl:Class ; rdfs:label "Sabinas brittle hair syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0111867 . obo:DOID_0111875 obo:IAO_0000115 "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS309801"^^xsd:string ; oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111875"^^xsd:string ; a owl:Class ; rdfs:label "MLS syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0111876 obo:IAO_0000115 "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300952"^^xsd:string ; oboInOwl:hasExactSynonym "LSDMCA3"^^xsd:string, "linear skin defects with cardiomyopathy and other congenital anomalies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111876"^^xsd:string ; a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080015, obo:DOID_0111875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111877 obo:IAO_0000115 "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in COX7B on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300887"^^xsd:string ; oboInOwl:hasExactSynonym "APLCC"^^xsd:string, "LSDMCA2"^^xsd:string, "aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111877"^^xsd:string ; a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_0080015, obo:DOID_0111875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111878 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL11 on chromosome 1p36.11."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567254"^^xsd:string, "OMIM:612562"^^xsd:string ; oboInOwl:hasExactSynonym "DBA7"^^xsd:string, "RPL11-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111878"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111879 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL5 on chromosome 1p22.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538442"^^xsd:string, "OMIM:612561"^^xsd:string ; oboInOwl:hasExactSynonym "DBA6"^^xsd:string, "RPL5-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111879"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111880 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS27 on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617409"^^xsd:string ; oboInOwl:hasExactSynonym "DBA17"^^xsd:string, "RPS27-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111880"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111881 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS7 on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567253"^^xsd:string, "OMIM:612563"^^xsd:string ; oboInOwl:hasExactSynonym "DBA8"^^xsd:string, "RPS7-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111881"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111882 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL15 on chromosome 3p24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615550"^^xsd:string ; oboInOwl:hasExactSynonym "DBA12"^^xsd:string, "RPL15-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111882"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111883 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35A on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567280"^^xsd:string, "OMIM:612528"^^xsd:string ; oboInOwl:hasExactSynonym "DBA5"^^xsd:string, "RPL35A-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111883"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111884 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS10 on chromosome 6p21.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567650"^^xsd:string, "OMIM:613308"^^xsd:string ; oboInOwl:hasExactSynonym "DBA9"^^xsd:string, "RPS10-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111884"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111885 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536130"^^xsd:string, "OMIM:606129"^^xsd:string ; oboInOwl:hasExactSynonym "DBA2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111885"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111886 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35 on chromosome 9q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618312"^^xsd:string ; oboInOwl:hasExactSynonym "DBA19"^^xsd:string, "RPL35-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111886"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111887 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS24 on chromosome 10q22.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C536355"^^xsd:string, "OMIM:610629"^^xsd:string ; oboInOwl:hasExactSynonym "DBA3"^^xsd:string, "RPS24-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111887"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-blackfan anemia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111888 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS26 on chromosome 12q13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567649"^^xsd:string, "OMIM:613309"^^xsd:string ; oboInOwl:hasExactSynonym "DBA10"^^xsd:string, "RPS26-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111888"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111889 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS29 on chromosome 14q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615909"^^xsd:string ; oboInOwl:hasExactSynonym "DBA13"^^xsd:string, "RPS29-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111889"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111890 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS17 on chromosome 15q25.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567281"^^xsd:string, "OMIM:612527"^^xsd:string ; oboInOwl:hasExactSynonym "DBA4"^^xsd:string, "RPS17-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111890"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111891 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS15A on chromosome 16p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618313"^^xsd:string ; oboInOwl:hasExactSynonym "DBA20"^^xsd:string, "RPS15A-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111891"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111892 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL26 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614900"^^xsd:string ; oboInOwl:hasExactSynonym "DBA11"^^xsd:string, "RPL26-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111892"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111893 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL27 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617408"^^xsd:string ; oboInOwl:hasExactSynonym "DBA16"^^xsd:string, "RPL27-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111893"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111894 obo:IAO_0000115 "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in RPS28 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:606164"^^xsd:string ; oboInOwl:hasExactSynonym "DBA15"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111894"^^xsd:string ; a owl:Class ; rdfs:label "Diamond Blackfan anemia 15 with mandibulofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111895 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS19 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567302"^^xsd:string, "OMIM:105650"^^xsd:string ; oboInOwl:hasExactSynonym "DBA1"^^xsd:string, "RPS19-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111895"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111896 obo:IAO_0000115 "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL18 on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618310"^^xsd:string ; oboInOwl:hasExactSynonym "DBA18"^^xsd:string, "RPL18-related Diamond-Blackfan anemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111896"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111897 obo:IAO_0000115 "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in TSR2 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300946"^^xsd:string ; oboInOwl:hasExactSynonym "DBA14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111897"^^xsd:string ; a owl:Class ; rdfs:label "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111898 obo:IAO_0000115 "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300831"^^xsd:string, "ORDO:251383"^^xsd:string, "SNOMEDCT_US_2021_03_01:773329005"^^xsd:string, "UMLS_CUI:C3151781"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111898"^^xsd:string ; a owl:Class ; rdfs:label "CK syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3146, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111899 obo:IAO_0000115 "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567581"^^xsd:string, "OMIM:300807"^^xsd:string, "UMLS_CUI:C2749016"^^xsd:string ; oboInOwl:hasExactSynonym "THPH8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111899"^^xsd:string ; a owl:Class ; rdfs:label "X-linked thrombophilia due to factor IX defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0111900 obo:IAO_0000115 "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROS1 on chromosome 3q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612336"^^xsd:string, "UMLS_CUI:C3278211"^^xsd:string ; oboInOwl:hasExactSynonym "THPH5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111900"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant thrombophilia due to protein S deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111901 obo:IAO_0000115 "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in HCF2 on chromosome 22q11.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562865"^^xsd:string, "OMIM:612356"^^xsd:string, "SNOMEDCT_US_2021_03_01:234468009"^^xsd:string, "UMLS_CUI:C0398626"^^xsd:string ; oboInOwl:hasExactSynonym "HCF 2 deficiency"^^xsd:string, "HCF II deficiency"^^xsd:string, "THPH10"^^xsd:string, "thrombophilia due to heparin cofactor II deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111901"^^xsd:string ; a owl:Class ; rdfs:label "heparin cofactor II deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111902 obo:IAO_0000115 "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566056"^^xsd:string, "OMIM:188055"^^xsd:string, "UMLS_CUI:C1861171"^^xsd:string ; oboInOwl:hasExactSynonym "APC resistance"^^xsd:string, "PCCF deficiency"^^xsd:string, "PROC cofactor deficiency"^^xsd:string, "THPH2"^^xsd:string, "activated protein C resistance"^^xsd:string, "thrombophilia V"^^xsd:string, "thrombophilia due to deficiency of activated protein C cofactor"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111902"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to activated protein C resistance"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111903 obo:IAO_0000115 "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613116"^^xsd:string, "ORDO:217467"^^xsd:string, "UMLS_CUI:C2751090"^^xsd:string ; oboInOwl:hasExactSynonym "THPH11"^^xsd:string, "hereditary thrombophilia due to congenital HRG deficiency"^^xsd:string, "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111903"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to HRG deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111904 obo:IAO_0000115 "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in PROC on chromosome 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567353"^^xsd:string, "OMIM:612304"^^xsd:string, "UMLS_CUI:C2676759"^^xsd:string ; oboInOwl:hasExactSynonym "THPH4"^^xsd:string, "autosomal recessive PROC deficiency"^^xsd:string, "autosomal recessive protein C deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111904"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive thrombophilia due to protein C deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3756, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111905 obo:IAO_0000115 "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in PROS1 on chromosome 3q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614514"^^xsd:string, "ORDO:743"^^xsd:string, "UMLS_CUI:C3281092"^^xsd:string ; oboInOwl:hasExactSynonym "THPH6"^^xsd:string, "autosomal recessive thrombophilia due to congenital protein S deficiency"^^xsd:string, "severe hereditary thrombophilia due to congenital protein S deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111905"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive thrombophilia due to protein S deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2451, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111906 obo:IAO_0000115 "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567341"^^xsd:string, "OMIM:612348"^^xsd:string, "UMLS_CUI:C2676721"^^xsd:string ; oboInOwl:hasExactSynonym "THPH9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111906"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to decreased release of PLAT"^^xsd:string ; rdfs:subClassOf obo:DOID_2452 . obo:DOID_0111907 obo:IAO_0000115 "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10815"^^xsd:string, "OMIM:188050"^^xsd:string, "UMLS_CUI:C3160733"^^xsd:string ; oboInOwl:hasExactSynonym "THPH1"^^xsd:string, "prothrombin-related thrombophilia"^^xsd:string, "thrombophilia due to factor 2 defect"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111907"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to thrombin defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111908 obo:IAO_0000115 "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in THBD on chromosome 20p11.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566057"^^xsd:string, "OMIM:614486"^^xsd:string, "ORDO:436169"^^xsd:string, "UMLS_CUI:C3280976"^^xsd:string ; oboInOwl:hasExactSynonym "THBD-related bleeding disorder"^^xsd:string, "THBD-related coagulopathy"^^xsd:string, "THPH12"^^xsd:string, "thrombomodulin-related bleeding disorder"^^xsd:string, "thrombomodulin-related coagulopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111908"^^xsd:string ; a owl:Class ; rdfs:label "thrombophilia due to thrombomodulin defect"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_2452, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0111909 obo:IAO_0000115 "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROC on chromosome 2q14.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567163"^^xsd:string, "OMIM:176860"^^xsd:string, "UMLS_CUI:C2674321"^^xsd:string ; oboInOwl:hasExactSynonym "THPH3"^^xsd:string, "autosomal dominant PROC deficiency"^^xsd:string, "autosomal dominant protein C deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111909"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant thrombophilia due to protein C deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_3756, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111910 obo:IAO_0000115 "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS258150"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111910"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure"^^xsd:string ; rdfs:subClassOf obo:DOID_12336 . obo:DOID_0111911 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in FSIP2 on chromosome 2q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618153"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111911"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111912 obo:IAO_0000115 "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618670"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111912"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111913 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TDRD9 on chromosome 14q32.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618110"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111913"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111914 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in QRICH2 on chromosome 17q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618341"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111914"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111915 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in WDR66 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618152"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF33"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111915"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111916 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in FANCM on chromosome 14q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618086"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111916"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111917 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in ansence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in SPEF2 on chromosome 5p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618751"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111917"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111918 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618664"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111918"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111919 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in ARMC2 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618433"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF38"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111919"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111920 obo:IAO_0000115 "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TEX15 on chromosome 8p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617960"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF25"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111920"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111921 obo:IAO_0000115 "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in PPP2R3C on chromosome 14q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618420"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF36"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111921"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111922 obo:IAO_0000115 "A spermatogenic failure characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in PMFBP1 on chromosome 16q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618112"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF31"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111922"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111923 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC29 on chromosome 4q31.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618745"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111923"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111924 obo:IAO_0000115 "A spermatogenic failure characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in TSGA10 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617961"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF26"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111924"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111925 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in SOHLH1 on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618115"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111925"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111926 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in DNAH17 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618643"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF39"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111926"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111927 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in TTC21A on chromosome 3p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618429"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF37"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111927"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111928 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617965"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111928"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111929 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in CFAP69 on chromosome 7q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617959"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF24"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111929"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111930 obo:IAO_0000115 "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in SPINK2 on chromosome 4q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618091"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111930"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111931 obo:IAO_0000115 "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in FAM58A on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:10295"^^xsd:string, "MESH:C567475"^^xsd:string, "OMIM:300707"^^xsd:string, "ORDO:140952"^^xsd:string, "SNOMEDCT_US_2021_03_01:723581006"^^xsd:string, "UMLS_CUI:C2678045"^^xsd:string ; oboInOwl:hasExactSynonym "STAR syndrome"^^xsd:string, "syndactyly with renal and anogenital malformations"^^xsd:string, "toe syndactyly, telecanthus, and anogenital and renal malformations"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111931"^^xsd:string ; a owl:Class ; rdfs:label "syndactyly-telecanthus-anogenital and renal malformations syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111932 obo:IAO_0000115 "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in MECP2 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566878"^^xsd:string, "NCI:C132293"^^xsd:string, "OMIM:300673"^^xsd:string, "ORDO:209370"^^xsd:string, "SNOMEDCT_US_2021_03_01:711487002"^^xsd:string, "UMLS_CUI:C1968556"^^xsd:string ; oboInOwl:hasExactSynonym "neonatal severe encephalopathy due to MECP2 mutations"^^xsd:string, "severe neonatal-onset encephalopathy with microcephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111932"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital encephalopathy due to MECP2 mutation"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080015, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0111933 obo:IAO_0000115 "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:7389"^^xsd:string, "MESH:C567067"^^xsd:string, "NCI:C126738"^^xsd:string, "OMIM:300653"^^xsd:string, "ORDO:713"^^xsd:string, "UMLS_CUI:C1970848"^^xsd:string ; oboInOwl:hasExactSynonym "GSD due to phosphoglycerate kinase 1 deficiency"^^xsd:string, "PGK1 deficiency"^^xsd:string, "glycogen storage disease due to phosphoglycerate kinase 1 deficiency"^^xsd:string, "glycogenosis due to phosphoglycerate kinase 1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111933"^^xsd:string ; a owl:Class ; rdfs:label "phosphoglycerate kinase 1 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4194, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0111934 obo:IAO_0000115 "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616126"^^xsd:string, "ORDO:319563"^^xsd:string ; oboInOwl:hasExactSynonym "IMD38"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"^^xsd:string, "autosomal recessive ISG15 deficiency"^^xsd:string, "immunodeficiency 38 with basal ganglia calcification"^^xsd:string, "immunodeficiency 38, mycobacteriosis, autosomal recessive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111934"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 38"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111935 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615593"^^xsd:string, "ORDO:431149"^^xsd:string, "UMLS_CUI:C3810053"^^xsd:string ; oboInOwl:hasExactSynonym "IMD16"^^xsd:string, "OX40 deficiency"^^xsd:string, "combined immunodeficiency due to OX40 deficiency"^^xsd:string, "combined immunodeficiency with childhood-onset Kaposi sarcoma"^^xsd:string, "combined immunodeficiency with impaired immunity to HHV-8"^^xsd:string, "combined immunodeficiency with impaired immunity to human herpes virus 8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111935"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111936 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in PIK3CD on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "GARD:11983"^^xsd:string, "MESH:C585640"^^xsd:string, "OMIM:615513"^^xsd:string, "ORDO:397596"^^xsd:string, "SNOMEDCT_US_2021_03_01:711480000"^^xsd:string, "UMLS_CUI:C3714976"^^xsd:string ; oboInOwl:hasExactSynonym "APDS"^^xsd:string, "IMD14"^^xsd:string, "PASLI disease"^^xsd:string, "activated PI3K-delta syndrome"^^xsd:string, "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111936"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111937 obo:IAO_0000115 "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in LCK on chromosome 1p35.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615758"^^xsd:string, "ORDO:280142"^^xsd:string, "UMLS_CUI:C4014233"^^xsd:string ; oboInOwl:hasExactSynonym "IMD22"^^xsd:string, "SCID due to LCK deficiency"^^xsd:string, "SCID due to lymphocyte-specific protein tyrosine kinase deficiency"^^xsd:string, "severe combined immunodeficiency due to LCK deficiency"^^xsd:string, "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111937"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111938 obo:IAO_0000115 "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615897"^^xsd:string, "ORDO:420573"^^xsd:string, "UMLS_CUI:C4014617"^^xsd:string ; oboInOwl:hasExactSynonym "IMD24"^^xsd:string, "SCID due to CTPS1 deficiency"^^xsd:string, "severe combined immunodeficiency due to CTPS1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111938"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111939 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in BCL10 on chromosome 1p22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616098"^^xsd:string, "UMLS_CUI:C4015195"^^xsd:string ; oboInOwl:hasExactSynonym "IMD37"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111939"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 37"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111940 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616622"^^xsd:string, "ORDO:477857"^^xsd:string ; oboInOwl:hasExactSynonym "IMD42"^^xsd:string, "autosomal recessive MSMD due to complete RORgamma receptor defiency"^^xsd:string, "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"^^xsd:string, "autosomal recessive primary immunodeficiency due to RORC mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111940"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111941 obo:IAO_0000115 "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615707"^^xsd:string, "ORDO:437552"^^xsd:string ; oboInOwl:hasExactSynonym "CD16 deficiency"^^xsd:string, "IMD20"^^xsd:string, "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity"^^xsd:string, "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111941"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111942 obo:IAO_0000115 "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in CD247 on chromosome 1q24.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565712"^^xsd:string, "OMIM:610163"^^xsd:string, "UMLS_CUI:C1857798"^^xsd:string ; oboInOwl:hasExactSynonym "IMD25"^^xsd:string, "immunodeficiency due to defect in CD3-zeta"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111942"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111943 obo:IAO_0000115 "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:387"^^xsd:string, "MESH:C537590"^^xsd:string, "OMIM:269840"^^xsd:string, "ORDO:911"^^xsd:string, "UMLS_CUI:C1849236"^^xsd:string ; oboInOwl:hasExactSynonym "IMD48"^^xsd:string, "combined immunodeficiency due to ZAP70 deficiency"^^xsd:string, "zeta-associated-protein 70 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111943"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111944 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613796"^^xsd:string, "ORDO:391311"^^xsd:string ; oboInOwl:hasExactSynonym "IMD31B"^^xsd:string, "autosomal recessive STAT1 deficiency"^^xsd:string, "autosomal recessive immunodeficiency 31B, mycobacterial and viral infections"^^xsd:string, "predisposition to severe viral infection due to STAT1 deficiency"^^xsd:string, "susceptibility to viral and mycobacterial infections due to STAT1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111944"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 31B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111945 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614892"^^xsd:string, "ORDO:319595"^^xsd:string ; oboInOwl:hasExactSynonym "IMD31A"^^xsd:string, "MSMD due to partial STAT1 deficiency"^^xsd:string, "MSMD due to partial signal transducer and activator of transcription 1 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"^^xsd:string, "autosomal dominant immunodeficiency 31A, mycobacteriosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111945"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 31A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111946 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614162"^^xsd:string, "ORDO:391487"^^xsd:string ; oboInOwl:hasExactSynonym "CANDF7"^^xsd:string, "IMD31C"^^xsd:string, "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"^^xsd:string, "autosomal dominant chronic mucocutaneous familial candidiasis"^^xsd:string, "autosomal dominant immunodeficiency 31C"^^xsd:string, "familial candidiasis 7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111946"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 31C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111947 obo:IAO_0000115 "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10934"^^xsd:string, "MESH:D000077428"^^xsd:string, "NCI:C126349"^^xsd:string, "OMIM:614172"^^xsd:string, "ORDO:228423"^^xsd:string, "SNOMEDCT_US_2020_03_01:778024005"^^xsd:string ; oboInOwl:hasExactSynonym "DCML"^^xsd:string, "GATA2 deficiency"^^xsd:string, "IMD21"^^xsd:string, "MonoMAC"^^xsd:string, "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections"^^xsd:string, "dendritic cell, monocyte, B and NK lymphoid deficiency"^^xsd:string, "monocyte-B-natural killer-dendritic cell deficiency syndrome"^^xsd:string, "monocytopenia and mycobacterial infection syndrome"^^xsd:string, "monocytopenia with susceptibility to infections"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111947"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111948 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616740"^^xsd:string, "ORDO:476113"^^xsd:string, "UMLS_CUI:C4225219"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to TFRC deficiency"^^xsd:string, "IMD46"^^xsd:string, "TFRC-related combined immunodeficiency"^^xsd:string, "combined immunodeficiency due to TFRC deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111948"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111949 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616005"^^xsd:string, "UMLS_CUI:C4014934"^^xsd:string ; oboInOwl:hasExactSynonym "IMD36"^^xsd:string, "activated phosphoinositide 3-kinase delta syndrome 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111949"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 36"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111950 obo:IAO_0000115 "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614890"^^xsd:string, "ORDO:319558"^^xsd:string ; oboInOwl:hasExactSynonym "IL12B deficiency"^^xsd:string, "IMD29"^^xsd:string, "MSMD due to complete IL12B deficiency"^^xsd:string, "MSMD due to complete interleukin 12B deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"^^xsd:string, "immunodeficiency 29, mycobacteriosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111950"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111951 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12653"^^xsd:string, "OMIM:616433"^^xsd:string, "ORDO:447737"^^xsd:string, "UMLS_CUI:C4225328"^^xsd:string ; oboInOwl:hasExactSynonym "DOCK2 deficiency"^^xsd:string, "IMD40"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111951"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111952 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618108"^^xsd:string, "ORDO:529977"^^xsd:string ; oboInOwl:hasExactSynonym "IMD57"^^xsd:string, "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"^^xsd:string, "immunodeficiency 57 with autoinflammation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111952"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 57"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111953 obo:IAO_0000115 "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:4331"^^xsd:string, "OMIM:615816"^^xsd:string, "ORDO:443811"^^xsd:string, "UMLS_CUI:C4014371"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to PGM3 deficiency"^^xsd:string, "IMD23"^^xsd:string, "PGM3-CDG"^^xsd:string, "PGM3-related congenital disorder of glycosylation"^^xsd:string, "combined immunodeficiency due to PGM3 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111953"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111954 obo:IAO_0000115 "A combined T cell and B ell immunodeficiency characterized by dysregulation of both B and T cells, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in BACH2 on chromosome 6q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618394"^^xsd:string, "UMLS_CUI:C5193072"^^xsd:string ; oboInOwl:hasExactSynonym "BACH2-related immunodeficiency and autoimmunity"^^xsd:string, "BRIDA"^^xsd:string, "IMD60"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111954"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 60"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111955 obo:IAO_0000115 "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C535530"^^xsd:string, "OMIM:209950"^^xsd:string, "ORDO:319569"^^xsd:string ; oboInOwl:hasExactSynonym "IMD27A"^^xsd:string, "autosomal recessive IFNGR1 deficiency"^^xsd:string, "autosomal recessive MSMD due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency"^^xsd:string, "autosomal recessive immunodeficiency 27A, mycobacteriosis"^^xsd:string, "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111955"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 27A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111956 obo:IAO_0000115 "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615978"^^xsd:string, "ORDO:319581"^^xsd:string ; oboInOwl:hasExactSynonym "IMD27B"^^xsd:string, "autosomal dominant IFNGR1 deficiency"^^xsd:string, "autosomal dominant MSMD due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency"^^xsd:string, "autosomal dominant immunodeficiency 27B, mycobacteriosis"^^xsd:string, "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"^^xsd:string, "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111956"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 27B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111957 obo:IAO_0000115 "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615206"^^xsd:string, "ORDO:357237"^^xsd:string, "UMLS_CUI:C3554686"^^xsd:string ; oboInOwl:hasExactSynonym "CARD11 deficiency"^^xsd:string, "IMD11A"^^xsd:string, "SCID due to CARD11 deficiency"^^xsd:string, "severe combined immunodeficiency due to CARD11 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111957"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 11A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111958 obo:IAO_0000115 "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in CARD11 on chromosome 7p22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617638"^^xsd:string, "UMLS_CUI:C4539957"^^xsd:string ; oboInOwl:hasExactSynonym "IMD11B"^^xsd:string, "atopic dermatitis, elevated IgE, and eosinophilia"^^xsd:string, "immunodeficiency 11B with atopic dermatitis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111958"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 11B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111959 obo:IAO_0000115 "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in IKBKB on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615592"^^xsd:string, "UMLS_CUI:C4747743"^^xsd:string ; oboInOwl:hasExactSynonym "IMD15B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111959"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 15B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111960 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in IKBKB on chromosome 8p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618204"^^xsd:string, "UMLS_CUI:C4748694"^^xsd:string ; oboInOwl:hasExactSynonym "IMD15A"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111960"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 15A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111961 obo:IAO_0000115 "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615966"^^xsd:string, "ORDO:317425"^^xsd:string, "UMLS_CUI:C4014833"^^xsd:string ; oboInOwl:hasExactSynonym "IMD26"^^xsd:string, "SCID due to DNA-PKcs deficiency"^^xsd:string, "immunodeficiency 26, with or without neurologic abnormalities"^^xsd:string, "severe combined immunodeficiency due to DNA-PKcs deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111961"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111962 obo:IAO_0000115 "A primary immunodeficiency disease that involves multiple components of the immune system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111962"^^xsd:string ; a owl:Class ; rdfs:label "combined immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0111963 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111963"^^xsd:string ; a owl:Class ; rdfs:label "dendritic cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_0111964 obo:IAO_0000115 "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111964"^^xsd:string ; a owl:Class ; rdfs:label "B cell and dendritic cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_0111965 obo:IAO_0000115 "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111965"^^xsd:string ; a owl:Class ; rdfs:label "T cell, B cell, and NK cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_0111966 obo:IAO_0000115 "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111966"^^xsd:string ; a owl:Class ; rdfs:label "monocyte, dendritic cell, and NK cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0111962 . obo:DOID_0111967 obo:IAO_0000115 "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566492"^^xsd:string, "NCI:C123729"^^xsd:string, "OMIM:609981"^^xsd:string, "ORDO:75391"^^xsd:string, "UMLS_CUI:C1864947"^^xsd:string ; oboInOwl:hasExactSynonym "IMD54"^^xsd:string, "NKCD"^^xsd:string, "familial isolated natural killer cell deficiency"^^xsd:string, "primary immunodeficiency due to MCM4 deficiency"^^xsd:string, "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111967"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 54"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080709, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111968 obo:IAO_0000115 "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in IL2RA on chromosome 10p15.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565232"^^xsd:string, "OMIM:606367"^^xsd:string, "ORDO:169100"^^xsd:string ; oboInOwl:hasExactSynonym "CD25 deficiency"^^xsd:string, "IL2RA deficiency"^^xsd:string, "IMD41"^^xsd:string, "immunodeficiency 41 with lymphoproliferation and autoimmunity"^^xsd:string, "immunodeficiency due to CD25 deficiency"^^xsd:string, "interleukin-2 receptor alpha chain deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111968"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111969 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in IRF7 on chromosome 11p15.5."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616345"^^xsd:string ; oboInOwl:hasExactSynonym "IMD39"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111969"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 39"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111970 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4."^^xsd:string ; oboInOwl:hasDbXref "MESH:C557827"^^xsd:string, "OMIM:612783"^^xsd:string, "ORDO:317430"^^xsd:string, "UMLS_CUI:C2748557"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to STIM1 deficiency"^^xsd:string, "IMD10"^^xsd:string, "STIM1 deficiency"^^xsd:string, "combined immunodeficiency due to STIM1 deficiency"^^xsd:string, "immune dysfunction with T-cell inactivation due to calcium entry defect 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111970"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111971 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3E on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615615"^^xsd:string ; oboInOwl:hasExactSynonym "CD3-epsilon deficiency"^^xsd:string, "IMD18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111971"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111972 obo:IAO_0000115 "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615617"^^xsd:string, "UMLS_CUI:C3810147"^^xsd:string ; oboInOwl:hasExactSynonym "CD3-delta deficiency"^^xsd:string, "IMD19"^^xsd:string, "SCID T cell-negative, B cell-positive, NK cell-positive"^^xsd:string, "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111972"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_627, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111973 obo:IAO_0000115 "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615607"^^xsd:string, "UMLS_CUI:C3810107"^^xsd:string ; oboInOwl:hasExactSynonym "CD3-gamma deficiency"^^xsd:string, "IMD17"^^xsd:string, "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive"^^xsd:string, "immunodeficiency 17, CD3 gamma deficient"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111973"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111974 obo:IAO_0000115 "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in HYOU1 on chromosome 11q23.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565535"^^xsd:string, "OMIM:233600"^^xsd:string, "UMLS_CUI:C1856263"^^xsd:string ; oboInOwl:hasExactSynonym "IMD59"^^xsd:string, "granulocytopenia with immunoglobin abnormality"^^xsd:string, "immunodeficiency 59 and hypoglycemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111974"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 59"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111964, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111975 obo:IAO_0000115 "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616636"^^xsd:string ; oboInOwl:hasExactSynonym "IMD44"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111975"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111976 obo:IAO_0000115 "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ORAI1 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "MESH:C557826"^^xsd:string, "OMIM:612782"^^xsd:string, "ORDO:317428"^^xsd:string, "UMLS_CUI:C2748568"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to ORAI1 deficiency"^^xsd:string, "IMD9"^^xsd:string, "combined immunodeficiency due to ORAI1 deficiency"^^xsd:string, "immune dysfunction with T-cell inactivation due to calcium entry defect 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111976"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111977 obo:IAO_0000115 "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in TRAC on chromosome 14q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615387"^^xsd:string, "ORDO:397959"^^xsd:string, "UMLS_CUI:C3809332"^^xsd:string ; oboInOwl:hasExactSynonym "IMD7"^^xsd:string, "TCR-alpha-beta-positive T-cell deficiency"^^xsd:string, "immunodeficiency 7, TCR-alpha/beta deficient"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111977"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111978 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in IRF9 on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618648"^^xsd:string ; oboInOwl:hasExactSynonym "IMD65"^^xsd:string, "immunodeficiency 65, susceptibility to viral infections"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111978"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 65"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111979 obo:IAO_0000115 "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in BCL11B on chromosome 14q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617237"^^xsd:string, "UMLS_CUI:C4310656"^^xsd:string ; oboInOwl:hasExactSynonym "IMD49"^^xsd:string, "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities"^^xsd:string, "severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111979"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111980 obo:IAO_0000115 "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in RASGRP1 on chromosome 15q14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618534"^^xsd:string ; oboInOwl:hasExactSynonym "IMD64"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111980"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 64"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111965, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111981 obo:IAO_0000115 "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C565476"^^xsd:string, "OMIM:241600"^^xsd:string ; oboInOwl:hasExactSynonym "B2M deficiency"^^xsd:string, "IMD43"^^xsd:string, "beta-2-microglobulin deficiency"^^xsd:string, "hypercatabolic hypoproteinemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111981"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111982 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615207"^^xsd:string, "ORDO:357329"^^xsd:string, "UMLS_CUI:C3554687"^^xsd:string ; oboInOwl:hasExactSynonym "IL21R immunodeficiency"^^xsd:string, "IMD56"^^xsd:string, "combined immunodeficiency due to IL21R deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111982"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 56"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111983 obo:IAO_0000115 "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617514"^^xsd:string, "ORDO:504523"^^xsd:string, "UMLS_CUI:C4479588"^^xsd:string ; oboInOwl:hasExactSynonym "IMD52"^^xsd:string, "severe combined immunodeficiency due to LAT deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111983"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111984 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in CARMIL2 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618131"^^xsd:string, "ORDO:542301"^^xsd:string, "UMLS_CUI:C4748304"^^xsd:string ; oboInOwl:hasExactSynonym "IMD58"^^xsd:string, "severe combined immunodeficiency due to CARMIL2 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111984"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 58"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111985 obo:IAO_0000115 "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in IRF8 on chromosome 16q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:226990"^^xsd:string, "UMLS_CUI:C4016741"^^xsd:string ; oboInOwl:hasExactSynonym "IMD32B"^^xsd:string, "autosomal recessive IRF8 deficiency"^^xsd:string, "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111985"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 32B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111966, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111986 obo:IAO_0000115 "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in IRF8 on chromosome 16q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614893"^^xsd:string, "ORDO:319600"^^xsd:string, "UMLS_CUI:C3808589"^^xsd:string ; oboInOwl:hasExactSynonym "IMD32A"^^xsd:string, "MSMD due to partial IRF8 deficiency"^^xsd:string, "MSMD due to partial interferon regulatory factor 8 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"^^xsd:string, "immunodeficiency 32A, mycobacteriosis, autosomal dominant"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111986"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 32A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111963, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111987 obo:IAO_0000115 "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in UNC119 on chromosome 17q11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:12375"^^xsd:string, "OMIM:615518"^^xsd:string, "ORDO:228000"^^xsd:string, "UMLS_CUI:C3809768"^^xsd:string ; oboInOwl:hasExactSynonym "ICL"^^xsd:string, "IMD13"^^xsd:string, "idiopathic CD4 lymphopenia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111987"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0111988 obo:IAO_0000115 "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in MALT1 on chromosome 18q21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615468"^^xsd:string, "ORDO:397964"^^xsd:string ; oboInOwl:hasExactSynonym "IMD12"^^xsd:string, "combined immunodeficiency due to MALT1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111988"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111989 obo:IAO_0000115 "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C566928"^^xsd:string, "OMIM:611521"^^xsd:string, "ORDO:331226"^^xsd:string ; oboInOwl:hasExactSynonym "IMD35"^^xsd:string, "TYK2 deficiency"^^xsd:string, "autosomal recessiv HIES with atypical mycobacteriosis"^^xsd:string, "autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis"^^xsd:string, "susceptibility to infection due to TYK2 deficiency"^^xsd:string, "tyrosine kinase 2 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111989"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111990 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614891"^^xsd:string, "ORDO:319552"^^xsd:string, "UMLS_CUI:C4013949"^^xsd:string ; oboInOwl:hasExactSynonym "IMD30"^^xsd:string, "MSMD due to complete IL12RB1 deficiency"^^xsd:string, "MSMD due to complete interleukin 12 receptor beta 1 deficiency"^^xsd:string, "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111990"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111991 obo:IAO_0000115 "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in ARHGEF1 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618459"^^xsd:string, "UMLS_CUI:C5193109"^^xsd:string ; oboInOwl:hasExactSynonym "IMD62"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111991"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 62"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111992 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in RELB on chromosome 19q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617585"^^xsd:string, "UMLS_CUI:C4539811"^^xsd:string ; oboInOwl:hasExactSynonym "IMD53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111992"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111993 obo:IAO_0000115 "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617827"^^xsd:string, "ORDO:505227"^^xsd:string ; oboInOwl:hasExactSynonym "IMD55"^^xsd:string, "combined immunodeficiency due to GINS1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111993"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 55"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111994 obo:IAO_0000115 "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in IFNAR2 on chromosome 21q22.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616669"^^xsd:string ; oboInOwl:hasExactSynonym "IMD45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111994"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111995 obo:IAO_0000115 "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614889"^^xsd:string, "ORDO:319547"^^xsd:string ; oboInOwl:hasExactSynonym "IFNGR2 deficiency"^^xsd:string, "IMD28"^^xsd:string, "MSMD due to complete IFNgammaR2 deficiency"^^xsd:string, "MSMD due to complete interferon gamma receptor 2 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"^^xsd:string, "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency"^^xsd:string, "immunodeficiency 28, mycobacteriosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111995"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111996 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613953"^^xsd:string ; oboInOwl:hasExactSynonym "CANDF5"^^xsd:string, "IMD51"^^xsd:string, "familial candidiasis 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111996"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111997 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in IL2RB on chromosome 22q12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618495"^^xsd:string, "UMLS_CUI:C5193126"^^xsd:string ; oboInOwl:hasExactSynonym "IL2RB deficiency"^^xsd:string, "IMD63"^^xsd:string, "immunodeficiency 63 with lymphoproliferation and autoimmunity"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111997"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111998 obo:IAO_0000115 "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in MKL1 on chromosome 22q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618847"^^xsd:string ; oboInOwl:hasExactSynonym "IMD66"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111998"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 66"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0111999 obo:IAO_0000115 "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in SH3KBP1 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "MESH:C538057"^^xsd:string, "OMIM:300310"^^xsd:string, "UMLS_CUI:C1845903"^^xsd:string ; oboInOwl:hasExactSynonym "IMD61"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0111999"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 61"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2115, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112000 obo:IAO_0000115 "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in CYBB on chromosome Xp21.1-p11.4."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567068"^^xsd:string, "OMIM:300645"^^xsd:string, "UMLS_CUI:C1970859"^^xsd:string ; oboInOwl:hasExactSynonym "AMCBX2"^^xsd:string, "IMD34"^^xsd:string, "X-linked MSMD due to CYBB deficiency"^^xsd:string, "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"^^xsd:string, "familial atypical mycobacteriosis X-linked 2"^^xsd:string, "immunodeficiency 34, mycobacteriosis, X-linked"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112000"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_3262, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112001 obo:IAO_0000115 "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300988"^^xsd:string, "ORDO:504530"^^xsd:string ; oboInOwl:hasExactSynonym "CID due to Moesin deficiency"^^xsd:string, "IMD50"^^xsd:string, "MSN-related combined immunodeficiency"^^xsd:string, "X-linked Moesin-associated immunodeficiency"^^xsd:string, "combined immunodeficiency due to Moesin deficiency"^^xsd:string, "immunodeficiency 50 X linked recessive"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112001"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112002 obo:IAO_0000115 "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300972"^^xsd:string, "UMLS_CUI:C4310819"^^xsd:string ; oboInOwl:hasExactSynonym "CDG IIs"^^xsd:string, "CDG2S"^^xsd:string, "CDGIIs"^^xsd:string, "IMD47"^^xsd:string, "congenital disorder of glycosylation type IIs"^^xsd:string, "immunodeficiency and hepatopathy with or without neurologic features"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112002"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050571, obo:DOID_0080012, obo:DOID_612, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010978 ] . obo:DOID_0112003 obo:IAO_0000115 "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in IKBKG on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567070"^^xsd:string, "OMIM:300636"^^xsd:string ; oboInOwl:hasExactSynonym "IMD33"^^xsd:string, "X-linked MSMD due to IKBKG deficiency"^^xsd:string, "X-linked MSMD due to NEMO deficiency"^^xsd:string, "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"^^xsd:string, "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112003"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112004 obo:IAO_0000115 "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in ARPC1B on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617718"^^xsd:string ; oboInOwl:hasExactSynonym "IMD71"^^xsd:string, "PLTEID"^^xsd:string, "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia"^^xsd:string, "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112004"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112005 obo:IAO_0000115 "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in IVNS1ABP on chromosome 1q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618969"^^xsd:string ; oboInOwl:hasExactSynonym "IMD70"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112005"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_628, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112006 obo:IAO_0000115 "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in IFNG on chromosome 12q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618963"^^xsd:string ; oboInOwl:hasExactSynonym "IMD69"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112006"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080710, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112007 obo:IAO_0000115 "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in GPR101 on chromosome Xq26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300943"^^xsd:string ; oboInOwl:hasExactSynonym "GH-secreting pituitary adenoma 2"^^xsd:string, "PITA2"^^xsd:string, "X-linked acromegaly"^^xsd:string, "acromegaly due to pituitary adenoma 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112007"^^xsd:string ; a owl:Class ; rdfs:label "growth hormone secreting pituitary adenoma 2"^^xsd:string ; rdfs:subClassOf obo:DOID_6255 . obo:DOID_0112008 obo:IAO_0000115 "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in CDH23 on chromosome 10q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617540"^^xsd:string ; oboInOwl:hasExactSynonym "PITA5"^^xsd:string, "pituitary adenoma 5, multiple types"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112008"^^xsd:string ; a owl:Class ; rdfs:label "pituitary adenoma 5"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_0112009 obo:IAO_0000115 "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:102200"^^xsd:string ; oboInOwl:hasExactSynonym "PITA1"^^xsd:string, "pituitary adenoma 1, multiple types"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112009"^^xsd:string ; a owl:Class ; rdfs:label "pituitary adenoma 1"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_0112010 obo:IAO_0000115 "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617686"^^xsd:string ; oboInOwl:hasExactSynonym "PITA3"^^xsd:string, "pituitary adenoma 3, multiple types"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112010"^^xsd:string ; a owl:Class ; rdfs:label "pituitary adenoma 3"^^xsd:string ; rdfs:subClassOf obo:DOID_3829 . obo:DOID_0112011 obo:IAO_0000115 "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:4075"^^xsd:string, "MEDDRA:10068842"^^xsd:string, "ORDO:659"^^xsd:string ; oboInOwl:hasExactSynonym "OLMS"^^xsd:string, "Olmsted syndrome"^^xsd:string, "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques"^^xsd:string, "palmoplantar and periorificial keratoderma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112011"^^xsd:string ; a owl:Class ; rdfs:label "mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string ; rdfs:subClassOf obo:DOID_161 . obo:DOID_0112012 obo:IAO_0000115 "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300918"^^xsd:string ; oboInOwl:hasExactSynonym "OLMSX"^^xsd:string, "X-linked Olmsted syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112012"^^xsd:string ; a owl:Class ; rdfs:label "X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112011, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112013 obo:IAO_0000115 "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614594"^^xsd:string ; oboInOwl:hasExactSynonym "OLMS1"^^xsd:string, "Olmsted syndrome 1"^^xsd:string, "autosomal dominant Olmsted syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112013"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112011, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112014 obo:IAO_0000115 "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in MYOCD on chromosome 17p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618719"^^xsd:string ; oboInOwl:hasExactSynonym "MGBL"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112014"^^xsd:string ; a owl:Class ; rdfs:label "congenital megabladder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0080015, obo:DOID_365, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112015 obo:IAO_0000115 "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in NCKAP1L on chromosome 12q13.1-q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618982"^^xsd:string ; oboInOwl:hasExactSynonym "immunodeficiency 72 with autoinflammation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112015"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112016 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300428"^^xsd:string ; oboInOwl:hasExactSynonym "MRX2"^^xsd:string, "X-linked mental retardation 2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112016"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112017 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300355"^^xsd:string ; oboInOwl:hasExactSynonym "MRX73"^^xsd:string, "X-linked mental retardation 73"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112017"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112018 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in FRMPD4 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300983"^^xsd:string ; oboInOwl:hasExactSynonym "MRX104"^^xsd:string, "X-linked mental retardation 104"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112018"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 104"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112019 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in RPS6KA3 on chromosome Xp22.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300844"^^xsd:string ; oboInOwl:hasExactSynonym "MRX19"^^xsd:string, "X-linked mental retardation 19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112019"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112020 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in KLHL15 on chromosome Xp22.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300982"^^xsd:string ; oboInOwl:hasExactSynonym "MRX103"^^xsd:string, "X-linked mental retardation 103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112020"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 103"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112021 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:5614"^^xsd:string, "OMIM:300419"^^xsd:string ; oboInOwl:hasExactSynonym "ARX-related intellectual disability"^^xsd:string, "MRXARX"^^xsd:string, "X-linked mental retardation 29"^^xsd:string, "X-linked mental retardation 29 and others"^^xsd:string, "X-linked mental retardation 32"^^xsd:string, "X-linked mental retardation 33"^^xsd:string, "X-linked mental retardation 38"^^xsd:string, "X-linked mental retardation 43"^^xsd:string, "X-linked mental retardation 52"^^xsd:string, "X-linked mental retardation 54"^^xsd:string, "X-linked mental retardation 76"^^xsd:string, "X-linked mental retardation 87"^^xsd:string, "X-linked mental retardation with or without seizures ARX-related"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112021"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability ARX-related"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112022 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in IL1RAPL1 on chromosome Xp21.3-p21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300143"^^xsd:string ; oboInOwl:hasExactSynonym "MRX21"^^xsd:string, "MRX34"^^xsd:string, "X-linked mental retardation 21"^^xsd:string, "X-linked mental retardation 21/34"^^xsd:string, "X-linked mental retardation 34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112022"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112023 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300047"^^xsd:string ; oboInOwl:hasExactSynonym "MRX20"^^xsd:string, "X-linked mental retardation 20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112023"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112024 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in TSPAN7 on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300210"^^xsd:string ; oboInOwl:hasExactSynonym "MRX58"^^xsd:string, "X-linked mental retardation 58"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112024"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 58"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112025 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in USP9X on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "GARD:13638"^^xsd:string, "OMIM:300968"^^xsd:string ; oboInOwl:hasExactSynonym "MRXS99F"^^xsd:string, "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"^^xsd:string, "female-restricted syndromic X-linked mental retardation 99"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112025"^^xsd:string ; a owl:Class ; rdfs:label "female-restricted syndromic X-linked intellectual disability 99"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112026 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in USP9X on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300919"^^xsd:string ; oboInOwl:hasExactSynonym "MRX99"^^xsd:string, "X-linked mental retardation 99"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112026"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 99"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112027 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8557"^^xsd:string, "OMIM:300062"^^xsd:string ; oboInOwl:hasExactSynonym "MRX14"^^xsd:string, "X-linked mental retardation 14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112027"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112028 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300498"^^xsd:string ; oboInOwl:hasExactSynonym "MRX45"^^xsd:string, "X-linked mental retardation 45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112028"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112029 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300115"^^xsd:string ; oboInOwl:hasExactSynonym "MRX50"^^xsd:string, "X-linked intellectual developmental disorder 50"^^xsd:string, "X-linked mental retardation 50"^^xsd:string, "XLID50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112029"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112030 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300505"^^xsd:string ; oboInOwl:hasExactSynonym "MRX84"^^xsd:string, "X-linked mental retardation 84"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112030"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 84"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112031 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300848"^^xsd:string ; oboInOwl:hasExactSynonym "MRX89"^^xsd:string, "X-linked mental retardation 89"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112031"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112032 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300851"^^xsd:string ; oboInOwl:hasExactSynonym "MRX92"^^xsd:string, "X-linked mental retardation 92"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112032"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 92"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112033 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300433"^^xsd:string ; oboInOwl:hasExactSynonym "MRX81"^^xsd:string, "X-linked mental retardation 81"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112033"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 81"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112034 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in FTSJ1 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:309549"^^xsd:string ; oboInOwl:hasExactSynonym "MRX44"^^xsd:string, "MRX9"^^xsd:string, "X-linked mental retardation 44"^^xsd:string, "X-linked mental retardation 9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112034"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112035 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300802"^^xsd:string ; oboInOwl:hasExactSynonym "MRX96"^^xsd:string, "X-linked mental retardation 96"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112035"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 96"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112036 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in USP27X on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300984"^^xsd:string ; oboInOwl:hasExactSynonym "MRX105"^^xsd:string, "X-linked mental retardation 105"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112036"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 105"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112037 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both HSD17B10 and HUWE1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300705"^^xsd:string ; oboInOwl:hasExactSynonym "MRX17"^^xsd:string, "MRX31"^^xsd:string, "X-linked mental retardation 17"^^xsd:string, "X-linked mental retardation 31"^^xsd:string, "Xp11.22 microduplication syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112037"^^xsd:string ; a owl:Class ; rdfs:label "chromosome Xp11.22 duplication syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112038 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in IQSEC2 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "GARD:13221"^^xsd:string, "OMIM:309530"^^xsd:string ; oboInOwl:hasExactSynonym "MRX1"^^xsd:string, "MRX18"^^xsd:string, "MRX78"^^xsd:string, "X-linked mental retardation 1"^^xsd:string, "X-linked mental retardation 1/78"^^xsd:string, "X-linked mental retardation 18"^^xsd:string, "X-linked mental retardation 78"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112038"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112039 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300454"^^xsd:string ; oboInOwl:hasExactSynonym "MRX77"^^xsd:string, "X-linked mental retardation 77"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112039"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112040 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in KIF4A on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300923"^^xsd:string ; oboInOwl:hasExactSynonym "MRX100"^^xsd:string, "X-linked mental retardation 100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112040"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 100"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112041 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in DLG3 on chromosome Xq13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300850"^^xsd:string ; oboInOwl:hasExactSynonym "MRX90"^^xsd:string, "X-linked mental retardation 90"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112041"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 90"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112042 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in RLIM on chromosome Xq13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300978"^^xsd:string ; oboInOwl:hasExactSynonym "MRX61"^^xsd:string, "TOKAS"^^xsd:string, "X-linked mental retardation 61"^^xsd:string, "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112042"^^xsd:string ; a owl:Class ; rdfs:label "Tonne-Kalscheuer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309 . obo:DOID_0112043 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300577"^^xsd:string ; oboInOwl:hasExactSynonym "MRX91"^^xsd:string, "X-linked mental retardation 91"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112043"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 91"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112044 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300912"^^xsd:string ; oboInOwl:hasExactSynonym "MRX98"^^xsd:string, "X-linked mental retardation 98"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112044"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 98"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112045 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in BRWD3 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300659"^^xsd:string ; oboInOwl:hasExactSynonym "MRX93"^^xsd:string, "X-linked mental retardation 93"^^xsd:string, "X-linked mental retardation with macrocephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112045"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 93"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112046 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in ZNF711 on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300803"^^xsd:string ; oboInOwl:hasExactSynonym "MRX65"^^xsd:string, "MRX97"^^xsd:string, "MRXZ"^^xsd:string, "X-linked mental retardation 65"^^xsd:string, "X-linked mental retardation 97"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112046"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 97"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112047 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300324"^^xsd:string ; oboInOwl:hasExactSynonym "MRX53"^^xsd:string, "X-linked mental retardation 53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112047"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112048 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in MID2 on chromosome Xq22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300928"^^xsd:string ; oboInOwl:hasExactSynonym "MRX101"^^xsd:string, "X-linked mental retardation 101"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112048"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 101"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112049 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300046"^^xsd:string ; oboInOwl:hasExactSynonym "MRX23"^^xsd:string, "X-linked mental retardation 23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112049"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112050 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in ACSL4 on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "GARD:5613"^^xsd:string, "OMIM:300387"^^xsd:string ; oboInOwl:hasExactSynonym "ACSL4-related intellectual disability"^^xsd:string, "MRX63"^^xsd:string, "MRX68"^^xsd:string, "X-linked mental retardation 63"^^xsd:string, "X-linked mental retardation 68"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112050"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 63"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112051 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in PAK3 on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300558"^^xsd:string ; oboInOwl:hasExactSynonym "MRX30"^^xsd:string, "MRX47"^^xsd:string, "X-linked mental retardation 30"^^xsd:string, "X-linked mental retardation 30/47"^^xsd:string, "X-linked mental retardation 47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112051"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112052 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300518"^^xsd:string ; oboInOwl:hasExactSynonym "MRX82"^^xsd:string, "X-linked mental retardation 82"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112052"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 82"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112053 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300852"^^xsd:string ; oboInOwl:hasExactSynonym "MRX88"^^xsd:string, "X-linked mental retardation 88"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112053"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112054 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301013"^^xsd:string ; oboInOwl:hasExactSynonym "MRX107"^^xsd:string, "X-linked mental retardation 107"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112054"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 107"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112055 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300436"^^xsd:string ; oboInOwl:hasExactSynonym "MRX46"^^xsd:string, "X-linked mental retardation 46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112055"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112056 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300957"^^xsd:string, "ORDO:457240"^^xsd:string ; oboInOwl:hasExactSynonym "MRX12"^^xsd:string, "MRX35"^^xsd:string, "X-linked mental retardation 12"^^xsd:string, "X-linked mental retardation 35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112056"^^xsd:string ; a owl:Class ; rdfs:label "X-linked intellectual disability-short stature-overweight syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112057 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300372"^^xsd:string ; oboInOwl:hasExactSynonym "MRX42"^^xsd:string, "X-linked mental retardation 42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112057"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776 . obo:DOID_0112058 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in GDI1 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300849"^^xsd:string ; oboInOwl:hasExactSynonym "MRX41"^^xsd:string, "MRX48"^^xsd:string, "X-linked mental retardation 41"^^xsd:string, "X-linked mental retardation 48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112058"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112059 obo:IAO_0000115 "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in RAB39B on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300271"^^xsd:string ; oboInOwl:hasExactSynonym "MRX72"^^xsd:string, "X-linked mental retardation 72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112059"^^xsd:string ; a owl:Class ; rdfs:label "non-syndromic X-linked intellectual disability 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050776, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112060 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in CLCN4 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300114"^^xsd:string ; oboInOwl:hasExactSynonym "MRX15"^^xsd:string, "MRX49"^^xsd:string, "MRXSRC"^^xsd:string, "X-linked mental retardation 15"^^xsd:string, "X-linked mental retardation 49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112060"^^xsd:string ; a owl:Class ; rdfs:label "Raynaud-Claes syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, obo:DOID_0080009, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112061 obo:IAO_0000115 "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in RAC2 on chromosome 22q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618986"^^xsd:string ; oboInOwl:hasExactSynonym "IMD73B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112061"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112062 obo:IAO_0000115 "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in RAC2 on chromosome 22q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618987"^^xsd:string ; oboInOwl:hasExactSynonym "IMD73C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112062"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112063 obo:IAO_0000115 "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in TLR7 on chromosome Xp22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301051"^^xsd:string ; oboInOwl:hasExactSynonym "IMD74"^^xsd:string, "TLR7 deficiency"^^xsd:string, "X-linked immunodeficiency 74,COVID-19-related"^^xsd:string, "respiratory insufficiency due to SARS-CoV-2 viral infection"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112063"^^xsd:string ; a owl:Class ; rdfs:label "X-Linked immunodeficiency 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112064 obo:IAO_0000115 "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564275"^^xsd:string, "OMIM:608203"^^xsd:string, "ORDO:183707"^^xsd:string, "SNOMEDCT_US_2021_03_01:723443003"^^xsd:string, "UMLS_CUI:C1842398"^^xsd:string ; oboInOwl:hasExactSynonym "IMD73A"^^xsd:string, "neutrophil immunodeficiency syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112064"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112065 obo:IAO_0000115 "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS252010"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112065"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060536 . obo:DOID_0112066 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in NDUFS2 on chromosome 1q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618228"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112066"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112067 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in NDUFB3 on chromosome 2q33.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618246"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN25"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112067"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 25"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112068 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS1 on chromosome 2q33.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618226"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112068"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112069 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA10 on chromosome 2q37.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618243"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN22"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112069"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112070 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF3 on chromosome 2p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618240"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112070"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112071 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMMDC1 on chromosome 3q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618251"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN31"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112071"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 31"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112072 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3."^^xsd:string ; oboInOwl:hasDbXref "MESH:C567006"^^xsd:string, "OMIM:611126"^^xsd:string, "ORDO:99901"^^xsd:string, "SNOMEDCT_US_2021_03_01:725046003"^^xsd:string, "UMLS_CUI:C1970173"^^xsd:string ; oboInOwl:hasExactSynonym "ACAD9 deficiency"^^xsd:string, "Acyl-CoA dehydrogenase 9 deficiency"^^xsd:string, "MC1DN20"^^xsd:string, "mitochondrial complex 1 deficiency due to ACAD9 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112072"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_0112073 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS6 on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618232"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112073"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112074 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS4 on chromosome 5q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:252010"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112074"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112075 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF2 on chromosome 5q12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618233"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN10"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112075"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112076 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA2 on chromosome 5q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618235"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN13"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112076"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112077 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF4 on chromosome 6q16.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618237"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN15"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112077"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 15"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112078 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF6 on chromosome 8q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618239"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN17"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112078"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 17"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112079 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB9 on chromosome 8q24.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618245"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN24"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112079"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 24"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112080 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB8 on chromosome 10q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618252"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN32"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112080"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 32"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112081 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS3 on chromosome 11p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618230"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112081"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112082 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618225"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112082"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112083 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS8 on chromosome 11q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618222"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112083"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112084 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126B on chromosome 11q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618250"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112084"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112085 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in FOXRED1 on chromosome 11q24.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618241"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112085"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112086 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA9 on chromosome 12p13.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618247"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN26"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112086"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 26"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112087 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA12 on chromosome 12q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618244"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112087"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112088 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618242"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112088"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112089 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF1 on chromosome 15q15.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618234"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112089"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112090 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MTFMT on chromosome 15q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618248"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN27"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112090"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 27"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112091 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF8 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618776"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN34"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112091"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 34"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112092 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV2 on chromosome 18p11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618229"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112092"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112093 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS7 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618224"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112093"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112094 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA11 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618236"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN14"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112094"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 14"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112095 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA13 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618249"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN28"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112095"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 28"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112096 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF5 on chromosome 20p12.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618238"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN16"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112096"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 16"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112097 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA6 on chromosome 22q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618253"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN33"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112097"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 33"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112098 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFB11 on chromosome Xp11.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301021"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112098"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112099 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFA1 on chromosome Xq24."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301020"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN12"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112099"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0112065, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112100 obo:IAO_0000115 "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome."^^xsd:string ; oboInOwl:hasExactSynonym "MC1DM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112100"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial type mitochondrial complex I deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0060536, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000949 ] . obo:DOID_0112101 obo:IAO_0000115 "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome."^^xsd:string ; oboInOwl:hasDbXref "OMIM:500014"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DM1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112101"^^xsd:string ; a owl:Class ; rdfs:label "mitochondrial type mitochondrial complex I deficiency 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0112100 . obo:DOID_0112102 obo:IAO_0000115 "A Sotos syndrome that has_material_basis_in heterozygous mutation in NFIX on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614753"^^xsd:string ; oboInOwl:hasExactSynonym "SOTOS2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112102"^^xsd:string ; a owl:Class ; rdfs:label "Sotos syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14748, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112103 obo:IAO_0000115 "A Sotos syndrome that has_material_basis_in heterozygous mutation in NSD1 or deletion in the chromosome region 5q35 that includes NSD1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:117550"^^xsd:string ; oboInOwl:hasExactSynonym "SOTOS1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112103"^^xsd:string ; a owl:Class ; rdfs:label "Sotos syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_14748, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112104 obo:IAO_0000115 "A Sotos syndrome that has_material_basis_in homozygous mutation in APC2 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617169"^^xsd:string ; oboInOwl:hasExactSynonym "SOTOS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112104"^^xsd:string ; a owl:Class ; rdfs:label "Sotos syndrome 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14748, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112105 obo:IAO_0000115 "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in ATP6AP2 on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300911"^^xsd:string, "ORDO:363654"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked Parkinsonism with spasticity"^^xsd:string, "XPDS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112105"^^xsd:string ; a owl:Class ; rdfs:label "X-linked parkinsonism-spasticity syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_480, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112106 obo:IAO_0000115 "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in HDAC6 on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300863"^^xsd:string, "ORDO:163966"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked dominant chondrodysplasia, Chassaing-Lacombe type"^^xsd:string, "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112106"^^xsd:string ; a owl:Class ; rdfs:label "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112107 obo:IAO_0000115 "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10731"^^xsd:string, "MESH:C564038"^^xsd:string, "OMIM:300842"^^xsd:string, "ORDO:59306"^^xsd:string, "SNOMEDCT_US_2021_03_01:234411007"^^xsd:string, "UMLS_CUI:C0398568"^^xsd:string ; oboInOwl:hasExactSynonym "MLS"^^xsd:string, "McLeod neuroacanthocytosis syndrome"^^xsd:string, "McLeod syndrome with or without chronic granulomatous disease"^^xsd:string, "McLeod type neuroacanthocytosis"^^xsd:string, "X-linked McLeod syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112107"^^xsd:string ; a owl:Class ; rdfs:label "McLeod syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_0050765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112108 obo:IAO_0000115 "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in SVIL on chromosome 10p11.23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619040"^^xsd:string ; oboInOwl:hasExactSynonym "MFM10"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112108"^^xsd:string ; a owl:Class ; rdfs:label "myofibrillar myopathy 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080307, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112109 obo:IAO_0000115 "A spermatogenic failure characterized by high prevelance of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in CEP112 on chromosome 17q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619044"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF44"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112109"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 44"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112110 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MIEF2 on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619024"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD49"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112110"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112111 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS25 on chromosome 3p25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619025"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112111"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112112 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619012"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112112"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112113 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL12 on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618951"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112113"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112114 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS28 on chromosome 8q21.13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618958"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112114"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112115 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS23 on chromosome 17q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618952"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112115"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112116 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMM22 on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618851"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD43"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112116"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 43"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112117 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in QRSL1 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618835"^^xsd:string, "ORDO:570491"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD40"^^xsd:string, "QRSL1-related COXPD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112117"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 40"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112118 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATC on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618839"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD42"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112118"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 42"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112119 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GATB on chromosome 4q31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618838"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD41"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112119"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 41"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112120 obo:IAO_0000115 "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in SHOX or SHOXY on chromosomes Xp22.33 and Yp11.2, respectively."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300582"^^xsd:string, "ORDO:314795"^^xsd:string ; oboInOwl:hasExactSynonym "idiopathic familial short stature"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112120"^^xsd:string ; a owl:Class ; rdfs:label "SHOX-related short stature"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0112121 obo:IAO_0000115 "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in AVPR2 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564491"^^xsd:string, "OMIM:300539"^^xsd:string, "ORDO:93606"^^xsd:string, "SNOMEDCT_US_2021_03_01:723440000"^^xsd:string, "UMLS_CUI:C1845202"^^xsd:string ; oboInOwl:hasExactSynonym "NSIAD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112121"^^xsd:string ; a owl:Class ; rdfs:label "nephrogenic syndrome of inappropriate antidiuresis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112122 obo:IAO_0000115 "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564505"^^xsd:string, "OMIM:300491"^^xsd:string, "ORDO:85294"^^xsd:string, "UMLS_CUI:C1845343"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked epilepsy-learning disabilities-behavior disorders syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112122"^^xsd:string ; a owl:Class ; rdfs:label "X-linked epilepsy with variable learning disabilities and behavior disorders"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_1826, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112123 obo:IAO_0000115 "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in BCAP31 on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:12472"^^xsd:string, "OMIM:300475"^^xsd:string, "ORDO:369939"^^xsd:string ; oboInOwl:hasExactSynonym "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"^^xsd:string, "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112123"^^xsd:string ; a owl:Class ; rdfs:label "deafness, dystonia, and cerebral hypomyelination"^^xsd:string ; rdfs:subClassOf obo:DOID_0080009, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000146 ] . obo:DOID_0112124 obo:IAO_0000115 "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in RPGR on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300455"^^xsd:string, "ORDO:247522"^^xsd:string ; oboInOwl:hasExactSynonym "primary ciliary dyskinesia-retinitis pigmentosa syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112124"^^xsd:string ; a owl:Class ; rdfs:label "X-linked retinitis pigmentosa and sinorespiratory infections"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112125 obo:IAO_0000115 "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in ATRX on chromosome Xq21.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C563023"^^xsd:string, "OMIM:300448"^^xsd:string, "ORDO:231401"^^xsd:string, "SNOMEDCT_US_2021_03_01:307343001"^^xsd:string, "UMLS_CUI:C0585216"^^xsd:string ; oboInOwl:hasExactSynonym "ATMDS"^^xsd:string, "acquired HbH disease"^^xsd:string, "acquired hemoglobin H disease"^^xsd:string, "alpha-thalassemia-myelodysplastic syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112125"^^xsd:string ; a owl:Class ; rdfs:label "alpha-thalassemia myelodysplasia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112126 obo:IAO_0000115 "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in SHROOM4 on chromosome Xp11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300434"^^xsd:string, "ORDO:85288"^^xsd:string ; oboInOwl:hasExactSynonym "SDSX"^^xsd:string, "Stocco dos Santos X-linked mental retardation syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112126"^^xsd:string ; a owl:Class ; rdfs:label "Stocco Dos Santos type X-linked intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0060309, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112127 obo:IAO_0000115 "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300323"^^xsd:string, "ORDO:79233"^^xsd:string ; oboInOwl:hasExactSynonym "HPRT deficiency, grade I"^^xsd:string, "HPRT partial deficiency"^^xsd:string, "HPRT-related gout"^^xsd:string, "HPRT-related hyperuricemia"^^xsd:string, "HPRT1 partial deficiency"^^xsd:string, "Kelley-Seegmiller syndrome"^^xsd:string, "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency"^^xsd:string, "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I"^^xsd:string, "hypoxanthine guanine phosphoribosyltransferase partial deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112127"^^xsd:string ; a owl:Class ; rdfs:label "HRPT-related hyperuricemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1920, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112128 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23."^^xsd:string ; oboInOwl:hasDbXref "GARD:3981"^^xsd:string, "MESH:C564539"^^xsd:string, "OMIM:300299"^^xsd:string, "ORDO:86788"^^xsd:string, "SNOMEDCT_US_2021_03_01:718882006"^^xsd:string, "UMLS_CUI:C1845987"^^xsd:string ; oboInOwl:hasExactSynonym "SCNX"^^xsd:string, "XLN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112128"^^xsd:string ; a owl:Class ; rdfs:label "X-linked severe congenital neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0080012, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112129 obo:IAO_0000115 "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617014"^^xsd:string, "ORDO:420702"^^xsd:string ; oboInOwl:hasExactSynonym "SCN7"^^xsd:string, "autosomal recessive severe congenital neutropenia due to CSF3R deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112129"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 7"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112130 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene."^^xsd:string ; oboInOwl:hasDbXref "GARD:9558"^^xsd:string, "ORDO:486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112130"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant severe congenital neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112131 obo:IAO_0000115 "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in GFI1 on chromosome 1p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613107"^^xsd:string ; oboInOwl:hasExactSynonym "SCN2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112131"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0112130, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112132 obo:IAO_0000115 "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615285"^^xsd:string, "ORDO:369852"^^xsd:string ; oboInOwl:hasExactSynonym "SCN5"^^xsd:string, "VPS45 deficiency"^^xsd:string, "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"^^xsd:string, "congenital neutropenia-myelofibrosis-nephromegaly syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112132"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112133 obo:IAO_0000115 "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:302"^^xsd:string, "OMIM:610738"^^xsd:string, "ORDO:99749"^^xsd:string ; oboInOwl:hasExactSynonym "Kostmann disease"^^xsd:string, "Kostmann syndrome"^^xsd:string, "SCN3"^^xsd:string, "infantile agranulocytosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112133"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112134 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616022"^^xsd:string, "ORDO:423384"^^xsd:string ; oboInOwl:hasExactSynonym "SCN6"^^xsd:string, "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112134"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112135 obo:IAO_0000115 "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in SRP54 on chromosome 14q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618752"^^xsd:string ; oboInOwl:hasExactSynonym "SCN8"^^xsd:string, "SDSL"^^xsd:string, "Shwachman-Diamond syndrome-like"^^xsd:string, "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112135"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0112130, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112136 obo:IAO_0000115 "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612541"^^xsd:string, "ORDO:331176"^^xsd:string ; oboInOwl:hasExactSynonym "Dursun syndrome"^^xsd:string, "SCN4"^^xsd:string, "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"^^xsd:string, "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112136"^^xsd:string ; a owl:Class ; rdfs:label "severe congenital neutropenia 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050590, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_0112137 obo:IAO_0000115 "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619057"^^xsd:string ; oboInOwl:hasExactSynonym "COXPD51"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112137"^^xsd:string ; a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060286, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112138 obo:IAO_0000115 "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619028"^^xsd:string ; oboInOwl:hasExactSynonym "COQ10D9"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112138"^^xsd:string ; a owl:Class ; rdfs:label "primary coenzyme Q10 deficiency 9"^^xsd:string ; rdfs:subClassOf obo:DOID_0050730, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112139 obo:IAO_0000115 "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFB10 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619003"^^xsd:string ; oboInOwl:hasExactSynonym "MC1DN35"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112139"^^xsd:string ; a owl:Class ; rdfs:label "nuclear type mitochondrial complex I deficiency 35"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060536, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112140 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618173"^^xsd:string ; oboInOwl:hasExactSynonym "RP83"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112140"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 83"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112141 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618220"^^xsd:string ; oboInOwl:hasExactSynonym "RP84"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112141"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 84"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112142 obo:IAO_0000115 "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618345"^^xsd:string ; oboInOwl:hasExactSynonym "RP85"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112142"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 85"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112143 obo:IAO_0000115 "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in KIAA1549 on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618613"^^xsd:string ; oboInOwl:hasExactSynonym "RP86"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112143"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 86"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112144 obo:IAO_0000115 "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in RPE65 on chromosome 1p31.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618697"^^xsd:string ; oboInOwl:hasExactSynonym "RP87"^^xsd:string, "retinitis pigmentosa 87 with choroidal involvement"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112144"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 87"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112145 obo:IAO_0000115 "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in RP1L1 on chromosome 8p23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618826"^^xsd:string ; oboInOwl:hasExactSynonym "RP88"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112145"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112146 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in KIF3B on chromosome 20q11.21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618955"^^xsd:string ; oboInOwl:hasExactSynonym "RP89"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112146"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112147 obo:IAO_0000115 "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in IDH3A on chromosome 15q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619007"^^xsd:string ; oboInOwl:hasExactSynonym "RP90"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112147"^^xsd:string ; a owl:Class ; rdfs:label "retinitis pigmentosa 90"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_10584, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112148 obo:IAO_0000115 "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in FHL1 on chromosome Xq26.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300280"^^xsd:string ; oboInOwl:hasExactSynonym "FCMSU"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112148"^^xsd:string ; a owl:Class ; rdfs:label "Uruguay faciocardiomusculoskeletal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112149 obo:IAO_0000115 "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in FLNA on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564554"^^xsd:string, "OMIM:300244"^^xsd:string, "ORDO:88630"^^xsd:string, "UMLS_CUI:C1846129"^^xsd:string ; oboInOwl:hasExactSynonym "ODPD"^^xsd:string, "ODPF syndrome"^^xsd:string, "TOD"^^xsd:string, "TODPD"^^xsd:string, "digital osseous dysplasia with facial pigmentary defects and multiple frenula"^^xsd:string, "terminal osseous dysplasia-pigmentary defects syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112149"^^xsd:string ; a owl:Class ; rdfs:label "terminal osseous dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112150 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28."^^xsd:string ; oboInOwl:hasDbXref "GARD:4979"^^xsd:string, "MESH:C564714"^^xsd:string, "OMIM:300106"^^xsd:string, "ORDO:93349"^^xsd:string, "SNOMEDCT_US_2021_03_01:770603000"^^xsd:string, "UMLS_CUI:C1848097"^^xsd:string ; oboInOwl:hasExactSynonym "SEMD X-linked"^^xsd:string, "SEMDX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112150"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spondyloepimetaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112151 obo:IAO_0000115 "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4528"^^xsd:string, "OMIM:300004"^^xsd:string, "ORDO:2508"^^xsd:string ; oboInOwl:hasExactSynonym "ACC with abnormal genitalia"^^xsd:string, "Proud syndrome"^^xsd:string, "Proud-Levine-Carpenter syndrome"^^xsd:string, "corpus callosum agenesis with abnormal genitalia"^^xsd:string, "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112151"^^xsd:string ; a owl:Class ; rdfs:label "corpus callosum agenesis-abnormal genitalia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050735, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0001257 ] . obo:DOID_0112152 obo:IAO_0000115 "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in PIGL on chromosome 17p11.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:310"^^xsd:string, "MESH:C536729"^^xsd:string, "OMIM:280000"^^xsd:string, "ORDO:3474"^^xsd:string, "SNOMEDCT_US_2021_03_01:720639008"^^xsd:string, "UMLS_CUI:C1848392"^^xsd:string ; oboInOwl:hasExactSynonym "PIGL-CDG"^^xsd:string, "Zunich neuroectodermal syndrome"^^xsd:string, "Zunich-Kaye syndrome"^^xsd:string, "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome"^^xsd:string, "congenital disorder of glycosylation due to PIGL deficiency"^^xsd:string, "neuroectodermal dysplasia, CHIME type"^^xsd:string, "neuroectodermal syndrome, Zunich type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112152"^^xsd:string ; a owl:Class ; rdfs:label "CHIME syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112153 obo:IAO_0000115 "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619071"^^xsd:string ; oboInOwl:hasExactSynonym "HLD20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112153"^^xsd:string ; a owl:Class ; rdfs:label "hypomyelinating leukodystrophy 20"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0060786, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112154 obo:IAO_0000115 "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in CARD8 on chromosome 19q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619079"^^xsd:string ; oboInOwl:hasExactSynonym "IBD30"^^xsd:string, "inflammatory bowel disease (Crohn disease) 30"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112154"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 30"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112155 obo:IAO_0000115 "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in INAVA on chromosome 1q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618077"^^xsd:string ; oboInOwl:hasExactSynonym "IBD29"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112155"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory bowel disease 29"^^xsd:string ; rdfs:subClassOf obo:DOID_0050589, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112156 obo:IAO_0000115 "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300835"^^xsd:string, "ORDO:363727"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked anemia with/without neutropenia and/or platelet abnormalities"^^xsd:string, "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112156"^^xsd:string ; a owl:Class ; rdfs:label "X-linked dyserythropoietic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_2355, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112157 obo:IAO_0000115 "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300834"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112157"^^xsd:string ; a owl:Class ; rdfs:label "X-linked atrophic macular degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_4448, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112158 obo:IAO_0000115 "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration."^^xsd:string ; oboInOwl:hasDbXref "GARD:8276"^^xsd:string, "MESH:C535992"^^xsd:string, "NCI:C84666"^^xsd:string, "OMIM:278800"^^xsd:string, "ORDO:1569"^^xsd:string, "SNOMEDCT_US_2021_03_01:254201008"^^xsd:string, "UMLS_CUI:C0265201"^^xsd:string ; oboInOwl:hasExactSynonym "xeroderma pigmentosum with neurologic manifestation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112158"^^xsd:string ; a owl:Class ; rdfs:label "De Sanctis-Cacchione syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050427 . obo:DOID_0112159 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of SLC12A2 on chromosome 5q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619081"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA78"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112159"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 78"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112160 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in SCD5 on chromosome 4q21.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619086"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA79"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112160"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112161 obo:IAO_0000115 "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in MAPK1 on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619087"^^xsd:string ; oboInOwl:hasExactSynonym "NS13"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112161"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 13"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112162 obo:IAO_0000115 "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in CLDN9 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619093"^^xsd:string ; oboInOwl:hasExactSynonym "DFNB116"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112162"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive nonsyndromic deafness 116"^^xsd:string ; rdfs:subClassOf obo:DOID_0050565 . obo:DOID_0112163 obo:IAO_0000115 "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in DNAH2 on chromosome 17p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619094"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF45"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112163"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 45"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112164 obo:IAO_0000115 "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in DNAH8 on chromosome 6p21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619095"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF46"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112164"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 46"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112165 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in PDE1C on chromosome 7p14.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618140"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA74"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112165"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112166 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in TRRAP on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618778"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA75"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112166"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112167 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in PLS1 on chromosome 3q23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618787"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA76"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112167"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112168 obo:IAO_0000115 "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in ABCC1 on chromosome 16p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618915"^^xsd:string ; oboInOwl:hasExactSynonym "DFNA77"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112168"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant nonsyndromic deafness 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050564 . obo:DOID_0112169 obo:IAO_0000115 "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in MRAS on chromosome 3q22.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618499"^^xsd:string ; oboInOwl:hasExactSynonym "NS11"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112169"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 11"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112170 obo:IAO_0000115 "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in RRAS2 on chromosome 11p15.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618624"^^xsd:string ; oboInOwl:hasExactSynonym "NS12"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112170"^^xsd:string ; a owl:Class ; rdfs:label "Noonan syndrome 12"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112171 obo:IAO_0000115 "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:273"^^xsd:string, "MESH:C536750"^^xsd:string, "OMIM:278250"^^xsd:string, "ORDO:2834"^^xsd:string, "SNOMEDCT_US_2021_03_01:238875009"^^xsd:string, "UMLS_CUI:C0406587"^^xsd:string ; oboInOwl:hasExactSynonym "WSS"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112171"^^xsd:string ; a owl:Class ; rdfs:label "wrinkly skin syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112172 obo:IAO_0000115 "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation."^^xsd:string ; oboInOwl:hasDbXref "ORDO:98434"^^xsd:string, "SNOMEDCT_US_2021_03_01:724356003"^^xsd:string, "UMLS_CUI:C4510617"^^xsd:string ; oboInOwl:hasExactSynonym "VKCFD"^^xsd:string, "hereditary combined deficiency of factors II, VII, IX and X"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112172"^^xsd:string ; a owl:Class ; rdfs:label "hereditary combined deficiency of vitamin K-dependent clotting factors"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_0112173 obo:IAO_0000115 "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in GGCX on chromosome 2p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564741"^^xsd:string, "OMIM:277450"^^xsd:string, "UMLS_CUI:C1848534"^^xsd:string ; oboInOwl:hasExactSynonym "VKCFD1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112173"^^xsd:string ; a owl:Class ; rdfs:label "combined deficiency of vitamin K-dependent clotting factors 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112172, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112174 obo:IAO_0000115 "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in VKORC1 on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564393"^^xsd:string, "OMIM:607473"^^xsd:string ; oboInOwl:hasExactSynonym "VKCFD2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112174"^^xsd:string ; a owl:Class ; rdfs:label "combined deficiency of vitamin K-dependent clotting factors 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112172, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112175 obo:IAO_0000115 "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in DZIP1 on chromosome 13q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619102"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF47"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112175"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 47"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112176 obo:IAO_0000115 "An azoospermia characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619108"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF48"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112176"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 48"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112177 obo:IAO_0000115 "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype."^^xsd:string ; oboInOwl:hasDbXref "ORDO:3109"^^xsd:string ; oboInOwl:hasExactSynonym "MRKH syndrome"^^xsd:string, "Rokitansky syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112177"^^xsd:string ; a owl:Class ; rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112178 obo:IAO_0000115 "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype."^^xsd:string ; oboInOwl:hasDbXref "OMIM:277000"^^xsd:string, "ORDO:247775"^^xsd:string ; oboInOwl:hasExactSynonym "MRKH syndrome type 1"^^xsd:string, "Rokitansky sequence"^^xsd:string, "congenital absence of uterus and vagina"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112178"^^xsd:string ; a owl:Class ; rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0112177 . obo:DOID_0112179 obo:IAO_0000115 "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects."^^xsd:string ; oboInOwl:hasDbXref "OMIM:601076"^^xsd:string, "ORDO:2578"^^xsd:string ; oboInOwl:hasExactSynonym "MRKH syndrome type 2"^^xsd:string, "MURCS"^^xsd:string, "MURCS association"^^xsd:string, "atypical MRKH syndrome"^^xsd:string, "mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia"^^xsd:string, "mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112179"^^xsd:string ; a owl:Class ; rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0112177 . obo:DOID_0112180 obo:IAO_0000115 "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8539"^^xsd:string, "MESH:C536479"^^xsd:string, "OMIM:276880"^^xsd:string, "ORDO:210128"^^xsd:string, "SNOMEDCT_US_2021_03_01:60952007"^^xsd:string, "UMLS_CUI:C0268514"^^xsd:string ; oboInOwl:hasExactSynonym "UROCD"^^xsd:string, "encephalopathy due to urocanase deficiency"^^xsd:string, "high urine urocanic acid levels"^^xsd:string, "urocanate hydratase deficiency"^^xsd:string, "urocanic aciduria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112180"^^xsd:string ; a owl:Class ; rdfs:label "urocanase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9265, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112181 obo:IAO_0000115 "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in WNT7A on chromosome 3p25.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9212"^^xsd:string, "OMIM:276820"^^xsd:string, "ORDO:2879"^^xsd:string ; oboInOwl:hasExactSynonym "AARRS"^^xsd:string, "Al Awadi-Raas-Rothschild syndrome"^^xsd:string, "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome"^^xsd:string, "LPHAS"^^xsd:string, "Schinzel phocomelia syndrome"^^xsd:string, "absence of ulna and fibula with severe limb deficiency"^^xsd:string, "aplasia/hypoplasia of limbs and pelvis"^^xsd:string, "congenital absence of ulna and fibula"^^xsd:string, "limb/pelvis-hypoplasia/aplasia syndrome"^^xsd:string, "severe limb deficit"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112181"^^xsd:string ; a owl:Class ; rdfs:label "Schinzel type phocomelia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112182 obo:IAO_0000115 "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively."^^xsd:string ; oboInOwl:hasDbXref "OMIM:276300"^^xsd:string, "ORDO:252202"^^xsd:string ; oboInOwl:hasExactSynonym "BTP1 syndrome"^^xsd:string, "BTPS1"^^xsd:string, "CMMR-D syndrome"^^xsd:string, "CMMRDS"^^xsd:string, "MMR deficiency"^^xsd:string, "Turcot syndrome"^^xsd:string, "brain tumor-polyposis syndrome 1"^^xsd:string, "childhood cancer syndrome"^^xsd:string, "constitutional mismatch repair deficiency syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112182"^^xsd:string ; a owl:Class ; rdfs:label "mismatch repair cancer syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112183 obo:IAO_0000115 "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis."^^xsd:string ; oboInOwl:hasDbXref "ORDO:95716"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112183"^^xsd:string ; a owl:Class ; rdfs:label "familial thyroid dyshormonogenesis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050328 . obo:DOID_0112184 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274900"^^xsd:string ; oboInOwl:hasExactSynonym "TDH5"^^xsd:string, "genetic defect in thyroid hormonogenesis 5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112184"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112185 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274400"^^xsd:string ; oboInOwl:hasExactSynonym "TDH1"^^xsd:string, "genetic defect in thyroid hormonogenesis 1"^^xsd:string, "iodide accumulation, transport, or trapping defect"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112185"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112186 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274500"^^xsd:string ; oboInOwl:hasExactSynonym "TDH2A"^^xsd:string, "genetic defect in thyroid hormonogenesis 2A"^^xsd:string, "iodide peroxidase deficiency"^^xsd:string, "thyroid peroxidase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112186"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 2A"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112187 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274700"^^xsd:string ; oboInOwl:hasExactSynonym "TDH3"^^xsd:string, "genetic defect in thyroid hormonogenesis 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112187"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112188 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:274800"^^xsd:string ; oboInOwl:hasExactSynonym "TDH4"^^xsd:string, "deiodinase deficiency"^^xsd:string, "genetic defect in thyroid hormonogenesis 4"^^xsd:string, "iodotyrosine dehalogenase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112188"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112189 obo:IAO_0000115 "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607200"^^xsd:string ; oboInOwl:hasExactSynonym "TDH6"^^xsd:string, "genetic defect in thyroid hormonogenesis 6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112189"^^xsd:string ; a owl:Class ; rdfs:label "thyroid dyshormonogenesis 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112183, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112190 obo:IAO_0000115 "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in MYLPF on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619110"^^xsd:string ; oboInOwl:hasExactSynonym "DA1C"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112190"^^xsd:string ; a owl:Class ; rdfs:label "distal arthrogryposis type 1C"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_0111596, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112191 obo:IAO_0000115 "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:386"^^xsd:string, "ORDO:3301"^^xsd:string ; oboInOwl:hasExactSynonym "TETAMS"^^xsd:string, "tetra-amelia syndrome"^^xsd:string, "tetraamelia-multiple malformations syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112191"^^xsd:string ; a owl:Class ; rdfs:label "tetraamelia syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112192 obo:IAO_0000115 "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32."^^xsd:string ; oboInOwl:hasDbXref "GARD:5148"^^xsd:string, "OMIM:273395"^^xsd:string ; oboInOwl:hasExactSynonym "TETAMS1"^^xsd:string, "tetra-amelia syndrome 1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112192"^^xsd:string ; a owl:Class ; rdfs:label "tetraamelia syndrome 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112193 obo:IAO_0000115 "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5147"^^xsd:string, "OMIM:618021"^^xsd:string ; oboInOwl:hasExactSynonym "TETAMS2"^^xsd:string, "tetra-amelia with pulmonary hypoplasia"^^xsd:string, "tetraamelia with pulmonary hypoplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112193"^^xsd:string ; a owl:Class ; rdfs:label "tetraamelia syndrome 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112191, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112194 obo:IAO_0000115 "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in CKAP2L on chromosome 2q14.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:62"^^xsd:string, "OMIM:272440"^^xsd:string, "ORDO:3255"^^xsd:string ; oboInOwl:hasExactSynonym "Scott craniodigital syndrome with mental retardation"^^xsd:string, "type 1 syndactyly-microcephaly-intellectual disability syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112194"^^xsd:string ; a owl:Class ; rdfs:label "Filippi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112195 obo:IAO_0000115 "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:271700"^^xsd:string, "ORDO:1856"^^xsd:string ; oboInOwl:hasExactSynonym "spondyloperipheral dysplasia-short ulna syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112195"^^xsd:string ; a owl:Class ; rdfs:label "spondyloperipheral dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112196 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10616"^^xsd:string, "MESH:C564794"^^xsd:string, "OMIM:271665"^^xsd:string, "ORDO:93358"^^xsd:string, "UMLS_CUI:C1849011"^^xsd:string ; oboInOwl:hasExactSynonym "SMED short limb-abnormal calcification type"^^xsd:string, "SMED short limb-hand type"^^xsd:string, "SMED type 2"^^xsd:string, "SMED, type II"^^xsd:string, "SMED-SL"^^xsd:string, "SMED-SL/AC"^^xsd:string, "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"^^xsd:string, "spondylometaepiphyseal dysplasia short limb-hand type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112196"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaepiphyseal dysplasia, short limb-hand type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080027, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112197 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility."^^xsd:string ; oboInOwl:hasDbXref "GARD:4982"^^xsd:string, "OMIM:PS271640"^^xsd:string, "ORDO:93359"^^xsd:string ; oboInOwl:hasExactSynonym "SEMDJL"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112197"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity"^^xsd:string ; rdfs:subClassOf obo:DOID_0080027 . obo:DOID_0112198 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:271640"^^xsd:string ; oboInOwl:hasExactSynonym "SEMDJL1"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112198"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112199 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:603546"^^xsd:string, "ORDO:93360"^^xsd:string ; oboInOwl:hasExactSynonym "SEMD-MD"^^xsd:string, "SEMDJL2"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxity type 2"^^xsd:string, "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"^^xsd:string, "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112199"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112200 obo:IAO_0000115 "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in EXOC6B on chromosome 2p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618395"^^xsd:string ; oboInOwl:hasExactSynonym "SEMDJL3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112200"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112197, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112201 obo:IAO_0000115 "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619131"^^xsd:string ; oboInOwl:hasExactSynonym "OI21"^^xsd:string, "osteogenesis imperfecta type XXI"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112201"^^xsd:string ; a owl:Class ; rdfs:label "osteogenesis imperfecta type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_12347, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112202 obo:IAO_0000115 "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood."^^xsd:string ; oboInOwl:hasDbXref "OMIM:PS308350"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112202"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050701 . obo:DOID_0112203 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in CUX2 on chromosome 12q24.11-q24.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618141"^^xsd:string ; oboInOwl:hasExactSynonym "DEE67"^^xsd:string, "early infantile epileptic encephalopathy 67"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112203"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 67"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112204 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in TRAK1 on chromosome 3p22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618201"^^xsd:string ; oboInOwl:hasExactSynonym "DEE68"^^xsd:string, "early infantile epileptic encephalopathy 68"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112204"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 68"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112205 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in CACNA1E on chromosome 1q25.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618285"^^xsd:string ; oboInOwl:hasExactSynonym "DEE69"^^xsd:string, "early infantile epileptic encephalopathy 69"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112205"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 69"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112206 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in PHACTR1 on chromosome 6p24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618298"^^xsd:string ; oboInOwl:hasExactSynonym "DEE70"^^xsd:string, "early infantile epileptic encephalopathy 70"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112206"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 70"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112207 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618328"^^xsd:string ; oboInOwl:hasExactSynonym "DEE71"^^xsd:string, "early infantile epileptic encephalopathy 71"^^xsd:string, "glutaminase deficiency with neonatal epileptic encephalopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112207"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 71"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112208 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in NEUROD2 on chromosome 17q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618374"^^xsd:string ; oboInOwl:hasExactSynonym "DEE72"^^xsd:string, "early infantile epileptic encephalopathy 72"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112208"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 72"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112209 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618379"^^xsd:string ; oboInOwl:hasExactSynonym "DEE73"^^xsd:string, "early infantile epileptic encephalopathy 73"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112209"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 73"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112210 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618396"^^xsd:string ; oboInOwl:hasExactSynonym "DEE74"^^xsd:string, "early infantile epileptic encephalopathy 74"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112210"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 74"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112211 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618437"^^xsd:string ; oboInOwl:hasExactSynonym "DEE75"^^xsd:string, "early infantile epileptic encephalopathy 75"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112211"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 75"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112212 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618468"^^xsd:string ; oboInOwl:hasExactSynonym "DECAM"^^xsd:string, "DEE76"^^xsd:string, "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination"^^xsd:string, "early infantile epileptic encephalopathy 76"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112212"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 76"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112213 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618548"^^xsd:string ; oboInOwl:hasExactSynonym "DEE77"^^xsd:string, "GPIBD19"^^xsd:string, "MCAHS4"^^xsd:string, "early infantile epileptic encephalopathy 77"^^xsd:string, "glycosylphosphatidylinositol biosynthesis defect 19"^^xsd:string, "multiple congenital anomalies-hypotonia-seizures syndrome-4"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112213"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 77"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112214 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in GABRA2 on chromosome 4p12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618557"^^xsd:string ; oboInOwl:hasExactSynonym "DEE78"^^xsd:string, "early infantile epileptic encephalopathy 78"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112214"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 78"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112215 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in GABRA5 on chromosome 15q12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618559"^^xsd:string ; oboInOwl:hasExactSynonym "DEE79"^^xsd:string, "early infantile epileptic encephalopathy 79"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112215"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112216 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618580"^^xsd:string ; oboInOwl:hasExactSynonym "DEE80"^^xsd:string, "GPIBD20"^^xsd:string, "early infantile epileptic encephalopathy 80"^^xsd:string, "glycosylphosphatidylinositol biosynthesis defect 20"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112216"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 80"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112217 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DMXL2 on chromosome 15q21.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618663"^^xsd:string ; oboInOwl:hasExactSynonym "DEE81"^^xsd:string, "early infantile epileptic encephalopathy 81"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112217"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 81"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112218 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618744"^^xsd:string ; oboInOwl:hasExactSynonym "DEE83"^^xsd:string, "early infantile epileptic encephalopathy 83"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112218"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 83"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112219 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618792"^^xsd:string ; oboInOwl:hasExactSynonym "DEE84"^^xsd:string, "Jamuar syndrome"^^xsd:string, "early infantile epileptic encephalopathy 84"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112219"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 84"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112220 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in DALRD2 on chromosome 3p21.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618910"^^xsd:string ; oboInOwl:hasExactSynonym "DEE86"^^xsd:string, "early infantile epileptic encephalopathy 86"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112220"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 86"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112221 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in CDK19 on chromosome 6q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618916"^^xsd:string ; oboInOwl:hasExactSynonym "DEE87"^^xsd:string, "early infantile epileptic encephalopathy 87"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112221"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 87"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112222 obo:IAO_0000115 "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in MDH1 on chromosome 2p15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618959"^^xsd:string ; oboInOwl:hasExactSynonym "DEE88"^^xsd:string, "early infantile epileptic encephalopathy 88"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112222"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 88"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112223 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619124"^^xsd:string ; oboInOwl:hasExactSynonym "DEE89"^^xsd:string, "early infantile epileptic encephalopathy 89"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112223"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 89"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112224 obo:IAO_0000115 "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in IMPAD1 on chromosome 8q12."^^xsd:string ; oboInOwl:hasDbXref "GARD:11009"^^xsd:string, "OMIM:614078"^^xsd:string, "ORDO:280586"^^xsd:string ; oboInOwl:hasExactSynonym "gPAPP deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112224"^^xsd:string ; a owl:Class ; rdfs:label "chondrodysplasia with joint dislocations gPAPP type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112225 obo:IAO_0000115 "An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in GCH1 on chromosome 14q22.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:233910"^^xsd:string, "ORDO:2102"^^xsd:string ; oboInOwl:hasExactSynonym "GTP cyclohydrolase 1 deficiency"^^xsd:string, "HPABH4B"^^xsd:string, "tetrahydrobiopterin-deficient hyperphenylalaninemia B"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112225"^^xsd:string ; a owl:Class ; rdfs:label "BH4-deficient hyperphenylalaninemia B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112226 obo:IAO_0000115 "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in NR2F1 on chromosome 5q15."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615722"^^xsd:string, "ORDO:401777"^^xsd:string ; oboInOwl:hasExactSynonym "BBSOAS"^^xsd:string, "optic atrophy-intellectual disability syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112226"^^xsd:string ; a owl:Class ; rdfs:label "Bosch-Boonstra-Schaaf optic atrophy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112227 obo:IAO_0000115 "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112227"^^xsd:string ; a owl:Class ; rdfs:label "tubulinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_2490, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112228 obo:IAO_0000115 "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in MACF1 on chromosome 1p34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618325"^^xsd:string, "ORDO:572013"^^xsd:string ; oboInOwl:hasExactSynonym "LIS9"^^xsd:string, "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112228"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 9 with complex brainstem malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112229 obo:IAO_0000115 "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in CEP85L on chromosome 6q22.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618873"^^xsd:string ; oboInOwl:hasExactSynonym "LIS10"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112229"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 10"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112230 obo:IAO_0000115 "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615191"^^xsd:string ; oboInOwl:hasExactSynonym "LIS5"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112230"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 5"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112231 obo:IAO_0000115 "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in CDK5 on chromosome 7q36.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616342"^^xsd:string ; oboInOwl:hasExactSynonym "LIS7"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112231"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 7 with cerebellar hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112232 obo:IAO_0000115 "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in TUBA1A on chromosome 12q13.12."^^xsd:string ; oboInOwl:hasDbXref "OMIM:611603"^^xsd:string, "ORDO:171680"^^xsd:string ; oboInOwl:hasExactSynonym "LIS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112232"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112233 obo:IAO_0000115 "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617255"^^xsd:string ; oboInOwl:hasExactSynonym "LIS8"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112233"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 8"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050737, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112234 obo:IAO_0000115 "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly."^^xsd:string ; oboInOwl:hasDbXref "ORDO:1083"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112234"^^xsd:string ; a owl:Class ; rdfs:label "microlissencephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453 . obo:DOID_0112235 obo:IAO_0000115 "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in NDE1 on chromosome 16p13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:614019"^^xsd:string ; oboInOwl:hasExactSynonym "LIS4"^^xsd:string, "lissencephaly 4 with microcephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112235"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 4"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112234, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112236 obo:IAO_0000115 "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in KATNB1 on chromosome 16q21."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616212"^^xsd:string ; oboInOwl:hasExactSynonym "LIS6"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112236"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 6"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112234, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112237 obo:IAO_0000115 "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607432"^^xsd:string, "ORDO:95232"^^xsd:string ; oboInOwl:hasExactSynonym "LIS1"^^xsd:string, "PAFAH1B1-related lissencephaly"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112237"^^xsd:string ; a owl:Class ; rdfs:label "lissencephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112238 obo:IAO_0000115 "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300215"^^xsd:string, "ORDO:452"^^xsd:string ; oboInOwl:hasExactSynonym "X-linked lissencephaly with abnormal genitalia"^^xsd:string, "X-linked lissencephaly with ambiguous genitalia"^^xsd:string, "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome"^^xsd:string, "XLAG"^^xsd:string, "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome"^^xsd:string, "XLIS2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112238"^^xsd:string ; a owl:Class ; rdfs:label "X-linked lissencephaly 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112239 obo:IAO_0000115 "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23."^^xsd:string ; oboInOwl:hasDbXref "OMIM:300067"^^xsd:string ; oboInOwl:hasExactSynonym "XLIS1"^^xsd:string, "lissencephaly type 1 due to doublecortin gene mutation"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112239"^^xsd:string ; a owl:Class ; rdfs:label "X-linked lissencephaly 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050453, obo:DOID_0050735, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000936 ] . obo:DOID_0112240 obo:IAO_0000115 "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in TUBB4B on chromosome 9q34.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617879"^^xsd:string ; oboInOwl:hasExactSynonym "LCAEOD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112240"^^xsd:string ; a owl:Class ; rdfs:label "Leber congenital amaurosis with early-onset deafness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050155, obo:DOID_0050736, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112241 obo:IAO_0000115 "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin."^^xsd:string ; oboInOwl:hasDbXref "ORDO:2505"^^xsd:string ; oboInOwl:hasExactSynonym "CCSF"^^xsd:string, "Kunze-Riehm syndrome"^^xsd:string, "circumferential skin creases, Kunze type"^^xsd:string, "congenital circumferential skin folds"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112241"^^xsd:string ; a owl:Class ; rdfs:label "multiple benign circumferential skin creases on limbs"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_0112242 obo:IAO_0000115 "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in TUBB on chromosome 6p21.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:156610"^^xsd:string ; oboInOwl:hasExactSynonym "CSCSC1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112242"^^xsd:string ; a owl:Class ; rdfs:label "congenital symmetric circumferential skin creases 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112243 obo:IAO_0000115 "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in MAPRE2 on chromosome 18q12.1-q12.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616734"^^xsd:string ; oboInOwl:hasExactSynonym "CSCSC2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112243"^^xsd:string ; a owl:Class ; rdfs:label "congenital symmetric circumferential skin creases 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112241, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112244 obo:IAO_0000115 "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in RBM28 on chromosome 7q32.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:612079"^^xsd:string, "ORDO:157954"^^xsd:string ; oboInOwl:hasExactSynonym "ANE syndrome"^^xsd:string, "ANES"^^xsd:string, "alopecia-progressive neurological defect-endocrinopathy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112244"^^xsd:string ; a owl:Class ; rdfs:label "alopecia, neurologic defects, and endocrinopathy syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112245 obo:IAO_0000115 "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in CD2AP on chromosome 6p12.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:607832"^^xsd:string ; oboInOwl:hasExactSynonym "FSGS3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112245"^^xsd:string ; a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050739, obo:DOID_1312, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000934 ] . obo:DOID_0112246 obo:IAO_0000115 "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in SUGCT on chromosome 7p14.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:12469"^^xsd:string, "OMIM:231690"^^xsd:string, "ORDO:35706"^^xsd:string ; oboInOwl:hasExactSynonym "GA III"^^xsd:string, "GA3"^^xsd:string, "glutaric aciduria 3"^^xsd:string, "glutaric aciduria III"^^xsd:string, "glutaric aciduria type 3"^^xsd:string, "glutaryl-CoA oxidase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112246"^^xsd:string ; a owl:Class ; rdfs:label "glutaric acidemia type 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_906, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112247 obo:IAO_0000115 "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in CDK13 on chromosome 7p14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617360"^^xsd:string ; oboInOwl:hasExactSynonym "CDK13-Related CHDFIDD"^^xsd:string, "CDK13-Related Disorder"^^xsd:string, "CHDFIDD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112247"^^xsd:string ; a owl:Class ; rdfs:label "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112248 obo:IAO_0000115 "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of HSD17B3 on chromosome 9q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5659"^^xsd:string, "OMIM:264300"^^xsd:string, "ORDO:752"^^xsd:string ; oboInOwl:hasExactSynonym "17-KSR deficiency"^^xsd:string, "17-beta-hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string, "17-ketoreductase deficiency"^^xsd:string, "17-ketosteroidreductase deficiency"^^xsd:string, "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string, "male pseudohermaphroditism with gynecomastia"^^xsd:string, "neutral 17-beta-hydroxysteroid oxidoreductase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112248"^^xsd:string ; a owl:Class ; rdfs:label "17-beta hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112249 obo:IAO_0000115 "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR1 on chromosome 2p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:230740"^^xsd:string, "ORDO:2067"^^xsd:string ; oboInOwl:hasExactSynonym "growth delay-alopecia-pseudoanodontia-optic atrophy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112249"^^xsd:string ; a owl:Class ; rdfs:label "GAPO syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112250 obo:IAO_0000115 "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in GBA on chromosome 1q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:231005"^^xsd:string, "ORDO:2072"^^xsd:string ; oboInOwl:hasExactSynonym "GD3C"^^xsd:string, "Gaucher disease type 3C"^^xsd:string, "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"^^xsd:string, "Gaucher-like disease"^^xsd:string, "cardiovascular Gaucher disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112250"^^xsd:string ; a owl:Class ; rdfs:label "Gaucher's disease type IIIC"^^xsd:string ; rdfs:subClassOf obo:DOID_0110959, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112251 obo:IAO_0000115 "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34."^^xsd:string ; oboInOwl:hasDbXref "GARD:10297"^^xsd:string, "OMIM:231095"^^xsd:string, "ORDO:1802"^^xsd:string ; oboInOwl:hasExactSynonym "Ghosal hematodiaphyseal dysplasia"^^xsd:string, "Ghosal syndrome"^^xsd:string, "diaphyseal dysplasia-anemia syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112251"^^xsd:string ; a owl:Class ; rdfs:label "Ghosal hematodiaphyseal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112252 obo:IAO_0000115 "A glutathione synthetase deficiency characterized by hemolitic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:231900"^^xsd:string, "ORDO:289849"^^xsd:string ; oboInOwl:hasExactSynonym "glutathione synthetase deficiency without 5-oxoprolinuria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112252"^^xsd:string ; a owl:Class ; rdfs:label "hemolytic anemia due to glutathione synthetase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0080699, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112253 obo:IAO_0000115 "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in RAG1 or RAG2 on chromosome 11p12."^^xsd:string ; oboInOwl:hasDbXref "GARD:13587"^^xsd:string, "OMIM:233650"^^xsd:string, "ORDO:157949"^^xsd:string ; oboInOwl:hasExactSynonym "CCHIDG"^^xsd:string, "CID due to RAG 1/2 deficiency"^^xsd:string, "combined immunodeficiency due to RAG 1/2 deficiency"^^xsd:string, "combined immunodeficiency with granulomatosis"^^xsd:string, "combined immunodeficiency with skin granulomas"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112253"^^xsd:string ; a owl:Class ; rdfs:label "combined cellular and humoral immune defects with granulomas"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111962, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112254 obo:IAO_0000115 "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in SP110 on chromosome 2q37.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:10083"^^xsd:string, "OMIM:235550"^^xsd:string, "ORDO:79124"^^xsd:string ; oboInOwl:hasExactSynonym "VODI"^^xsd:string, "hepatic veno-occlusive disease-immunodeficiency syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112254"^^xsd:string ; a owl:Class ; rdfs:label "hepatic venoocclusive disease with immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112255 obo:IAO_0000115 "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTRR on chromosome 5p15.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:236270"^^xsd:string, "ORDO:2169"^^xsd:string ; oboInOwl:hasExactSynonym "HMAE"^^xsd:string, "functional methionine synthase deficiency type cblE"^^xsd:string, "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type"^^xsd:string, "methylcobalamin deficiency, cblE type"^^xsd:string, "vitamin B12-responsive homocystinuria, cblE type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112255"^^xsd:string ; a owl:Class ; rdfs:label "homocystinuria-megaloblastic anemia cblE type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112256 obo:IAO_0000115 "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43."^^xsd:string ; oboInOwl:hasDbXref "GARD:3577"^^xsd:string, "OMIM:250940"^^xsd:string, "ORDO:2170"^^xsd:string ; oboInOwl:hasExactSynonym "HMAG"^^xsd:string, "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type"^^xsd:string, "homocystinuria-megaloblastic anemia, cblG complementation type"^^xsd:string, "methylcobalamin deficiency, cblG type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112256"^^xsd:string ; a owl:Class ; rdfs:label "homocystinuria-megaloblastic anemia cblG type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112257 obo:IAO_0000115 "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in KYNU on chromosome 2q22.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:10039"^^xsd:string, "OMIM:236800"^^xsd:string, "ORDO:79155"^^xsd:string ; oboInOwl:hasExactSynonym "kynureninase deficiency"^^xsd:string, "xanthurenic aciduria"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112257"^^xsd:string ; a owl:Class ; rdfs:label "hydroxykynureninuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112258 obo:IAO_0000115 "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31."^^xsd:string ; oboInOwl:hasDbXref "GARD:7158"^^xsd:string, "OMIM:237310"^^xsd:string, "ORDO:927"^^xsd:string ; oboInOwl:hasExactSynonym "N-acetyl glutamate synthetase deficiency"^^xsd:string, "N-acetylglutamate synthetase deficiency"^^xsd:string, "NAG synthetase deficiency"^^xsd:string, "NAGS deficiency"^^xsd:string, "hyperammonemia due to N-acetylglutamate synthase deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112258"^^xsd:string ; a owl:Class ; rdfs:label "N-acetylglutamate synthase deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9267, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112259 obo:IAO_0000115 "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:3244"^^xsd:string, "MEDDRA:10024406"^^xsd:string, "ORDO:755"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to LH resistance or LHB deficiency"^^xsd:string, "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"^^xsd:string, "46,XY disorder of sex development due to LH resistance or LHB deficiency"^^xsd:string, "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112259"^^xsd:string ; a owl:Class ; rdfs:label "Leydig cell hypoplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3765, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112260 obo:IAO_0000115 "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:238320"^^xsd:string, "ORDO:96265"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to complete LH receptor inactivation"^^xsd:string, "46,XY DSD due to complete LH resistance"^^xsd:string, "46,XY DSD due to complete luteinizing hormone receptor inactivation"^^xsd:string, "46,XY DSD due to complete luteinizing hormone resistance"^^xsd:string, "46,XY disorder of sex development due to complete LH receptor inactivation"^^xsd:string, "46,XY disorder of sex development due to complete LH resistance"^^xsd:string, "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation"^^xsd:string, "46,XY disorder of sex development due to complete luteinizing hormone resistance"^^xsd:string, "Leydig cell hypoplasia due to complete LH receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to complete luteinizing hormone resistance"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112260"^^xsd:string ; a owl:Class ; rdfs:label "Leydig cell hypoplasia type I"^^xsd:string ; rdfs:subClassOf obo:DOID_0112259, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112261 obo:IAO_0000115 "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in LHCGR on chromosome 2p16.3."^^xsd:string ; oboInOwl:hasDbXref "ORDO:96266"^^xsd:string ; oboInOwl:hasExactSynonym "46,XY DSD due to partial LH receptor inactivation"^^xsd:string, "46,XY DSD due to partial LH resistance"^^xsd:string, "46,XY DSD due to partial luteinizing hormone resistance"^^xsd:string, "46,XY disorder of sex developement due to partial LH receptor inactivation"^^xsd:string, "46,XY disorder of sex developement due to partial LH resistance"^^xsd:string, "46,XY disorder of sex developement due to partial luteinizing hormone resistance"^^xsd:string, "Leydig cell hypoplasia due to partial LH receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to partial LH resistance"^^xsd:string, "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation"^^xsd:string, "Leydig cell hypoplasia due to partial luteinizing hormone resistance"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112261"^^xsd:string ; a owl:Class ; rdfs:label "Leydig cell hypoplasia type II"^^xsd:string ; rdfs:subClassOf obo:DOID_0112259, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112262 obo:IAO_0000115 "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in SUR1 on chromosome 11p15.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:9915"^^xsd:string, "OMIM:240800"^^xsd:string ; oboInOwl:hasExactSynonym "LIH"^^xsd:string, "leucine-induced hypoglycemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112262"^^xsd:string ; a owl:Class ; rdfs:label "leucine-sensitive hypoglycemia of infancy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112263 obo:IAO_0000115 "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in AKT2 on chromosome 19q13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:240900"^^xsd:string, "ORDO:293964"^^xsd:string ; oboInOwl:hasExactSynonym "HIHGHH"^^xsd:string, "hypoinsulinemic hypoglycemia and body hemihypertrophy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112263"^^xsd:string ; a owl:Class ; rdfs:label "hypoinsulinemic hypoglycemia with hemihypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_655, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112264 obo:IAO_0000115 "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in DCAF17 on chromosome 2q31.1."^^xsd:string ; oboInOwl:hasDbXref "GARD:5592"^^xsd:string, "MESH:C536742"^^xsd:string, "OMIM:241080"^^xsd:string, "ORDO:3464"^^xsd:string ; oboInOwl:hasExactSynonym "diabetes-hypogonadism-deafness-intellectual disability syndrome"^^xsd:string, "diabetes-hypogonadism-hearing loss-intellectual disability syndrome"^^xsd:string, "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome"^^xsd:string, "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112264"^^xsd:string ; a owl:Class ; rdfs:label "Woodhouse-Sakati syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112265 obo:IAO_0000115 "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33."^^xsd:string ; oboInOwl:hasDbXref "GARD:8424"^^xsd:string, "MESH:C536285"^^xsd:string, "OMIM:242600"^^xsd:string, "ORDO:42062"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112265"^^xsd:string ; a owl:Class ; rdfs:label "iminoglycinuria"^^xsd:string ; rdfs:subClassOf obo:DOID_0080578, obo:DOID_447, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000930 ] . obo:DOID_0112266 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in KIRREL1 on chromosome 1q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619201"^^xsd:string ; oboInOwl:hasExactSynonym "NPHS23"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112266"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 23"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112267 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in AVIL on chromosome 12q14.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618594"^^xsd:string ; oboInOwl:hasExactSynonym "NPHS21"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112267"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 21"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112268 obo:IAO_0000115 "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in NOS1AP on chromosome 1q23.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619155"^^xsd:string ; oboInOwl:hasExactSynonym "NPHS22"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112268"^^xsd:string ; a owl:Class ; rdfs:label "nephrotic syndrome type 22"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_2590, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112269 obo:IAO_0000115 "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619203"^^xsd:string ; oboInOwl:hasExactSynonym "POF18"^^xsd:string, "premature ovarian failure 18"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112269"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 18"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112270 obo:IAO_0000115 "An azoospermia characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619202"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF52"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112270"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 52"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112271 obo:IAO_0000115 "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP58 on chromosome 10q25.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619144"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF98"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112271"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 49"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112272 obo:IAO_0000115 "An azoospermia characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in XRCC2 on chromosome 7q36.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619145"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF50"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112272"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 50"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_14227, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112273 obo:IAO_0000115 "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in CFAP91 on chromosome 3q13.33."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619177"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF51"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112273"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 51"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112274 obo:IAO_0000115 "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in CFAP47 on chromosome Xp21.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:301059"^^xsd:string ; oboInOwl:hasExactSynonym "SPGFX3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112274"^^xsd:string ; a owl:Class ; rdfs:label "X-linked spermatogenic failure 3"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_0112275 obo:IAO_0000115 "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in ATP6V1A on chromosome 3q13.31."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618012"^^xsd:string ; oboInOwl:hasExactSynonym "DEE93"^^xsd:string, "IECEE3"^^xsd:string, "infantile or early childhood epileptic encephalopathy 3"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112275"^^xsd:string ; a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 93"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112202, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112276 obo:IAO_0000115 "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of GNAO1 on chromosome 16q13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:617493"^^xsd:string ; oboInOwl:hasExactSynonym "NEDIM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112276"^^xsd:string ; a owl:Class ; rdfs:label "neurodevelopmental disorder with involuntary movements"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_480, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112277 obo:IAO_0000115 "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619238"^^xsd:string ; oboInOwl:hasExactSynonym "IMD79"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112277"^^xsd:string ; a owl:Class ; rdfs:label "immunodeficiency 79"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_11200, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112278 obo:IAO_0000115 "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in HSF2BP on chromosome 21q22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619245"^^xsd:string ; oboInOwl:hasExactSynonym "POF19"^^xsd:string, "POI19"^^xsd:string, "premature ovarian failure 19"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112278"^^xsd:string ; a owl:Class ; rdfs:label "primary ovarian insufficiency 19"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_5426, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112279 obo:IAO_0000115 "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in ACTL9 on chromosome 19p13.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619258"^^xsd:string ; oboInOwl:hasExactSynonym "SPGF53"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112279"^^xsd:string ; a owl:Class ; rdfs:label "spermatogenic failure 53"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0111910, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112280 obo:IAO_0000115 "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs."^^xsd:string ; oboInOwl:hasDbXref "GARD:7687"^^xsd:string ; oboInOwl:hasExactSynonym "SED"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112280"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0112281 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^xsd:string ; oboInOwl:hasDbXref "OMIM:616583"^^xsd:string, "ORDO:459051"^^xsd:string ; oboInOwl:hasExactSynonym "SED Stanescu type"^^xsd:string, "SEDSTN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112281"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Stanescu type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112282 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in ACAN on chromosome 15q26.1."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564252"^^xsd:string, "OMIM:608361"^^xsd:string, "ORDO:93283"^^xsd:string, "SNOMEDCT_US_2021_03_01:719203001"^^xsd:string, "UMLS_CUI:C1842149"^^xsd:string ; oboInOwl:hasExactSynonym "SEDK"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112282"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Kimberley type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112283 obo:IAO_0000115 "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in MBTPS1 on chromosome 16q23.3-q24.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618392"^^xsd:string ; oboInOwl:hasExactSynonym "SED with elevated blood lysosomal enzymes"^^xsd:string, "SEDKF"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112283"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Kondo-Fu type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112284 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth."^^xsd:string ; oboInOwl:hasDbXref "ORDO:93284"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112284"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda"^^xsd:string ; rdfs:subClassOf obo:DOID_0112280 . obo:DOID_0112285 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13."^^xsd:string ; oboInOwl:hasDbXref "GARD:10624"^^xsd:string, "OMIM:184100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112285"^^xsd:string ; a owl:Class ; rdfs:label "autosomal dominant spondyloepiphyseal dysplasia tarda"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112286 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma."^^xsd:string ; oboInOwl:hasDbXref "OMIM:183850"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112286"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with punctate corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0112280 . obo:DOID_0112287 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech."^^xsd:string ; oboInOwl:hasDbXref "GARD:10629"^^xsd:string, "MESH:C567128"^^xsd:string, "OMIM:611717"^^xsd:string, "ORDO:163654"^^xsd:string, "SNOMEDCT_US_2021_03_01:718765003"^^xsd:string, "UMLS_CUI:C2673649"^^xsd:string ; oboInOwl:hasExactSynonym "Fantasy Island syndrome"^^xsd:string, "SED-BDS"^^xsd:string, "SED-brachydactyly and distinctive speech"^^xsd:string, "Tattoo dysplasia"^^xsd:string, "spondyloepiphyseal dysplasia, Cantu type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112287"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech"^^xsd:string ; rdfs:subClassOf obo:DOID_0112280 . obo:DOID_0112288 obo:IAO_0000115 "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in MIR140 on chromosome 16q22.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618618"^^xsd:string ; oboInOwl:hasExactSynonym "SEDN"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112288"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia Nishimura type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112280, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112289 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay."^^xsd:string ; oboInOwl:hasDbXref "OMIM:600093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112289"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda with characteristic facies"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112290 obo:IAO_0000115 "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22."^^xsd:string ; oboInOwl:hasDbXref "OMIM:619260"^^xsd:string ; oboInOwl:hasExactSynonym "SHILCA syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112290"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112291 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities."^^xsd:string ; oboInOwl:hasDbXref "OMIM:609223"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112291"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112292 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "MESH:C564796"^^xsd:string, "OMIM:271620"^^xsd:string, "ORDO:163665"^^xsd:string, "UMLS_CUI:C1849053"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112292"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda with intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112293 obo:IAO_0000115 "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease."^^xsd:string ; oboInOwl:hasDbXref "OMIM:271600"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112293"^^xsd:string ; a owl:Class ; rdfs:label "autosomal recessive spondyloepiphyseal dysplasia tarda"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112284, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112294 obo:IAO_0000115 "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "OMIM:602611"^^xsd:string, "ORDO:163649"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112294"^^xsd:string ; a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_0112295 obo:IAO_0000115 "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions."^^xsd:string ; oboInOwl:hasDbXref "ORDO:254"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112295"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_0112296 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet."^^xsd:string ; oboInOwl:hasDbXref "GARD:504"^^xsd:string, "MESH:C535794"^^xsd:string, "OMIM:184253"^^xsd:string, "ORDO:93316"^^xsd:string, "SNOMEDCT_US_2021_03_01:719304005"^^xsd:string, "UMLS_CUI:C1866688"^^xsd:string ; oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia with severe genu valgum"^^xsd:string, "spondylometaphyseal dysplasia, Schmidt type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112296"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Algerian type"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112297 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35."^^xsd:string ; oboInOwl:hasDbXref "GARD:4991"^^xsd:string, "MESH:C535793"^^xsd:string, "OMIM:184255"^^xsd:string, "ORDO:93315"^^xsd:string, "SNOMEDCT_US_2021_03_01:254078005"^^xsd:string, "UMLS_CUI:C0432221"^^xsd:string ; oboInOwl:hasExactSynonym "SMDCF"^^xsd:string, "spondylometaphyseal dysplasia Sutcliffe type"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112297"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia corner fracture type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112298 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in GPX4 on chromosome 19p13.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:4993"^^xsd:string, "MESH:C535798"^^xsd:string, "OMIM:250220"^^xsd:string, "ORDO:93317"^^xsd:string, "UMLS_CUI:C1855229"^^xsd:string ; oboInOwl:hasExactSynonym "SMDS"^^xsd:string, "Sedaghatian chondrodysplasia"^^xsd:string, "congenital lethal metaphyseal chondrodysplasia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112298"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Sedaghatian type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112299 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in CFAP410 on chromosome 21q22.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:8720"^^xsd:string, "MESH:C535795"^^xsd:string, "OMIM:602271"^^xsd:string, "ORDO:168549"^^xsd:string, "SNOMEDCT_US_2021_03_01:771301002"^^xsd:string, "UMLS_CUI:C1865695"^^xsd:string ; oboInOwl:hasExactSynonym "SMD axial"^^xsd:string, "SMDAX"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112299"^^xsd:string ; a owl:Class ; rdfs:label "axial spondylometaphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112300 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in PCYT1A on chromosome 3q29."^^xsd:string ; oboInOwl:hasDbXref "GARD:10647"^^xsd:string, "MESH:C563825"^^xsd:string, "OMIM:608940"^^xsd:string, "ORDO:85167"^^xsd:string, "UMLS_CUI:C1837073"^^xsd:string ; oboInOwl:hasExactSynonym "SMD-CRD"^^xsd:string, "SMDCRD"^^xsd:string, "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112300"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with cone-rod dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112301 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities."^^xsd:string ; oboInOwl:hasDbXref "GARD:458"^^xsd:string, "MESH:C563803"^^xsd:string, "OMIM:609052"^^xsd:string, "ORDO:168555"^^xsd:string, "SNOMEDCT_US_2021_03_01:782912001"^^xsd:string, "UMLS_CUI:C1836862"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112301"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia type A4"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112302 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies."^^xsd:string ; oboInOwl:hasDbXref "GARD:4992"^^xsd:string, "OMIM:611702"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112302"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia East African type"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112303 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PLCB3 on chromosome 11q13.1."^^xsd:string ; oboInOwl:hasDbXref "OMIM:618961"^^xsd:string ; oboInOwl:hasExactSynonym "SMDCD"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112303"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112304 obo:IAO_0000115 "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in PAM16 on chromosome 16p13.3."^^xsd:string ; oboInOwl:hasDbXref "OMIM:613320"^^xsd:string, "ORDO:401979"^^xsd:string ; oboInOwl:hasExactSynonym "Megarbane-Dagher-Melike type chondrodysplasia"^^xsd:string, "SMDMDM"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112304"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia Megarbane-Dagher-Melike type"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_0112295, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112305 obo:IAO_0000115 "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia."^^xsd:string ; oboInOwl:hasDbXref "GARD:8719"^^xsd:string, "MESH:C535791"^^xsd:string, "OMIM:607543"^^xsd:string, "ORDO:168552"^^xsd:string, "UMLS_CUI:C1843706"^^xsd:string ; oboInOwl:hasExactSynonym "SMD with bowed forearms and facial dysmorphism"^^xsd:string, "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112305"^^xsd:string ; a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism"^^xsd:string ; rdfs:subClassOf obo:DOID_0112295 . obo:DOID_0112306 obo:IAO_0000115 "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of GCGR on chromosome 17q25.3."^^xsd:string ; oboInOwl:hasDbXref "GARD:10460"^^xsd:string, "ORDO:438274"^^xsd:string ; oboInOwl:hasExactSynonym "GCGR-related hyperglucagonemia"^^xsd:string, "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112306"^^xsd:string ; a owl:Class ; rdfs:label "Mahvash Disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_1428, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112307 obo:IAO_0000115 "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in SARDH on chromosome 9q34.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:158"^^xsd:string, "ICD10CM:E72.59"^^xsd:string, "MEDDRA:10059299"^^xsd:string, "MESH:C537236"^^xsd:string, "OMIM:268900"^^xsd:string, "ORDO:3129"^^xsd:string, "SNOMEDCT_US_2021_03_01:64852002"^^xsd:string, "UMLS_CUI:C0268563"^^xsd:string, "ulr:https://pubmed.ncbi.nlm.nih.gov/22825317/"^^xsd:string ; oboInOwl:hasExactSynonym "SARCOS"^^xsd:string, "SARD deficiency"^^xsd:string, "SARDH deficiency"^^xsd:string, "demethylation defect of N-methylglycine"^^xsd:string, "sarcosine dehydrogenase complex deficiency"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112307"^^xsd:string ; a owl:Class ; rdfs:label "sarcosinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_0112308 obo:IAO_0000115 "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E22.8"^^xsd:string, "MESH:D011629"^^xsd:string, "NCI:C113217"^^xsd:string, "ORDO:759"^^xsd:string, "SNOMEDCT_US_2021_03_01:237816004"^^xsd:string, "UMLS_CUI:C0342543"^^xsd:string ; oboInOwl:hasExactSynonym "CPP"^^xsd:string, "gonadotropin-dependant precocious puberty"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112308"^^xsd:string ; a owl:Class ; rdfs:label "central precocious puberty"^^xsd:string ; rdfs:subClassOf obo:DOID_28 . obo:DOID_0112309 obo:IAO_0000115 "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of MKRN3 chromosome 15q11.2."^^xsd:string ; oboInOwl:hasDbXref "OMIM:615346"^^xsd:string ; oboInOwl:hasExactSynonym "CPPB2"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112309"^^xsd:string ; a owl:Class ; rdfs:label "central precocious puberty 2"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112308, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_0112310 obo:IAO_0000115 "A central precocious puberty that has_material_basis_in heterozygous mutation in KISS1R on chromosome 19p13."^^xsd:string ; oboInOwl:hasDbXref "OMIM:176400"^^xsd:string ; oboInOwl:hasExactSynonym "CPPB1"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:0112310"^^xsd:string ; a owl:Class ; rdfs:label "central precocious puberty 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0112308, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_070355 obo:IAO_0000115 "A motor neuron disease that has material_basis_in some inheritance and affects muscle, bone, and the nervous system."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:070355"^^xsd:string ; a owl:Class ; rdfs:label "multisystem proteinopathy"@en ; rdfs:subClassOf obo:DOID_231 . obo:DOID_100 obo:IAO_0000115 "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10960"^^xsd:string, "DOID:12509"^^xsd:string, "DOID:5270"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A00-A09"^^xsd:string, "ICD9CM:001-009.99"^^xsd:string, "SNOMEDCT_US_2021_03_01:187266003"^^xsd:string, "UMLS_CUI:C0178238"^^xsd:string ; oboInOwl:hasExactSynonym "bacterial enteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:100"^^xsd:string ; a owl:Class ; rdfs:comment "Updating outdated UMLS CUI."^^xsd:string ; rdfs:label "intestinal infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10000 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10000"^^xsd:string ; a owl:Class ; rdfs:label "obsolete visual cortex disorder due to neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_10003 obo:IAO_0000115 "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11053"^^xsd:string, "DOID:12112"^^xsd:string, "DOID:12114"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H90.5"^^xsd:string, "ICD9CM:389.1"^^xsd:string, "MESH:D006319"^^xsd:string, "NCI:C26739"^^xsd:string, "SNOMEDCT_US_2021_03_01:60700002"^^xsd:string, "UMLS_CUI:C0018784"^^xsd:string ; oboInOwl:hasExactSynonym "High Frequency Hearing Loss"@en, "High frequency deafness"@en, "Perceptive deafness"@en, "Perceptive hearing loss"@en, "Perceptive hearing loss or deafness"@en, "Sensorineural Deafness"@en, "Sensory hearing loss"@en, "central hearing loss"@en, "high-frequency hearing loss"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10003"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "sensorineural hearing loss"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 ; skos:exactMatch "MESH:D006319"^^xsd:string . obo:DOID_10007 obo:IAO_0000115 "A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10006"^^xsd:string, "DOID:2941"^^xsd:string ; oboInOwl:hasExactSynonym "acute bronchiolitis due to RSV"@en, "capillary pneumonia"@en, "viral bronchiolitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10007"^^xsd:string ; a owl:Class ; rdfs:label "obsolete respiratory syncytial virus bronchiolitis"^^xsd:string ; owl:deprecated true . obo:DOID_1001 oboInOwl:hasExactSynonym "Labour complications"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete labor complications"^^xsd:string ; owl:deprecated true . obo:DOID_10011 obo:IAO_0000115 "A thyroid gland cancer that has_material_basis_in lymphocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5265"^^xsd:string, "UMLS_CUI:C1336753"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10011"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1781, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10012 oboInOwl:hasExactSynonym "metastatic tumor to the Thyroid"@en, "secondary malignant neoplasm of thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10012"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic malignant neoplasm to the thyroid"^^xsd:string ; owl:deprecated true . obo:DOID_10013 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10013"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polyglandular activity in multiple endocrine adenomatosis"^^xsd:string ; owl:deprecated true . obo:DOID_10015 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10015"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polyglandular dysfunction"^^xsd:string ; owl:deprecated true . obo:DOID_10016 obo:IAO_0000115 "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E31.23"^^xsd:string, "ICD9CM:258.03"^^xsd:string, "MESH:D018814"^^xsd:string, "NCI:C3227"^^xsd:string, "OMIM:162300"^^xsd:string, "ORDO:247709"^^xsd:string, "SNOMEDCT_US_2021_03_01:61530001"^^xsd:string, "UMLS_CUI:C0025269"^^xsd:string ; oboInOwl:hasExactSynonym "MEN type IIB"@en, "MEN2B"@en, "Multiple endocrine neoplasia, type 3"@en, "Wagenmann-Froboese syndrome"@en, "mucosal neuroma syndrome"@en, "multiple endocrine neoplasia type 2b"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10016"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple endocrine neoplasia type 2B"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_10017 obo:IAO_0000115 "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas."^^xsd:string ; oboInOwl:hasDbXref "GARD:3829"^^xsd:string, "ICD10CM:E31.21"^^xsd:string, "ICD9CM:258.01"^^xsd:string, "MESH:D018761"^^xsd:string, "NCI:C3225"^^xsd:string, "OMIM:131100"^^xsd:string, "ORDO:652"^^xsd:string, "SNOMEDCT_US_2021_03_01:30664006"^^xsd:string, "UMLS_CUI:C0025267"^^xsd:string ; oboInOwl:hasExactSynonym "MEN type I"@en, "Wermer syndrome"@en, "Wermer's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10017"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "multiple endocrine neoplasia type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_3125, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_10018 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10018"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papilledema associated with increased intracranial pressure"^^xsd:string ; owl:deprecated true . obo:DOID_1002 obo:IAO_0000115 "An endometrial disease that is characterized by inflammation of the endometrium."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004716"^^xsd:string, "NCI:C26764"^^xsd:string, "SNOMEDCT_US_2021_03_01:155975003"^^xsd:string, "UMLS_CUI:C0014179"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1002"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1005, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10020 obo:IAO_0000115 "A duodenum cancer that is located_in the ampulla of Vater."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C24.1"^^xsd:string, "ICD9CM:156.2"^^xsd:string, "NCI:C3536"^^xsd:string, "SNOMEDCT_US_2021_03_01:93668007"^^xsd:string, "UMLS_CUI:C0153454"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumour of ampulla of vater"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10020"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10021, obo:DOID_4606 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004913 ] ) ] . obo:DOID_10021 obo:IAO_0000115 "A small intestine cancer that is located_in the beginning section of the small intestine."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:6072"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C17.0"^^xsd:string, "ICD9CM:152.0"^^xsd:string, "MESH:D004379"^^xsd:string, "NCI:C4803"^^xsd:string, "NCI:C9328"^^xsd:string, "SNOMEDCT_US_2021_03_01:254570009"^^xsd:string, "SNOMEDCT_US_2021_03_01:363403002"^^xsd:string, "UMLS_CUI:C0153426"^^xsd:string, "UMLS_CUI:C0541912"^^xsd:string ; oboInOwl:hasExactSynonym "Duodenal cancer"@en, "cancer of duodenum"@en, "duodenal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10021"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "duodenum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10154, obo:DOID_4072 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002114 ] ) ] . obo:DOID_10022 obo:IAO_0000115 "A biliary tract benign neoplasm that is located_in the ampulla of Vater."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4443"^^xsd:string, "SNOMEDCT_US_2021_03_01:126858004"^^xsd:string, "UMLS_CUI:C0345916"^^xsd:string ; oboInOwl:hasExactSynonym "tumor of the ampulla of Vater"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10022"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ampulla of Vater benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_1737, obo:DOID_4138, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004913 ] . obo:DOID_10024 obo:IAO_0000115 "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10025"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G43.1"^^xsd:string, "ICD9CM:346.0"^^xsd:string, "MESH:D020325"^^xsd:string, "NCI:C117005"^^xsd:string, "OMIM:609179"^^xsd:string, "OMIM:609670"^^xsd:string, "SNOMEDCT_US_2021_03_01:155047002"^^xsd:string, "UMLS_CUI:C0154723"^^xsd:string ; oboInOwl:hasExactSynonym "classic migraine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10024"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "migraine with aura"^^xsd:string ; rdfs:subClassOf obo:DOID_6364 . obo:DOID_10027 obo:IAO_0000115 "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction."^^xsd:string ; oboInOwl:hasDbXref "GARD:8730"^^xsd:string, "ICD10CM:A52.11"^^xsd:string, "ICD9CM:094.0"^^xsd:string, "MESH:D013606"^^xsd:string, "NCI:C35057"^^xsd:string, "SNOMEDCT_US_2021_03_01:266134000"^^xsd:string, "UMLS_CUI:C0039223"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior spinal sclerosis"@en, "Tabes dorsalis - neurosyphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10027"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "tabes dorsalis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000300 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000427 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000435 ] . obo:DOID_1003 obo:IAO_0000115 "A female reproductive system disease that is characterized by an infection of the female reproductive organs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N73.9"^^xsd:string, "ICD9CM:614.9"^^xsd:string, "MESH:D000292"^^xsd:string, "NCI:C3889"^^xsd:string, "SNOMEDCT_US_2021_03_01:266648001"^^xsd:string, "UMLS_CUI:C0242172"^^xsd:string ; oboInOwl:hasExactSynonym "PID"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pelvic inflammatory disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_229, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ] . obo:DOID_10030 obo:IAO_0000115 "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.2"^^xsd:string, "ICD9CM:518.1"^^xsd:string, "NCI:C34571"^^xsd:string, "SNOMEDCT_US_2021_03_01:11211003"^^xsd:string, "UMLS_CUI:C1370824"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary interstitial emphysema"^^xsd:string ; rdfs:subClassOf obo:DOID_9675 . obo:DOID_10031 obo:IAO_0000115 "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.3"^^xsd:string, "ICD9CM:518.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:33325001"^^xsd:string, "UMLS_CUI:C0155918"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10031"^^xsd:string ; a owl:Class ; rdfs:label "compensatory emphysema"^^xsd:string ; rdfs:subClassOf obo:DOID_9675 . obo:DOID_10032 obo:IAO_0000115 "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT."^^xsd:string ; oboInOwl:hasDbXref "MESH:D019568"^^xsd:string, "UMLS_CUI:C0524799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10032"^^xsd:string ; a owl:Class ; rdfs:label "hyperlucent lung"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_10033 obo:IAO_0000115 "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H52.52"^^xsd:string, "ICD9CM:367.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:68158006"^^xsd:string, "UMLS_CUI:C0235238"^^xsd:string ; oboInOwl:hasExactSynonym "Ciliary muscle paresis"@en, "Cycloplegic paralysis of accommodation"@en, "Paresis of accommodation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10033"^^xsd:string ; a owl:Class ; rdfs:label "cycloplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_10034 . obo:DOID_10034 obo:IAO_0000115 "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H52.5"^^xsd:string, "ICD9CM:367.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:155137002"^^xsd:string, "UMLS_CUI:C0152198"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10034"^^xsd:string ; a owl:Class ; rdfs:label "eye accommodation disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_10035 obo:IAO_0000115 "A tertiary neurosyphilis that results_in mild meningitis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A52.2"^^xsd:string, "ICD9CM:094.3"^^xsd:string, "MESH:D009494"^^xsd:string, "SNOMEDCT_US_2021_03_01:37754005"^^xsd:string, "UMLS_CUI:C0153167"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10035"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "asymptomatic neurosyphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9988, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019173 ] . obo:DOID_10038 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10038"^^xsd:string ; a owl:Class ; rdfs:label "obsolete old burn scar-related melanoma of skin"^^xsd:string ; owl:deprecated true . obo:DOID_10039 obo:IAO_0000115 "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10796"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A50.40"^^xsd:string, "ICD10CM:A50.5"^^xsd:string, "ICD9CM:090.4"^^xsd:string, "ICD9CM:090.5"^^xsd:string, "MESH:D009494"^^xsd:string, "SNOMEDCT_US_2021_03_01:187350002"^^xsd:string, "SNOMEDCT_US_2021_03_01:4243004"^^xsd:string, "UMLS_CUI:C0153132"^^xsd:string, "UMLS_CUI:C0153136"^^xsd:string ; oboInOwl:hasExactSynonym "juvenile neurosyphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10039"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "late congenital syphilis"^^xsd:string ; rdfs:subClassOf obo:DOID_9856, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000018 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_10040 obo:IAO_0000115 "A skin melanoma that arises from the upper or lower eyelid."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4358"^^xsd:string, "SNOMEDCT_US_2021_03_01:231834005"^^xsd:string, "UMLS_CUI:C0339116"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10040"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant eyelid melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10041 obo:IAO_0000115 "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members."^^xsd:string ; oboInOwl:hasDbXref "GARD:9281"^^xsd:string, "MESH:D004416"^^xsd:string, "UMLS_CUI:C0205747"^^xsd:string ; oboInOwl:hasExactSynonym "FAMM syndrome"@en, "familial atypical multiple mole-melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10041"^^xsd:string ; a owl:Class ; rdfs:label "dysplastic nevus syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] ; skos:exactMatch "MESH:D004416"^^xsd:string . obo:DOID_10042 oboInOwl:hasExactSynonym "regressing malignant melanoma of the skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10042"^^xsd:string ; a owl:Class ; rdfs:label "obsolete regressing skin melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_10044 obo:IAO_0000115 "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4227"^^xsd:string, "SNOMEDCT_US_2021_03_01:403922007"^^xsd:string, "UMLS_CUI:C0334426"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "balloon cell malignant melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10045 oboInOwl:hasExactSynonym "malignant melanoma in congenital melanocytic naevus"@en, "skin melanoma in Giant Pigmented nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10045"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant giant pigmented nevus melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_10047 obo:IAO_0000115 "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule."^^xsd:string ; oboInOwl:hasDbXref "GARD:9961"^^xsd:string, "NCI:C4225"^^xsd:string, "SNOMEDCT_US_2021_03_01:2142002"^^xsd:string, "UMLS_CUI:C0334424"^^xsd:string ; oboInOwl:hasExactSynonym "nodular melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10047"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "nodular malignant melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10048 oboInOwl:hasExactSynonym "malignant melanoma in junctional nevus (morphologic abnormality)"@en, "melanoma in Junctional nevus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10048"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant junctional nevus melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_10049 obo:IAO_0000115 "A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10049"^^xsd:string ; a owl:Class ; rdfs:label "obsolete desmoplastic melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_1005 obo:IAO_0000115 "A uterine disease that is located_in the endometrium."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3504"^^xsd:string, "SNOMEDCT_US_2021_03_01:418632009"^^xsd:string, "UMLS_CUI:C0151622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1005"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometrial disease"^^xsd:string ; rdfs:subClassOf obo:DOID_345 . obo:DOID_10053 oboInOwl:hasExactSynonym "Blue nevus-Like melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10053"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant skin blue nevus"^^xsd:string ; owl:deprecated true . obo:DOID_10054 obo:IAO_0000115 "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4633"^^xsd:string, "SNOMEDCT_US_2021_03_01:276751004"^^xsd:string, "UMLS_CUI:C0349515"^^xsd:string ; oboInOwl:hasExactSynonym "skin amelanotic malignant melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10054"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin amelanotic melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_8923 . obo:DOID_10059 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10059"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10066 obo:IAO_0000115 "A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10066"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic acoustic neuritis"^^xsd:string ; owl:deprecated true . obo:DOID_10069 obo:IAO_0000115 "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4426"^^xsd:string, "SNOMEDCT_US_2021_03_01:126696001"^^xsd:string, "UMLS_CUI:C0345746"^^xsd:string ; oboInOwl:hasExactSynonym "Subglottic tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10069"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottis benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_2598 . obo:DOID_10070 obo:IAO_0000115 "A laryngeal benign neoplasm that derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6027"^^xsd:string, "UMLS_CUI:C1334370"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10070"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_127, obo:DOID_2598, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_10071 obo:IAO_0000115 "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7742"^^xsd:string, "SNOMEDCT_US_2021_03_01:269637007"^^xsd:string, "UMLS_CUI:C0240164"^^xsd:string ; oboInOwl:hasExactSynonym "Laryngeal Squamous Cell Papilloma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10071"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "larynx squamous papilloma"^^xsd:string ; rdfs:subClassOf obo:DOID_2598, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019181 ] . obo:DOID_10073 obo:IAO_0000115 "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord."^^xsd:string ; oboInOwl:hasDbXref "GARD:8731"^^xsd:string, "ICD9CM:094.2"^^xsd:string, "MESH:C536775"^^xsd:string, "SNOMEDCT_US_2021_03_01:14968007"^^xsd:string, "UMLS_CUI:C0153166"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10073"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "syphilitic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9470, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10074 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness."^^xsd:string ; oboInOwl:hasDbXref "GARD:2787"^^xsd:string, "ICD10CM:B71.0"^^xsd:string, "ICD9CM:123.6"^^xsd:string, "MESH:D006925"^^xsd:string, "NCI:C84768"^^xsd:string, "SNOMEDCT_US_2021_03_01:187153007"^^xsd:string, "UMLS_CUI:C0020413"^^xsd:string ; oboInOwl:hasExactSynonym "Hymenolepis infectious disease"@en, "dwarf tapeworm infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10074"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hymenolepiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6215 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_10075 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia."^^xsd:string ; oboInOwl:hasDbXref "GARD:942"^^xsd:string, "ICD10CM:B70.0"^^xsd:string, "ICD9CM:123.4"^^xsd:string, "MESH:D004169"^^xsd:string, "NCI:C128391"^^xsd:string, "SNOMEDCT_US_2021_03_01:187151009"^^xsd:string, "UMLS_CUI:C0012561"^^xsd:string ; oboInOwl:hasExactSynonym "Diphyllobothrium infection"@en, "fish tapeworm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10075"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diphyllobothriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_60516 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000188 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] ; skos:exactMatch "MESH:D004169"^^xsd:string . obo:DOID_10079 obo:IAO_0000115 "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10078"^^xsd:string, "DOID:14424"^^xsd:string ; oboInOwl:hasDbXref "GARD:8194"^^xsd:string, "ICD10CM:B69"^^xsd:string, "ICD9CM:123.1"^^xsd:string, "MESH:D003551"^^xsd:string, "NCI:C34520"^^xsd:string, "SNOMEDCT_US_2021_03_01:59051007"^^xsd:string, "UMLS_CUI:C0010678"^^xsd:string ; oboInOwl:hasExactSynonym "Pork tapeworm infection"@en, "Tapeworm infection: intestinal taenia solum"@en, "Tapeworm infection: pork"@en, "intestinal taenia solium infection"@en, "neurocysticercosis"@en, "tenia solium infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10079"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cysticercosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050596, obo:DOID_0080000, obo:DOID_114, obo:DOID_331, obo:DOID_37, obo:DOID_5614, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_10080 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B70.1"^^xsd:string, "ICD9CM:123.5"^^xsd:string, "MESH:D013031"^^xsd:string, "NCI:C35030"^^xsd:string, "SNOMEDCT_US_2021_03_01:187152002"^^xsd:string, "UMLS_CUI:C0037753"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Sparganum"@en, "Sparganosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sparganosis"^^xsd:string ; rdfs:subClassOf obo:DOID_18, obo:DOID_2952, obo:DOID_3463, obo:DOID_850, obo:DOID_883, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000310 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001008 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001846 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002402 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004867 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0011818 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0017672 ] ) ] ; skos:exactMatch "MESH:D013031"^^xsd:string . obo:DOID_10081 obo:IAO_0000115 "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:094.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:26135000"^^xsd:string, "UMLS_CUI:C0153168"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10081"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "syphilitic encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9588, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_10087 obo:IAO_0000115 "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3876"^^xsd:string, "SNOMEDCT_US_2021_03_01:276812001"^^xsd:string, "UMLS_CUI:C0238440"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10087"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624 . obo:DOID_10095 obo:IAO_0000115 "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:324.0"^^xsd:string, "NCI:C34734"^^xsd:string, "SNOMEDCT_US_2021_03_01:192738001"^^xsd:string, "UMLS_CUI:C0021874"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10095"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_10111 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital or acquired abnormality of vagina, with delivery"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10112 obo:IAO_0000115 "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B56"^^xsd:string, "ICD9CM:086.5"^^xsd:string, "KEGG:05143"^^xsd:string, "MESH:D014353"^^xsd:string, "NCI:C84541"^^xsd:string, "SNOMEDCT_US_2021_03_01:27031003"^^xsd:string, "UMLS_CUI:C0041228"^^xsd:string ; oboInOwl:hasExactSynonym "African sleeping sickness"@en, "African trypanosomiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10112"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "sleeping sickness"^^xsd:string ; rdfs:subClassOf obo:DOID_10113 . obo:DOID_10113 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B57.2"^^xsd:string, "ICD9CM:086"^^xsd:string, "MEDDRA:10044707"^^xsd:string, "MESH:D014352"^^xsd:string, "SNOMEDCT_US_2021_03_01:266205000"^^xsd:string, "UMLS_CUI:C0041227"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10113"^^xsd:string ; a owl:Class ; rdfs:label "trypanosomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5690 ] . obo:DOID_10114 obo:IAO_0000115 "A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems."^^xsd:string ; oboInOwl:hasExactSynonym "East African trypanosomiasis"@en, "Rhodesian sleeping sickness"@en, "Rhodesian trypanosomiasis"@en, "trypanosoma rhodesiense infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10114"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Trypanosoma brucei rhodesiense infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10116 obo:IAO_0000115 "A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems."^^xsd:string ; oboInOwl:hasExactSynonym "Gambian Trypanosomiasis"@en, "Gambian sleeping sickness"@en, "West African trypanosomiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10116"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Trypanosoma brucei gambiense infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10120 oboInOwl:hasDbXref "ICD9CM:374.50"^^xsd:string, "SNOMEDCT_US_2020_09_01:1112003"^^xsd:string, "UMLS_CUI:C0155209"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10120"^^xsd:string ; a owl:Class ; rdfs:comment "category only, removed[LS]"^^xsd:string ; rdfs:label "obsolete eyelid degenerative disease"^^xsd:string ; owl:deprecated true . obo:DOID_10121 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10121"^^xsd:string ; a owl:Class ; rdfs:label "obsolete degenerative disorder of eyelid and periocular area"^^xsd:string ; owl:deprecated true . obo:DOID_10122 obo:IAO_0000115 "An eyelid disease that is characterized by dark eyelids."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.71"^^xsd:string, "ICD9CM:374.52"^^xsd:string, "MESH:C562400"^^xsd:string, "OMIM:145100"^^xsd:string, "SNOMEDCT_US_2021_03_01:41115008"^^xsd:string, "UMLS_CUI:C0155211"^^xsd:string ; oboInOwl:hasExactSynonym "dark eyelids"^^xsd:string, "dyspigmentation of eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10122"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperpigmentation of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_10123, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_10123 obo:IAO_0000115 "A skin disease that is characterized by discoloration of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:709.09"^^xsd:string, "UMLS_CUI:C0375489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10123"^^xsd:string ; a owl:Class ; rdfs:label "pigmentation disease"^^xsd:string ; rdfs:subClassOf obo:DOID_37 . obo:DOID_10124 obo:IAO_0000115 "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:2284"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.9"^^xsd:string, "ICD9CM:371.9"^^xsd:string, "MESH:D003316"^^xsd:string, "NCI:C26731"^^xsd:string, "SNOMEDCT_US_2021_03_01:15250008"^^xsd:string, "UMLS_CUI:C0010034"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10124"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] ) ] . obo:DOID_10125 obo:IAO_0000115 "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:371.62"^^xsd:string, "SNOMEDCT_US_2021_03_01:111523009"^^xsd:string, "UMLS_CUI:C0339286"^^xsd:string ; oboInOwl:hasExactSynonym "Keratoconus, acute hydrops"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10125"^^xsd:string ; a owl:Class ; rdfs:label "acute hydrops keratoconus"^^xsd:string ; rdfs:subClassOf obo:DOID_10126 . obo:DOID_10126 obo:IAO_0000115 "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape."^^xsd:string ; oboInOwl:hasDbXref "GARD:6824"^^xsd:string, "ICD10CM:H18.6"^^xsd:string, "ICD9CM:371.6"^^xsd:string, "MESH:D007640"^^xsd:string, "NCI:C26806"^^xsd:string, "OMIM:148300"^^xsd:string, "OMIM:608586"^^xsd:string, "OMIM:608932"^^xsd:string, "OMIM:609271"^^xsd:string, "OMIM:614622"^^xsd:string, "OMIM:614623"^^xsd:string, "OMIM:614628"^^xsd:string, "OMIM:614629"^^xsd:string, "ORDO:156071"^^xsd:string, "SNOMEDCT_US_2021_03_01:267733008"^^xsd:string, "UMLS_CUI:C0022578"^^xsd:string ; oboInOwl:hasExactSynonym "conical cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10126"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "keratoconus"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_10127 obo:IAO_0000115 "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:434"^^xsd:string, "SNOMEDCT_US_2021_03_01:20059004"^^xsd:string, "UMLS_CUI:C0028790"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10127"^^xsd:string ; a owl:Class ; rdfs:label "cerebral artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_10128 obo:IAO_0000115 "A vein disease that is characterized by impaired flow of blood through the veins."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:459.81"^^xsd:string, "MESH:D014689"^^xsd:string, "NCI:C127822"^^xsd:string, "SNOMEDCT_US_2021_03_01:20696009"^^xsd:string, "UMLS_CUI:C0042485"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral venous insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10128"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "venous insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_866 . obo:DOID_10131 obo:IAO_0000115 "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F52.5"^^xsd:string, "ICD9CM:306.51"^^xsd:string, "NCI:C35113"^^xsd:string, "SNOMEDCT_US_2021_03_01:71787009"^^xsd:string, "UMLS_CUI:C0042266"^^xsd:string ; oboInOwl:hasExactSynonym "Functional vaginismus"@en, "Non-organic vaginismus"@en, "Psychogenic Vaginismus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10131"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "psychologic vaginismus"^^xsd:string ; rdfs:subClassOf obo:DOID_10132 . obo:DOID_10132 obo:IAO_0000115 "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:302.79"^^xsd:string, "UMLS_CUI:C0033951"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10132"^^xsd:string ; a owl:Class ; rdfs:label "psychosexual disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_10138 obo:IAO_0000115 "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E50.7"^^xsd:string, "ICD9CM:375.15"^^xsd:string, "MESH:D014985"^^xsd:string, "NCI:C34503"^^xsd:string, "SNOMEDCT_US_2021_03_01:193887002"^^xsd:string, "UMLS_CUI:C0043349"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival xerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "xerophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_10140 . obo:DOID_10139 oboInOwl:hasDbXref "ICD10CM:H11.10"^^xsd:string, "ICD9CM:372.50"^^xsd:string, "SNOMEDCT_US_2021_03_01:40787005"^^xsd:string, "UMLS_CUI:C0155160"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10139"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_4251, obo:DOID_9799 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9799 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] ) ] . obo:DOID_10140 obo:IAO_0000115 "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H04.12"^^xsd:string, "MESH:D015352"^^xsd:string, "NCI:C34553"^^xsd:string, "SNOMEDCT_US_2021_03_01:193980001"^^xsd:string, "UMLS_CUI:C0013238"^^xsd:string ; oboInOwl:hasExactSynonym "Tear film insufficiency"@en, "dry eye disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dry eye syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 ; skos:exactMatch "MESH:D015352"^^xsd:string . obo:DOID_10141 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10141"^^xsd:string ; a owl:Class ; rdfs:comment "doid/symp duplicate - moved to Symptom Ontology"^^xsd:string ; rdfs:label "obsolete asthenopia"^^xsd:string ; owl:deprecated true . obo:DOID_10142 oboInOwl:hasExactSynonym "venereal disease of peritoneum due to Chlamydia trachomatis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10142"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis peritonitis"^^xsd:string ; owl:deprecated true . obo:DOID_10144 oboInOwl:hasExactSynonym "metastatic tumor to the Thymus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10144"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm to the thymus"^^xsd:string ; owl:deprecated true . obo:DOID_10145 oboInOwl:hasExactSynonym "metastatic tumor to the mediastinum"@en, "secondary malignant neoplasm of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10145"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastases to mediastinum"^^xsd:string ; owl:deprecated true . obo:DOID_10146 oboInOwl:hasDbXref "NCI:C6451"^^xsd:string, "UMLS_CUI:C1336745"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10146"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thymus lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_3277, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10149 obo:IAO_0000115 "A bone cancer that is manifested in the long bones of the lower limb."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C40.2"^^xsd:string, "ICD9CM:170.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:187959005"^^xsd:string, "UMLS_CUI:C0153517"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of long bones of leg"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10149"^^xsd:string ; a owl:Class ; rdfs:label "long bones of lower limb cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_184 . obo:DOID_10150 obo:IAO_0000115 "A malignant neoplasm that is manifested in the lower limb."^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of lower limb"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of lower limb"@en ; oboInOwl:id "DOID:10150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lower limb cancer"^^xsd:string ; owl:deprecated true . obo:DOID_10151 obo:IAO_0000115 "A bone cancer that is located in the short bones of lower limbs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C40.3"^^xsd:string, "ICD9CM:170.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:94003005"^^xsd:string, "UMLS_CUI:C0153518"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of short bone of lower limb"@en, "malignant neoplasm of short bones of leg"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10151"^^xsd:string ; a owl:Class ; rdfs:label "malignant neoplasm of short bones of lower limb"^^xsd:string ; rdfs:subClassOf obo:DOID_184 . obo:DOID_10152 obo:IAO_0000115 "An ileum cancer originating from Meckel's diverticulum."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:152.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93890009"^^xsd:string, "UMLS_CUI:C0153429"^^xsd:string ; oboInOwl:hasExactSynonym "Meckel diverticulum cancer"@en, "malignant neoplasm of Meckel's diverticulum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10152"^^xsd:string ; a owl:Class ; rdfs:label "Meckel's diverticulum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10153 . obo:DOID_10153 obo:IAO_0000115 "A small intestine cancer that is located_in the ileum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C17.2"^^xsd:string, "ICD9CM:152.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93832004"^^xsd:string, "UMLS_CUI:C0153428"^^xsd:string ; oboInOwl:hasExactSynonym "ileal neoplasm"@en, "malignant neoplasm of ileum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10153"^^xsd:string ; oboInOwl:inSubset doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "ileum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10154 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002116 ] ) ] . obo:DOID_10154 obo:IAO_0000115 "An intestinal cancer that is located_in the small intestine."^^xsd:string ; oboInOwl:hasDbXref "GARD:9385"^^xsd:string, "ICD10CM:C17"^^xsd:string, "ICD9CM:152.9"^^xsd:string, "NCI:C7523"^^xsd:string, "SNOMEDCT_US_2021_03_01:363509000"^^xsd:string, "UMLS_CUI:C0153425"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10154"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "small intestine cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10155 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] ) ] . obo:DOID_10155 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the intestine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C26.0"^^xsd:string, "ICD9CM:159.0"^^xsd:string, "MESH:D007414"^^xsd:string, "NCI:C4572"^^xsd:string, "SNOMEDCT_US_2021_03_01:93838000"^^xsd:string, "UMLS_CUI:C0346627"^^xsd:string ; oboInOwl:hasExactSynonym "malignant intestinal tumors"@en, "malignant neoplasm of intestine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10155"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "intestinal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119, obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_10156 oboInOwl:hasDbXref "MESH:D007078"^^xsd:string, "NCI:C3130"^^xsd:string, "SNOMEDCT_US_2021_03_01:254576003"^^xsd:string, "UMLS_CUI:C0020876"^^xsd:string ; oboInOwl:hasExactSynonym "Ileal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ileal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_7505 . obo:DOID_10159 obo:IAO_0000115 "An ischemic bone disease that results_in necrosis located_in bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10160"^^xsd:string, "DOID:10161"^^xsd:string, "DOID:10162"^^xsd:string, "DOID:10163"^^xsd:string, "DOID:10164"^^xsd:string, "DOID:4128"^^xsd:string, "DOID:8380"^^xsd:string, "DOID:86"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M87"^^xsd:string, "ICD10CM:M87.9"^^xsd:string, "ICD9CM:732.3"^^xsd:string, "ICD9CM:733.41"^^xsd:string, "ICD9CM:733.42"^^xsd:string, "ICD9CM:733.43"^^xsd:string, "ICD9CM:733.44"^^xsd:string, "MESH:D010020"^^xsd:string, "NCI:C34404"^^xsd:string, "NCI:C34841"^^xsd:string, "NCI:C34880"^^xsd:string, "NCI:C35226"^^xsd:string, "NCI:C35517"^^xsd:string, "SNOMEDCT_US_2021_03_01:156837008"^^xsd:string, "SNOMEDCT_US_2021_03_01:17926002"^^xsd:string, "SNOMEDCT_US_2021_03_01:240196003"^^xsd:string, "SNOMEDCT_US_2021_03_01:29281007"^^xsd:string, "SNOMEDCT_US_2021_03_01:43453000"^^xsd:string, "SNOMEDCT_US_2021_03_01:62100001"^^xsd:string, "SNOMEDCT_US_2021_03_01:83453001"^^xsd:string, "UMLS_CUI:C0003977"^^xsd:string, "UMLS_CUI:C0027543"^^xsd:string, "UMLS_CUI:C0029445"^^xsd:string, "UMLS_CUI:C0158442"^^xsd:string, "UMLS_CUI:C0158449"^^xsd:string, "UMLS_CUI:C0158450"^^xsd:string, "UMLS_CUI:C0158451"^^xsd:string, "UMLS_CUI:C0745048"^^xsd:string ; oboInOwl:hasExactSynonym "Avascular necrosis of bone"@en, "aseptic necrosis"@en, "bone necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10159"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteonecrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080008, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_1016 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1016"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_10173 oboInOwl:hasAlternativeId "DOID:6356"^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculous abscess of spinal cord"@en, "tuberculoma of spinal cord"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10173"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete tuberculous myelitis"^^xsd:string ; owl:deprecated true . obo:DOID_10174 oboInOwl:hasDbXref "ICD10CM:H04.81"^^xsd:string, "ICD9CM:375.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:194001006"^^xsd:string, "UMLS_CUI:C0155253"^^xsd:string ; oboInOwl:hasExactSynonym "Granuloma of lacrimal passages"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10174"^^xsd:string ; a owl:Class ; rdfs:label "lacrimal passage granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1400 . obo:DOID_10175 oboInOwl:hasDbXref "ICD10CM:H35.81"^^xsd:string, "ICD10CM:H47.1"^^xsd:string, "ICD10CM:H47.11"^^xsd:string, "ICD9CM:362.83"^^xsd:string, "ICD9CM:377.0"^^xsd:string, "ICD9CM:377.01"^^xsd:string, "MESH:D010211"^^xsd:string, "NCI:C3307"^^xsd:string, "SNOMEDCT_US_2021_03_01:3170006"^^xsd:string, "SNOMEDCT_US_2021_03_01:423341008"^^xsd:string, "SNOMEDCT_US_2021_03_01:6141006"^^xsd:string, "UMLS_CUI:C0030353"^^xsd:string, "UMLS_CUI:C0155288"^^xsd:string, "UMLS_CUI:C0242420"^^xsd:string, "UMLS_CUI:C0919308"^^xsd:string ; oboInOwl:hasExactSynonym "papillitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic papillitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1210 . obo:DOID_10176 oboInOwl:hasDbXref "ICD10CM:H30.9"^^xsd:string, "MESH:D012173"^^xsd:string, "SNOMEDCT_US_2021_03_01:410471004"^^xsd:string, "UMLS_CUI:C0154874"^^xsd:string ; oboInOwl:hasExactSynonym "Focal retinitis and retinochoroiditis, juxtapapillary"@en, "Juxtapapillary focal retinitis AND retinochoroiditis"@en, "Papilloretinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10176"^^xsd:string ; a owl:Class ; rdfs:label "neuroretinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_10177 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:65443008"^^xsd:string, "UMLS_CUI:C0155593"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10177"^^xsd:string ; a owl:Class ; rdfs:label "malignant hypertensive renal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1073, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_10182 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10182"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetic peripheral angiopathy"^^xsd:string ; owl:deprecated true . obo:DOID_10183 obo:IAO_0000115 "A lipoma that is located within the lumen of a bronchus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5063"^^xsd:string, "UMLS_CUI:C0852937"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10183"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endobronchial lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315, obo:DOID_3906, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10184 obo:IAO_0000115 "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4254"^^xsd:string, "SNOMEDCT_US_2021_03_01:404058008"^^xsd:string, "UMLS_CUI:C0334474"^^xsd:string ; oboInOwl:hasExactSynonym "spindle cell Lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10184"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spindle cell lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10187 obo:IAO_0000115 "A lipoma located in the esophagus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5701"^^xsd:string, "UMLS_CUI:C1333455"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10187"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050624, obo:DOID_3315, obo:DOID_6050, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] . obo:DOID_10188 obo:IAO_0000115 "A skin benign neoplasm that derives_from fat cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10198"^^xsd:string, "DOID:3943"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:214.0"^^xsd:string, "NCI:C4616"^^xsd:string, "NCI:C5566"^^xsd:string, "SNOMEDCT_US_2021_03_01:255187008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93159009"^^xsd:string, "UMLS_CUI:C0153968"^^xsd:string, "UMLS_CUI:C0347394"^^xsd:string, "UMLS_CUI:C1333174"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Lipoma"@en, "Lipoma of skin"@en, "cutaneous lipomatous tumor"@en, "lipoma of face"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10188"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "skin lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3165, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_1019 obo:IAO_0000115 "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1018"^^xsd:string, "DOID:1020"^^xsd:string, "DOID:10281"^^xsd:string, "DOID:10282"^^xsd:string, "DOID:10692"^^xsd:string, "DOID:10860"^^xsd:string, "DOID:1164"^^xsd:string, "DOID:11788"^^xsd:string, "DOID:11959"^^xsd:string, "DOID:12011"^^xsd:string, "DOID:13673"^^xsd:string, "DOID:13674"^^xsd:string, "DOID:13675"^^xsd:string, "DOID:13678"^^xsd:string, "DOID:13684"^^xsd:string, "DOID:13737"^^xsd:string, "DOID:14003"^^xsd:string, "DOID:14100"^^xsd:string, "DOID:14166"^^xsd:string, "DOID:2249"^^xsd:string, "DOID:2250"^^xsd:string, "DOID:5858"^^xsd:string, "DOID:9456"^^xsd:string ; oboInOwl:hasDbXref "GARD:7286"^^xsd:string, "ICD9CM:730.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:203181001"^^xsd:string, "UMLS_CUI:C0008707"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1019"^^xsd:string ; a owl:Class ; rdfs:label "osteomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117, obo:DOID_3342, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_10239 obo:NCBITaxon_2 obo:NCBITaxon_2759 ) ] ] . obo:DOID_10190 obo:IAO_0000115 "A lipoma located in the liver."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5750"^^xsd:string, "UMLS_CUI:C1333970"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Liver"@en, "hepatic lipoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10190"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "liver lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315, obo:DOID_916, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10191 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10191"^^xsd:string ; a owl:Class ; rdfs:label "obsolete autosomal deletion syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_10192 obo:IAO_0000115 "A lipoma that is characterized by floret giant cells with overlapping nuclei."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008067"^^xsd:string, "NCI:C3703"^^xsd:string, "SNOMEDCT_US_2021_03_01:189783001"^^xsd:string, "UMLS_CUI:C0205823"^^xsd:string ; oboInOwl:hasExactSynonym "Pleomorphic Lipoma"@en, "Pleomorphic lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleomorphic lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10193 obo:IAO_0000115 "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27530"^^xsd:string, "UMLS_CUI:C1333059"^^xsd:string ; oboInOwl:hasExactSynonym "classic type lipoma"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10193"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conventional lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10194 obo:IAO_0000115 "A lipoma that is located in the kidney."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5101"^^xsd:string, "UMLS_CUI:C1335744"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10194"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kidney lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3116, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10195 obo:IAO_0000115 "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6644"^^xsd:string, "SNOMEDCT_US_2021_03_01:2460001000004103"^^xsd:string, "UMLS_CUI:C1335434"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of Pleura"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pleural lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050621, obo:DOID_1532, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] . obo:DOID_10199 obo:IAO_0000115 "A breast benign neoplasm that is composed of lipocytes."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4647"^^xsd:string, "SNOMEDCT_US_2021_03_01:276891009"^^xsd:string, "UMLS_CUI:C0349565"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10199"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10200 obo:IAO_0000115 "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6719"^^xsd:string, "SNOMEDCT_US_2021_03_01:448270009"^^xsd:string, "UMLS_CUI:C1332932"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the Chest Wall"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chest wall lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060097, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016435 ] . obo:DOID_10201 obo:IAO_0000115 "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5835"^^xsd:string, "UMLS_CUI:C1333747"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gallbladder lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080640, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002110 ] . obo:DOID_10202 oboInOwl:hasExactSynonym "Lipoma of intrathoracic organs (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10202"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lipoma of intrathoracic organ"^^xsd:string ; owl:deprecated true . obo:DOID_10203 oboInOwl:hasDbXref "NCI:C4618"^^xsd:string, "SNOMEDCT_US_2021_03_01:188988008"^^xsd:string, "UMLS_CUI:C0347423"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of external auditory meatus"@en, "Lipoma of the External ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "external auditory meatus lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080619, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001352 ] . obo:DOID_10204 oboInOwl:hasExactSynonym "Lipoma of intra-abdominal organs (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10204"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lipoma of intra-abdominal organ"^^xsd:string ; owl:deprecated true . obo:DOID_10205 obo:IAO_0000115 "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35419"^^xsd:string, "SNOMEDCT_US_2021_03_01:188993006"^^xsd:string, "UMLS_CUI:C0347429"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of axilla"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "axillary lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060097, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10206 obo:IAO_0000115 "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:214.4"^^xsd:string, "NCI:C3606"^^xsd:string, "SNOMEDCT_US_2021_03_01:93162007"^^xsd:string, "UMLS_CUI:C0153972"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of spermatic cord"@en, "Spermatic Cord Lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10206"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoma of spermatic cord"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_10207, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000079 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005352 ] . obo:DOID_10207 obo:IAO_0000115 "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6384"^^xsd:string, "UMLS_CUI:C1335348"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10207"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paratesticular lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050622, obo:DOID_3315, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ] . obo:DOID_10208 obo:IAO_0000115 "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6503"^^xsd:string, "SNOMEDCT_US_2021_03_01:404065000"^^xsd:string, "UMLS_CUI:C1266131"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10208"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chondroid lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_3315 . obo:DOID_10209 obo:IAO_0000115 "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5854"^^xsd:string, "UMLS_CUI:C1333509"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoma of the extrahepatic bile duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10209"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "extrahepatic bile duct lipoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050625, obo:DOID_3315, obo:DOID_4138, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000136 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003703 ] . obo:DOID_10210 oboInOwl:hasAlternativeId "DOID:10212"^^xsd:string ; oboInOwl:hasExactSynonym "calculus of gallbladder and bile duct without cholecystitis, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10210"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of gallbladder and bile duct without cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_10211 oboInOwl:hasDbXref "EFO:0004799"^^xsd:string, "ICD9CM:574.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:197397004"^^xsd:string, "UMLS_CUI:C0006739"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10211"^^xsd:string ; a owl:Class ; rdfs:label "cholelithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_1022 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1021"^^xsd:string, "DOID:10490"^^xsd:string, "DOID:1813"^^xsd:string, "DOID:3573"^^xsd:string ; oboInOwl:hasDbXref "GARD:7397"^^xsd:string, "ICD10CM:A67.0"^^xsd:string, "ICD10CM:A67.1"^^xsd:string, "ICD10CM:A67.2"^^xsd:string, "ICD10CM:A67.3"^^xsd:string, "ICD10CM:A67.9"^^xsd:string, "ICD9CM:103"^^xsd:string, "ICD9CM:103.0"^^xsd:string, "ICD9CM:103.1"^^xsd:string, "ICD9CM:103.2"^^xsd:string, "ICD9CM:103.3"^^xsd:string, "MESH:D010874"^^xsd:string, "NCI:C85011"^^xsd:string, "SNOMEDCT_US_2021_03_01:22064009"^^xsd:string, "SNOMEDCT_US_2021_03_01:240685007"^^xsd:string, "SNOMEDCT_US_2021_03_01:4669001"^^xsd:string, "SNOMEDCT_US_2021_03_01:68202005"^^xsd:string, "SNOMEDCT_US_2021_03_01:73594001"^^xsd:string, "UMLS_CUI:C0031946"^^xsd:string, "UMLS_CUI:C0153241"^^xsd:string, "UMLS_CUI:C0153242"^^xsd:string, "UMLS_CUI:C0153243"^^xsd:string, "UMLS_CUI:C0153244"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1022"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pinta disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_10220 oboInOwl:hasAlternativeId "DOID:10221"^^xsd:string ; oboInOwl:hasExactSynonym "Failed mechanical induction of labor, antepartum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10220"^^xsd:string ; a owl:Class ; rdfs:label "obsolete failed induction"^^xsd:string ; owl:deprecated true . obo:DOID_10222 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10222"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polymyositis"^^xsd:string ; owl:deprecated true . obo:DOID_10223 obo:IAO_0000115 "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction."^^xsd:string ; oboInOwl:hasDbXref "GARD:6263"^^xsd:string, "ICD10CM:M33"^^xsd:string, "ICD9CM:710.3"^^xsd:string, "MESH:D003882"^^xsd:string, "NCI:C26744"^^xsd:string, "SNOMEDCT_US_2021_03_01:38826005"^^xsd:string, "UMLS_CUI:C0011633"^^xsd:string ; oboInOwl:hasExactSynonym "Polymyositis with skin involvement"@en, "dermatopolymyositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Amyopathic dermatomyositis"^^xsd:string, "Amyopathic dermatomyositis"@en ; oboInOwl:id "DOID:10223"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:C538250 added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "dermatomyositis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_633, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_633 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] ) ] . obo:DOID_10226 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10226"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single episode manic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10229 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10229"^^xsd:string ; a owl:Class ; rdfs:label "obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_1023 obo:IAO_0000115 "A leprosy that results in small numerous red irregularly shaped plaques."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.3"^^xsd:string, "ICD9CM:030.3"^^xsd:string, "MESH:D015439"^^xsd:string, "SNOMEDCT_US_2021_03_01:50521002"^^xsd:string, "UMLS_CUI:C0023346"^^xsd:string ; oboInOwl:hasExactSynonym "Borderline leprosy"@en, "Borderline or dimorphous leprosy"@en, "Midborderline leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1023"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "borderline leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_10230 oboInOwl:hasDbXref "ICD10CM:I70.0"^^xsd:string, "ICD9CM:440.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:81817003"^^xsd:string, "UMLS_CUI:C0155733"^^xsd:string ; oboInOwl:hasExactSynonym "Aortic atherosclerosis"@en, "Atherosclerosis of aorta"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10230"^^xsd:string ; a owl:Class ; rdfs:label "aortic atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1936 . obo:DOID_10233 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma capsulatum with pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10233"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_10234 oboInOwl:hasDbXref "ICD9CM:115.93"^^xsd:string, "SNOMEDCT_US_2021_03_01:187059008"^^xsd:string, "UMLS_CUI:C0153279"^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasmosis with pericarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10234"^^xsd:string ; a owl:Class ; rdfs:label "histoplasmosis pericarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_1787 . obo:DOID_10235 oboInOwl:hasDbXref "GARD:5963"^^xsd:string, "ICD10CM:H50.61"^^xsd:string, "ICD9CM:378.61"^^xsd:string, "MESH:D015835"^^xsd:string, "SNOMEDCT_US_2021_03_01:35929003"^^xsd:string, "UMLS_CUI:C0155339"^^xsd:string ; oboInOwl:hasExactSynonym "Brown tendon sheath syndrome"@en, "Brown's (tendon) sheath syndrome"@en, "Brown's sheath syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10235"^^xsd:string ; a owl:Class ; rdfs:label "Brown's tendon sheath syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_9306 . obo:DOID_10236 oboInOwl:hasDbXref "ICD10CM:F65.2"^^xsd:string, "ICD9CM:302.4"^^xsd:string, "MESH:D005084"^^xsd:string, "NCI:C94352"^^xsd:string, "SNOMEDCT_US_2021_03_01:192514003"^^xsd:string, "UMLS_CUI:C0015269"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10236"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exhibitionism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_10237 obo:IAO_0000115 "A malignant neoplasm that is manifested in the pelvic region."^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of pelvis (disorder)"@en, "pelvis neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10237"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pelvic cancer"^^xsd:string ; owl:deprecated true . obo:DOID_10238 oboInOwl:hasExactSynonym "malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)"@en, "malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)"@en, "malignant neoplasm of rectum, rectosigmoid junction, and anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of rectum, rectosigmoid junction and anus"^^xsd:string ; owl:deprecated true . obo:DOID_10239 oboInOwl:hasExactSynonym "Ca pelvic bones/sacrum/coccyx"@en, "Ca pelvic bones/sacrum/coccyx (disorder)"@en, "malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)"@en, "malignant neoplasm of pelvic bones, sacrum, and coccyx"@en, "malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of pelvic bones, sacrum and coccyx"^^xsd:string ; owl:deprecated true . obo:DOID_1024 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001054"^^xsd:string, "GARD:6886"^^xsd:string, "ICD10CM:A30"^^xsd:string, "ICD9CM:030"^^xsd:string, "MESH:D007918"^^xsd:string, "NCI:C84824"^^xsd:string, "OMIM:607572"^^xsd:string, "OMIM:609888"^^xsd:string, "OMIM:613407"^^xsd:string, "ORDO:548"^^xsd:string, "SNOMEDCT_US_2021_03_01:154298007"^^xsd:string, "UMLS_CUI:C0023343"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1024"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1769 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000010 obo:UBERON_0000473 obo:UBERON_0000970 obo:UBERON_0001557 ) ] ] . obo:DOID_10240 oboInOwl:hasExactSynonym "malignant neoplasm of pelvis NOS (disorder)"@en, "malignant neoplasm of pelvis, NOS"@en, "malignant tumor of pelvis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10240"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of pelvis"^^xsd:string ; owl:deprecated true . obo:DOID_10241 obo:IAO_0000115 "A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12242"^^xsd:string, "DOID:12243"^^xsd:string ; oboInOwl:hasDbXref "GARD:7756"^^xsd:string, "ICD10CM:D56"^^xsd:string, "ICD9CM:282.4"^^xsd:string, "MESH:D013789"^^xsd:string, "NCI:C35069"^^xsd:string, "SNOMEDCT_US_2021_03_01:191192008"^^xsd:string, "UMLS_CUI:C0039730"^^xsd:string ; oboInOwl:hasExactSynonym "Sickle-cell thalassemia with crisis"@en, "Sickle-cell thalassemia without crisis"@en, "thalassemia Hb-S disease with crisis"@en, "thalassemia Hb-S disease without crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10241"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_583, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_10242 obo:IAO_0000115 "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050023"^^xsd:string ; oboInOwl:hasDbXref "GARD:2092"^^xsd:string, "ICD10CM:A77.4"^^xsd:string, "ICD9CM:082.4"^^xsd:string, "MESH:D016873"^^xsd:string, "SNOMEDCT_US_2021_03_01:77361002"^^xsd:string, "UMLS_CUI:C0085399"^^xsd:string ; oboInOwl:hasExactSynonym "human ehrlichiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10242"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "ehrlichiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_945 obo:NCBITaxon_948 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] ; skos:exactMatch "MESH:D016873"^^xsd:string . obo:DOID_10245 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete delayed separation of umbilical cord"^^xsd:string ; owl:deprecated true . obo:DOID_10247 obo:IAO_0000115 "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:511.8"^^xsd:string, "UMLS_CUI:C0029799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10247"^^xsd:string ; a owl:Class ; rdfs:label "pleurisy"^^xsd:string ; rdfs:subClassOf obo:DOID_1532 . obo:DOID_1025 obo:IAO_0000115 "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.1"^^xsd:string, "ICD9CM:030.1"^^xsd:string, "MESH:D015441"^^xsd:string, "SNOMEDCT_US_2021_03_01:70143003"^^xsd:string, "UMLS_CUI:C0023351"^^xsd:string ; oboInOwl:hasExactSynonym "Smooth leprosy"@en, "Tuberculoid leprosy"@en, "type T leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1025"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculoid leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_10250 obo:IAO_0000115 "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A84.89"^^xsd:string, "ICD9CM:063.1"^^xsd:string, "MESH:D008146"^^xsd:string, "SNOMEDCT_US_2021_03_01:59350003"^^xsd:string, "UMLS_CUI:C0024025"^^xsd:string ; oboInOwl:hasExactSynonym "Louping ill"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10250"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "louping ill"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11086 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34613 ] . obo:DOID_10254 oboInOwl:hasDbXref "ICD10CM:K82.4"^^xsd:string, "ICD9CM:575.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:61565001"^^xsd:string, "UMLS_CUI:C0152456"^^xsd:string ; oboInOwl:hasExactSynonym "Cholesterolosis of gallbladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10254"^^xsd:string ; a owl:Class ; rdfs:label "strawberry gallbladder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_10255 oboInOwl:hasExactSynonym "Conjunctival degenerations and deposits (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete conjunctival degenerations and deposits"^^xsd:string ; owl:deprecated true . obo:DOID_10256 oboInOwl:hasExactSynonym "vitamin A deficiency with conjunctival xerosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10256"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with conjunctival xerosis"^^xsd:string ; owl:deprecated true . obo:DOID_10257 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_10261 oboInOwl:hasDbXref "ICD10CM:H92.1"^^xsd:string, "ICD9CM:388.6"^^xsd:string, "NCI:C35199"^^xsd:string, "SNOMEDCT_US_2021_03_01:300132001"^^xsd:string, "UMLS_CUI:C0155540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10261"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "discharging ear"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_10263 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps hepatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10263"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus hepatitis"^^xsd:string ; owl:deprecated true . obo:DOID_10264 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face."^^xsd:string ; oboInOwl:hasDbXref "GARD:7116"^^xsd:string, "ICD10CM:B26"^^xsd:string, "ICD9CM:072"^^xsd:string, "MESH:D009107"^^xsd:string, "NCI:C29888"^^xsd:string, "SNOMEDCT_US_2021_03_01:154352008"^^xsd:string, "UMLS_CUI:C0026780"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10264"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mumps"^^xsd:string ; rdfs:subClassOf obo:DOID_10854, obo:DOID_10883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2560602 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000008 obo:TRANS_0000011 ) ] ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_934 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001044 ] ) ] . obo:DOID_10265 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10265"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hairy cell leukemia of spleen"^^xsd:string ; owl:deprecated true . obo:DOID_10266 oboInOwl:hasDbXref "ICD9CM:410.7"^^xsd:string, "UMLS_CUI:C0155655"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10266"^^xsd:string ; a owl:Class ; rdfs:label "subendocardial infarction acute myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10272 oboInOwl:hasDbXref "ICD10CM:I44.60"^^xsd:string, "ICD9CM:426.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:266245009"^^xsd:string, "UMLS_CUI:C0155702"^^xsd:string ; oboInOwl:hasExactSynonym "Left bundle branch block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10272"^^xsd:string ; a owl:Class ; rdfs:label "left bundle branch hemiblock"^^xsd:string ; rdfs:subClassOf obo:DOID_10273 . obo:DOID_10273 obo:IAO_0000115 "A cardiovascular system disease that involves the heart's electrical conduction system."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:426.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:195053008"^^xsd:string, "UMLS_CUI:C0029630"^^xsd:string ; oboInOwl:hasExactSynonym "heart rhythm disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10273"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "heart conduction disease"^^xsd:string ; rdfs:subClassOf obo:DOID_114 . obo:DOID_10274 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizo-affective type schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_10277 obo:IAO_0000115 "A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infection due to Pseudomonas (disorder)"@en, "intestinal infectious disease due to pseudomonas"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10277"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pseudomonas intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10278 oboInOwl:hasExactSynonym "Vasa previa complicating labor and delivery, unspecified as to episode of care"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10278"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Vasa previa complicating labor and delivery"^^xsd:string ; owl:deprecated true . obo:DOID_10279 oboInOwl:hasExactSynonym "Vasa praevia"@en, "Vasa previa (disorder)"@en, "Vasa previa NOS (disorder)"@en, "Vasa previa complicating labor and delivery, antepartum"@en, "Vasa previa unspecified (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10279"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Vasa previa"^^xsd:string ; owl:deprecated true . obo:DOID_10280 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10280"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Vasa previa complicating labor and delivery, delivered"^^xsd:string ; owl:deprecated true . obo:DOID_10283 obo:IAO_0000115 "A male reproductive organ cancer that is located_in the prostate."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:514"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C61"^^xsd:string, "ICD9CM:185"^^xsd:string, "KEGG:05215"^^xsd:string, "MESH:D011471"^^xsd:string, "NCI:C3343"^^xsd:string, "NCI:C7378"^^xsd:string, "OMIM:176807"^^xsd:string, "OMIM:300147"^^xsd:string, "OMIM:300704"^^xsd:string, "OMIM:601518"^^xsd:string, "OMIM:602759"^^xsd:string, "OMIM:608656"^^xsd:string, "OMIM:608658"^^xsd:string, "OMIM:609299"^^xsd:string, "OMIM:609558"^^xsd:string, "OMIM:610321"^^xsd:string, "OMIM:610997"^^xsd:string, "OMIM:611100"^^xsd:string, "OMIM:611868"^^xsd:string, "OMIM:611928"^^xsd:string, "OMIM:611955"^^xsd:string, "OMIM:611958"^^xsd:string, "OMIM:611959"^^xsd:string, "ORDO:1331"^^xsd:string, "SNOMEDCT_US_2021_03_01:126906006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93974005"^^xsd:string, "UMLS_CUI:C0033578"^^xsd:string, "UMLS_CUI:C0376358"^^xsd:string ; oboInOwl:hasExactSynonym "NGP - new growth of prostate"@en, "hereditary prostate cancer"@en, "malignant tumor of the prostate"@en, "prostate cancer, familial"@en, "prostate neoplasm"@en, "prostatic cancer"@en, "prostatic neoplasm"@en, "tumor of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10283"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "prostate cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3856, obo:DOID_47 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] ) ] . obo:DOID_10286 obo:IAO_0000115 "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001663"^^xsd:string, "KEGG:05215"^^xsd:string, "NCI:C4863"^^xsd:string, "SNOMEDCT_US_2021_03_01:254900004"^^xsd:string, "UMLS_CUI:C0600139"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of prostate"@en, "carcinoma of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10286"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10283, obo:DOID_305, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002367 ] . obo:DOID_10287 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the prostate."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5536"^^xsd:string, "SNOMEDCT_US_2021_03_01:399590005"^^xsd:string, "UMLS_CUI:C1302530"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10287"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10286, obo:DOID_1749, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_10288 oboInOwl:hasExactSynonym "metastatic neoplasm to the prostate"@en, "secondary malignant neoplasm of prostate (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10288"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to prostate"^^xsd:string ; owl:deprecated true . obo:DOID_10289 oboInOwl:hasDbXref "MESH:C549759"^^xsd:string, "NCI:C5531"^^xsd:string, "UMLS_CUI:C1334615"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Phyllodes neoplasm of the prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10289"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate malignant phyllodes tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10283 . obo:DOID_1029 oboInOwl:hasDbXref "GARD:6422"^^xsd:string, "ICD10CM:G72.3"^^xsd:string, "MESH:D010245"^^xsd:string, "NCI:C84709"^^xsd:string, "SNOMEDCT_US_2021_03_01:193241004"^^xsd:string, "UMLS_CUI:C0030443"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1029"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial periodic paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_896 . obo:DOID_10290 oboInOwl:hasDbXref "NCI:C5533"^^xsd:string, "UMLS_CUI:C1335512"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the prostate"@en, "lymphoma of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10290"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prostate lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_10283, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10293 oboInOwl:hasDbXref "ICD10CM:H50.01"^^xsd:string, "ICD9CM:378.01"^^xsd:string, "MESH:D004948"^^xsd:string, "SNOMEDCT_US_2021_03_01:194075001"^^xsd:string, "UMLS_CUI:C0152204"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10293"^^xsd:string ; a owl:Class ; rdfs:label "monocular esotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_9840 . obo:DOID_10294 oboInOwl:hasExactSynonym "Intermittent esotropia, monocular"@en, "Intermittent monocular esotropia (disorder)"@en, "Monocular intermittent esotropia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10294"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intermittent monocular esotropia"^^xsd:string ; owl:deprecated true . obo:DOID_10295 oboInOwl:hasExactSynonym "Monocular esotropia with A pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10295"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular esotropia with A pattern"^^xsd:string ; owl:deprecated true . obo:DOID_10296 oboInOwl:hasExactSynonym "Monocular esotropia with V pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10296"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular esotropia with V pattern"^^xsd:string ; owl:deprecated true . obo:DOID_10300 oboInOwl:hasDbXref "ICD10CM:I73.0"^^xsd:string, "MESH:D011928"^^xsd:string, "OMIM:179600"^^xsd:string, "SNOMEDCT_US_2021_03_01:195295006"^^xsd:string, "UMLS_CUI:C0034734"^^xsd:string ; oboInOwl:hasExactSynonym "Raynaud's disease"@en, "Raynaud's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10300"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Raynaud disease"^^xsd:string ; rdfs:subClassOf obo:DOID_341 ; skos:exactMatch "MESH:D011928"^^xsd:string . obo:DOID_10301 obo:IAO_0000115 "A parotid disease characterized by the inflammation of one or both parotid glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K11.2"^^xsd:string, "MESH:D010309"^^xsd:string, "NCI:C114281"^^xsd:string, "SNOMEDCT_US_2021_03_01:196481002"^^xsd:string, "UMLS_CUI:C0030583"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10301"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parotitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10302, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; skos:exactMatch "MESH:D010309"^^xsd:string . obo:DOID_10302 oboInOwl:hasDbXref "MESH:D010305"^^xsd:string, "UMLS_CUI:C0030579"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10302"^^xsd:string ; a owl:Class ; rdfs:label "parotid disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001831 ] ) ] . obo:DOID_10303 oboInOwl:hasDbXref "GARD:7638"^^xsd:string, "ICD10CM:K11.2"^^xsd:string, "ICD9CM:527.2"^^xsd:string, "MESH:D012793"^^xsd:string, "NCI:C26882"^^xsd:string, "SNOMEDCT_US_2021_03_01:42982001"^^xsd:string, "UMLS_CUI:C0037023"^^xsd:string ; oboInOwl:hasExactSynonym "Sialoadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10303"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sialadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10854, obo:DOID_1602 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1602 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_2005036 ] ) ] . obo:DOID_10304 obo:IAO_0000115 "A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person."^^xsd:string ; oboInOwl:hasExactSynonym "Rubulavirus infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10304"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10305 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps orchitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10305"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus orchitis"^^xsd:string ; owl:deprecated true . obo:DOID_10307 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps polyneuropathy (disorder)"@en, "Polyneuropathy in mumps (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10307"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus polyneuritis"^^xsd:string ; owl:deprecated true . obo:DOID_10309 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10309"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10310 obo:IAO_0000115 "A meningitis that has_material_basis_in a viral infection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A87"^^xsd:string, "ICD9CM:047.9"^^xsd:string, "MESH:D008587"^^xsd:string, "NCI:C118298"^^xsd:string, "SNOMEDCT_US_2021_03_01:154321007"^^xsd:string, "UMLS_CUI:C0025297"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10310"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "viral meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_9471, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ] . obo:DOID_10311 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps encephalitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10311"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus encephalitis"^^xsd:string ; owl:deprecated true . obo:DOID_10312 obo:IAO_0000115 "A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "Mumps pancreatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10312"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mumps virus pancreatitis"^^xsd:string ; owl:deprecated true . obo:DOID_10314 obo:IAO_0000115 "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14058"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I33.9"^^xsd:string, "ICD9CM:421.9"^^xsd:string, "MESH:D004696"^^xsd:string, "NCI:C34582"^^xsd:string, "NCI:C35432"^^xsd:string, "SNOMEDCT_US_2021_03_01:56819008"^^xsd:string, "SNOMEDCT_US_2021_03_01:91357005"^^xsd:string, "UMLS_CUI:C0014118"^^xsd:string, "UMLS_CUI:C0375268"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10314"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050825, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10316 obo:IAO_0000115 "An interstitial lung disease that is caused by the inhalation of dust."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J64"^^xsd:string, "ICD9CM:505"^^xsd:string, "MESH:D011009"^^xsd:string, "NCI:C26861"^^xsd:string, "SNOMEDCT_US_2021_03_01:196004000"^^xsd:string, "UMLS_CUI:C0032273"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10316"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3082, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0006530 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_10319 oboInOwl:hasDbXref "NCI:C27559"^^xsd:string, "SNOMEDCT_US_2021_03_01:233759002"^^xsd:string, "UMLS_CUI:C0340184"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10319"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed mineral dust pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10320 obo:IAO_0000115 "A pneumoconiosis caused by inhalation and retention of asbestos fibers."^^xsd:string ; oboInOwl:hasDbXref "GARD:5852"^^xsd:string, "ICD10CM:J61"^^xsd:string, "ICD9CM:501"^^xsd:string, "MESH:D001195"^^xsd:string, "NCI:C84573"^^xsd:string, "SNOMEDCT_US_2021_03_01:266400008"^^xsd:string, "UMLS_CUI:C0003949"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10320"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "asbestosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10321 oboInOwl:hasDbXref "GARD:8371"^^xsd:string, "MESH:C537080"^^xsd:string, "NCI:C34410"^^xsd:string, "SNOMEDCT_US_2021_03_01:50076003"^^xsd:string, "UMLS_CUI:C0340177"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10321"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "baritosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10322 obo:IAO_0000115 "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J63.2"^^xsd:string, "MESH:D001607"^^xsd:string, "SNOMEDCT_US_2021_03_01:8247009"^^xsd:string, "UMLS_CUI:C0005138"^^xsd:string ; oboInOwl:hasExactSynonym "beryllium poisoning"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10322"^^xsd:string ; a owl:Class ; rdfs:label "berylliosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060496, obo:DOID_10316, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000065 ] . obo:DOID_10323 oboInOwl:hasDbXref "GARD:5976"^^xsd:string, "ICD10CM:J66.0"^^xsd:string, "MESH:D002095"^^xsd:string, "NCI:C84605"^^xsd:string, "SNOMEDCT_US_2021_03_01:155589004"^^xsd:string, "UMLS_CUI:C0006542"^^xsd:string ; oboInOwl:hasExactSynonym "Flax-dressers' disease"@en, "Stripper's asthma"@en, "cotton mill fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10323"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "byssinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10324 oboInOwl:hasDbXref "ICD10CM:J60"^^xsd:string, "MESH:D000874"^^xsd:string, "NCI:C34389"^^xsd:string, "SNOMEDCT_US_2021_03_01:33548005"^^xsd:string, "UMLS_CUI:C0003164"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10324"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anthracosilicosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10325 obo:IAO_0000115 "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14007"^^xsd:string ; oboInOwl:hasDbXref "GARD:7647"^^xsd:string, "ICD10CM:J62.8"^^xsd:string, "ICD9CM:502"^^xsd:string, "MESH:D012829"^^xsd:string, "NCI:C3369"^^xsd:string, "SNOMEDCT_US_2021_03_01:155590008"^^xsd:string, "UMLS_CUI:C0037116"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumoconiosis due to silicates"@en, "Silica pneumoconiosis"@en, "Silicotic fibrosis of lung"@en, "silicotuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10325"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "silicosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10326 obo:IAO_0000115 "A pneumoconiosis that results_in humans that also have rheumatoid arthritis."^^xsd:string ; oboInOwl:hasDbXref "MESH:D002205"^^xsd:string, "SNOMEDCT_US_2021_03_01:111280008"^^xsd:string, "UMLS_CUI:C0006915"^^xsd:string ; oboInOwl:hasExactSynonym "Caplan syndrome"@en, "Caplan's disease"@en, "Caplans syndrome"@en, "Rheumatoid pneumoconiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10326"^^xsd:string ; a owl:Class ; rdfs:label "Caplan's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10327 oboInOwl:hasDbXref "ICD10CM:J60"^^xsd:string, "ICD9CM:500"^^xsd:string, "MESH:D055008"^^xsd:string, "NCI:C34390"^^xsd:string, "SNOMEDCT_US_2021_03_01:29422001"^^xsd:string, "UMLS_CUI:C0003165"^^xsd:string ; oboInOwl:hasExactSynonym "Coal Miner's Pneumoconiosis"@en, "Coal workers' lung"@en, "Coal workers' pneumoconiosis"@en, "Melanoedema"@en, "black lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10327"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anthracosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10328 oboInOwl:hasDbXref "GARD:7645"^^xsd:string, "ICD10CM:J63.4"^^xsd:string, "MESH:D012806"^^xsd:string, "SNOMEDCT_US_2021_03_01:155591007"^^xsd:string, "UMLS_CUI:C0037061"^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary siderosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10328"^^xsd:string ; a owl:Class ; rdfs:label "siderosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10329 oboInOwl:hasDbXref "ICD10CM:J62.0"^^xsd:string, "NCI:C27026"^^xsd:string, "SNOMEDCT_US_2021_03_01:73144008"^^xsd:string, "UMLS_CUI:C0238377"^^xsd:string ; oboInOwl:hasExactSynonym "Talc Pneumoconiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10329"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pneumoconiosis due to talc"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10330 oboInOwl:hasDbXref "NCI:C35397"^^xsd:string, "SNOMEDCT_US_2021_03_01:1259003"^^xsd:string, "UMLS_CUI:C0340186"^^xsd:string ; oboInOwl:hasExactSynonym "Schistosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10330"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "slate pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10331 oboInOwl:hasDbXref "GARD:8355"^^xsd:string, "NCI:C35315"^^xsd:string, "SNOMEDCT_US_2021_03_01:36696005"^^xsd:string, "UMLS_CUI:C0264435"^^xsd:string ; oboInOwl:hasExactSynonym "Kaolinosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10331"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kaolin pneumoconiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_10316 . obo:DOID_10332 oboInOwl:hasExactSynonym "disorder of optic chiasm associated with vascular disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10332"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of optic chiasm due to vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10334 oboInOwl:hasAlternativeId "DOID:1295"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital abnormality of skull and face bones (disorder)"@en, "Congenital anomalies of skull and face bones"@en, "Skull and face &/or face bone anomalies"@en, "Skull or face bone anomaly NOS"@en, "Skull or face bone anomaly NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10334"^^xsd:string ; a owl:Class ; rdfs:label "obsolete craniofacial abnormality"^^xsd:string ; owl:deprecated true . obo:DOID_10337 obo:IAO_0000115 "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H47.23"^^xsd:string, "ICD9CM:377.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:1207009"^^xsd:string, "UMLS_CUI:C0271342"^^xsd:string ; oboInOwl:hasExactSynonym "Glaucomatous atrophy [cupping] of optic disc"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10337"^^xsd:string ; a owl:Class ; rdfs:label "glaucomatous atrophy of optic disc"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_10338 oboInOwl:hasExactSynonym "Unspecified schizophrenia, subchronic state"@en, "subchronic Schizophrenia"@en, "subchronic schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10338"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subchronic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10339 oboInOwl:hasExactSynonym "simple schizophrenia"@en, "simple schizophrenia (disorder)"@en, "simple schizophrenia NOS (disorder)"@en, "simple type Schizophrenia"@en, "simple type schizophrenia"@en, "simple type schizophrenia, unspecified state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10339"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizophrenia simplex"^^xsd:string ; owl:deprecated true . obo:DOID_10340 oboInOwl:hasExactSynonym "Residual schizophrenia, subchronic state"@en, "subchronic residual schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete residual subchronic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10341 oboInOwl:hasDbXref "ICD10CM:G03.1"^^xsd:string, "ICD9CM:322.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:21664006"^^xsd:string, "UMLS_CUI:C0154653"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10341"^^xsd:string ; a owl:Class ; rdfs:label "chronic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9471 . obo:DOID_10342 oboInOwl:hasExactSynonym "Latent schizophrenia, subchronic state"@en, "Latent subchronic Schizophrenia"@en, "subchronic latent schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10342"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subchronic latent schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10343 oboInOwl:hasExactSynonym "Latent Schizophrenia"@en, "Latent schizophrenia"@en, "Latent schizophrenia (disorder)"@en, "Latent schizophrenia NOS (disorder)"@en, "Latent schizophrenia, unspecified state"@en, "Latent schizophrenic reaction"@en, "Unspecified latent schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10343"^^xsd:string ; a owl:Class ; rdfs:label "obsolete latent schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10348 oboInOwl:hasDbXref "GARD:5932"^^xsd:string, "ICD10CM:H02.52"^^xsd:string, "ICD9CM:374.46"^^xsd:string, "MESH:D016569"^^xsd:string, "UMLS_CUI:C0005744"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10348"^^xsd:string ; a owl:Class ; rdfs:label "blepharophimosis"^^xsd:string ; rdfs:subClassOf obo:DOID_530 ; skos:exactMatch "MESH:D016569"^^xsd:string . obo:DOID_10349 obo:IAO_0000115 "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.0"^^xsd:string, "ICD9CM:610.0"^^xsd:string, "NCI:C3378"^^xsd:string, "SNOMEDCT_US_2021_03_01:270538000"^^xsd:string, "UMLS_CUI:C0037619"^^xsd:string ; oboInOwl:hasExactSynonym "Solitary Cyst of the breast"@en, "Solitary cyst of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10349"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "solitary cyst of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_10350 . obo:DOID_1035 obo:IAO_0000115 "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C94.8"^^xsd:string, "NCI:C8647"^^xsd:string, "SNOMEDCT_US_2021_03_01:128833001"^^xsd:string, "UMLS_CUI:C1292777"^^xsd:string ; oboInOwl:hasExactSynonym "aggressive NK-cell leukaemia"@en, "large granular Lymphocyte Leukemia, NK-cell type"@en, "natural killer cell leukaemia"@en, "natural killer cell leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1035"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aggressive NK-cell leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240, obo:DOID_9500 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_1240 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:CL_0000623 ] ) ] . obo:DOID_10350 obo:IAO_0000115 "A breast benign neoplasm that is characterized by a fluid-filled sac."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.0"^^xsd:string, "MESH:D047688"^^xsd:string, "NCI:C5315"^^xsd:string, "SNOMEDCT_US_2021_03_01:56726003"^^xsd:string, "UMLS_CUI:C0006144"^^xsd:string ; oboInOwl:hasExactSynonym "Cyst of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10350"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_10351 oboInOwl:hasExactSynonym "Comedomastitis"@en, "Mammary duct ectasia (disorder)"@en, "Mammary duct ectasia [Ambiguous]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10351"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mammary duct ectasia"^^xsd:string ; owl:deprecated true . obo:DOID_10352 obo:IAO_0000115 "A breast benign neoplasm that has_material_basis in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.2"^^xsd:string, "ICD9CM:610.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:270893004"^^xsd:string, "UMLS_CUI:C1305875"^^xsd:string ; oboInOwl:hasExactSynonym "Fibroadenosis - breast"@en, "Fibroadenosis of breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10352"^^xsd:string ; a owl:Class ; rdfs:label "breast fibroadenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_10353 obo:IAO_0000115 "A non-proliferative fibrocystic change of the breast that contains scar tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.3"^^xsd:string, "ICD9CM:610.3"^^xsd:string, "NCI:C3660"^^xsd:string, "SNOMEDCT_US_2021_03_01:29070004"^^xsd:string, "UMLS_CUI:C0156318"^^xsd:string ; oboInOwl:hasExactSynonym "Fibrosclerosis of breast"@en, "Fibrosis of the breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10353"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fibrosclerosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_5997 . obo:DOID_10354 obo:IAO_0000115 "A breast benign neoplasm that has_material_basis in fibrous tissue and is characterized by the development of cystic spaces."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N60.1"^^xsd:string, "ICD9CM:610.1"^^xsd:string, "MESH:D005348"^^xsd:string, "NCI:C3039"^^xsd:string, "SNOMEDCT_US_2021_03_01:198091009"^^xsd:string, "UMLS_CUI:C0016034"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse cystic mastopathy"@en, "Fibrocystic disease of breast"@en, "breast Fibrocystic Change"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10354"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "breast fibrocystic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060082 . obo:DOID_1036 obo:IAO_0000115 "A leukemia that develops slowly."^^xsd:string ; oboInOwl:hasDbXref "NCI:C3483"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "CLL"@en, "CML"@en, "adult chronic leukemia"@en ; oboInOwl:id "DOID:1036"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_10361 oboInOwl:hasDbXref "ICD9CM:322.1"^^xsd:string, "NCI:C128374"^^xsd:string, "SNOMEDCT_US_2021_03_01:25671008"^^xsd:string, "UMLS_CUI:C0154652"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "eosinophilic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10341 . obo:DOID_10366 oboInOwl:hasDbXref "ICD10CM:C63.0"^^xsd:string, "ICD9CM:187.5"^^xsd:string, "NCI:C3558"^^xsd:string, "SNOMEDCT_US_2021_03_01:363452003"^^xsd:string, "UMLS_CUI:C0153602"^^xsd:string ; oboInOwl:hasExactSynonym "malignant Epididymal tumor"@en, "malignant neoplasm of epididymis"@en, "malignant tumor of epididymis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10366"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epididymis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0080373, obo:DOID_3856 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001301 ] ) ] . obo:DOID_10367 oboInOwl:hasExactSynonym "metastatic neoplasm to the Epididymis"@en, "secondary malignant neoplasm of epididymis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10367"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the epididymis"^^xsd:string ; owl:deprecated true . obo:DOID_10368 obo:IAO_0000115 "An epididymis cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C39957"^^xsd:string, "UMLS_CUI:C1510784"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "adenocarcinoma of the epididymis"@en ; oboInOwl:id "DOID:10368"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "epididymis adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10366, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_1037 obo:IAO_0000115 "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10747"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C91"^^xsd:string, "ICD9CM:204"^^xsd:string, "MESH:D007945"^^xsd:string, "NCI:C7539"^^xsd:string, "SNOMEDCT_US_2021_03_01:93170002"^^xsd:string, "UMLS_CUI:C0023448"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoblastic leukaemia"@en, "lymphoblastic leukemia"@en, "lymphocytic leukaemia"@en, "lymphoid leukemia"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1037"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "lymphoid leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1240 . obo:DOID_10371 obo:IAO_0000115 "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:7913"^^xsd:string, "ICD10CM:A66"^^xsd:string, "ICD9CM:102"^^xsd:string, "MESH:D015001"^^xsd:string, "NCI:C41353"^^xsd:string, "SNOMEDCT_US_2021_03_01:266213004"^^xsd:string, "UMLS_CUI:C0043388"^^xsd:string ; oboInOwl:hasExactSynonym "Bouba"@en, "frambesia"@en, "frambesia tropica"@en, "frambosie"@en, "polypapilloma tropicum"@en, "thymosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10371"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "yaws"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0001474 obo:UBERON_0004905 ) ] ] . obo:DOID_10375 oboInOwl:hasDbXref "ICD10CM:H53.03"^^xsd:string, "ICD9CM:368.01"^^xsd:string, "MESH:D000550"^^xsd:string, "SNOMEDCT_US_2021_03_01:35600002"^^xsd:string, "UMLS_CUI:C0750903"^^xsd:string ; oboInOwl:hasExactSynonym "Strabismic amblyopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10375"^^xsd:string ; a owl:Class ; rdfs:label "suppression amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10376 . obo:DOID_10376 obo:IAO_0000115 "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.00"^^xsd:string, "ICD9CM:368.00"^^xsd:string, "MESH:D000550"^^xsd:string, "NCI:C118764"^^xsd:string, "SNOMEDCT_US_2021_03_01:155145007"^^xsd:string, "UMLS_CUI:C0002418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10376"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 ; skos:exactMatch "MESH:D000550"^^xsd:string . obo:DOID_10377 oboInOwl:hasDbXref "ICD10CM:H53.02"^^xsd:string, "ICD9CM:368.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:90927000"^^xsd:string, "UMLS_CUI:C0152190"^^xsd:string ; oboInOwl:hasExactSynonym "Refractive amblyopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10377"^^xsd:string ; a owl:Class ; rdfs:label "ametropic amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10376 . obo:DOID_10378 oboInOwl:hasDbXref "ICD10CM:H53.01"^^xsd:string, "ICD9CM:368.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:193638002"^^xsd:string, "UMLS_CUI:C0152189"^^xsd:string ; oboInOwl:hasExactSynonym "Deprivation amblyopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10378"^^xsd:string ; a owl:Class ; rdfs:label "disuse amblyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10376 . obo:DOID_1038 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1038"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mature T-cell neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_10380 oboInOwl:hasAlternativeId "DOID:10379"^^xsd:string, "DOID:14438"^^xsd:string ; oboInOwl:hasExactSynonym "Precipitate labor, antepartum"@en, "Precipitate labor, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10380"^^xsd:string ; a owl:Class ; rdfs:label "obsolete precipitate labor"^^xsd:string ; owl:deprecated true . obo:DOID_10381 oboInOwl:hasExactSynonym "Staphylococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10381"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10383 oboInOwl:hasDbXref "ICD10CM:G54.5"^^xsd:string, "ICD9CM:353.5"^^xsd:string, "MESH:D020968"^^xsd:string, "OMIM:162100"^^xsd:string, "SNOMEDCT_US_2021_03_01:3548001"^^xsd:string, "UMLS_CUI:C1510479"^^xsd:string ; oboInOwl:hasExactSynonym "neuralgic amyotrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10383"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "amyotrophic neuralgia"^^xsd:string ; rdfs:subClassOf obo:DOID_3690 . obo:DOID_10384 oboInOwl:hasExactSynonym "Papilledema associated with decreased ocular pressure (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10384"^^xsd:string ; a owl:Class ; rdfs:label "obsolete papilledema associated with decreased ocular pressure"^^xsd:string ; owl:deprecated true . obo:DOID_1039 oboInOwl:hasDbXref "MESH:D015463"^^xsd:string, "NCI:C3181"^^xsd:string, "SNOMEDCT_US_2021_03_01:110006004"^^xsd:string, "UMLS_CUI:C0023486"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1039"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "prolymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1040 . obo:DOID_10393 oboInOwl:hasDbXref "ICD10CM:M89.4"^^xsd:string, "ICD9CM:731.2"^^xsd:string, "MESH:D010005"^^xsd:string, "SNOMEDCT_US_2021_03_01:46922002"^^xsd:string, "UMLS_CUI:C0029412"^^xsd:string ; oboInOwl:hasExactSynonym "Bamberger-Marie disease"@en, "HPOA - hypertrophic pulmonary osteoarthropathy"@en, "Marie Bamberger disease"@en, "hypertrophic pulmonary osteoarthropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10393"^^xsd:string ; a owl:Class ; rdfs:label "secondary hypertrophic osteoarthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_10398 obo:IAO_0000115 "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10401"^^xsd:string, "DOID:10402"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A20.2"^^xsd:string, "ICD9CM:020.3"^^xsd:string, "ICD9CM:020.4"^^xsd:string, "ICD9CM:020.5"^^xsd:string, "MESH:D010930"^^xsd:string, "SNOMEDCT_US_2021_03_01:35339003"^^xsd:string, "SNOMEDCT_US_2021_03_01:38976008"^^xsd:string, "SNOMEDCT_US_2021_03_01:67525007"^^xsd:string, "UMLS_CUI:C0152937"^^xsd:string, "UMLS_CUI:C0152938"^^xsd:string, "UMLS_CUI:C0524688"^^xsd:string ; oboInOwl:hasExactSynonym "primary pneumonic plague"@en, "secondary pneumonic plague"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10398"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "pneumonic plague"^^xsd:string ; rdfs:subClassOf obo:DOID_3482, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_10399 oboInOwl:hasDbXref "ICD9CM:098.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:23975003"^^xsd:string, "UMLS_CUI:C0153205"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal seminal vesiculitis, chronic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10399"^^xsd:string ; a owl:Class ; rdfs:label "seminal vesicle chronic gonorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_10400 . obo:DOID_104 obo:IAO_0000115 "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A49.9"^^xsd:string, "MESH:D001424"^^xsd:string, "NCI:C2890"^^xsd:string, "SNOMEDCT_US_2021_03_01:87628006"^^xsd:string, "UMLS_CUI:C0004623"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:104"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "bacterial infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_2 ] ) ] . obo:DOID_1040 obo:IAO_0000115 "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000095"^^xsd:string, "GARD:6104"^^xsd:string, "ICD10CM:C91.10"^^xsd:string, "ICD9CM:204.1"^^xsd:string, "MESH:D015451"^^xsd:string, "NCI:C3163"^^xsd:string, "OMIM:109543"^^xsd:string, "OMIM:151400"^^xsd:string, "OMIM:609630"^^xsd:string, "OMIM:612557"^^xsd:string, "OMIM:612558"^^xsd:string, "OMIM:612559"^^xsd:string, "ORDO:67038"^^xsd:string, "SNOMEDCT_US_2021_03_01:51092000"^^xsd:string, "UMLS_CUI:C0023434"^^xsd:string ; oboInOwl:hasExactSynonym "B-cell chronic lymphocytic leukaemia"@en, "B-cell chronic lymphocytic leukemia"@en, "CLL"@en, "chronic lymphatic leukaemia"@en, "chronic lymphatic leukemia"@en, "chronic lymphocytic leukaemia"@en, "lymphoplasmacytic leukaemia"@en, "lymphoplasmacytic leukemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "B-cell chronic lymphoid leukemia"@en ; oboInOwl:id "DOID:1040"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "chronic lymphocytic leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_1037, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000945 ] . obo:DOID_10400 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:301990003"^^xsd:string, "UMLS_CUI:C0578661"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal seminal vesiculitis"@en, "Gonorrhea of seminal vesicle"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10400"^^xsd:string ; a owl:Class ; rdfs:label "gonococcal seminal vesiculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_7551, obo:DOID_9365 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7551 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000998 ] ) ] . obo:DOID_1042 oboInOwl:hasAlternativeId "DOID:10262"^^xsd:string, "DOID:1041"^^xsd:string ; oboInOwl:hasExactSynonym "Generalized infection during labor, delivered"@en, "antepartum generalized infection during labor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1042"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Generalized infection during labor"^^xsd:string ; owl:deprecated true . obo:DOID_10423 oboInOwl:hasDbXref "ICD9CM:523.33"^^xsd:string, "NCI:C34354"^^xsd:string, "SNOMEDCT_US_2021_03_01:155646007"^^xsd:string, "UMLS_CUI:C0001342"^^xsd:string ; oboInOwl:hasExactSynonym "acute Periodontitis"@en, "acute periodontitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10423"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute pericementitis"^^xsd:string ; rdfs:subClassOf obo:DOID_824 . obo:DOID_10426 obo:IAO_0000115 "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14747"^^xsd:string ; oboInOwl:hasDbXref "GARD:10280"^^xsd:string, "ICD10CM:Q76.1"^^xsd:string, "ICD9CM:756.16"^^xsd:string, "MESH:D007714"^^xsd:string, "NCI:C98967"^^xsd:string, "OMIM:PS118100"^^xsd:string, "ORDO:2345"^^xsd:string, "SNOMEDCT_US_2021_03_01:268349005"^^xsd:string, "UMLS_CUI:C0022738"^^xsd:string ; oboInOwl:hasExactSynonym "Klippel-Feil and Turner syndrome"@en, "Klippel-Feil deformity, deafness and facial asymmetry"@en, "autosomal dominant Klippel-Feil syndrome"@en, "congenital dystrophia brevicollis"@en, "congenital synostosis of cervical vertebrae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10426"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Klippel-Feil syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060564, obo:DOID_0080015, obo:DOID_225, [ a owl:Class ; owl:intersectionOf (obo:DOID_0080015 [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001130 ] ) ] ) ] . obo:DOID_10428 oboInOwl:hasDbXref "ICD10CM:H18.61"^^xsd:string, "ICD9CM:371.61"^^xsd:string, "SNOMEDCT_US_2021_03_01:193844000"^^xsd:string, "UMLS_CUI:C0155131"^^xsd:string ; oboInOwl:hasExactSynonym "Keratoconus, stable condition"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10428"^^xsd:string ; a owl:Class ; rdfs:label "stable condition keratoconus"^^xsd:string ; rdfs:subClassOf obo:DOID_10126 . obo:DOID_10435 obo:IAO_0000115 "A suppurative otitis media with sudden onset and a short course."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:382.02"^^xsd:string, "UMLS_CUI:C0155439"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10435"^^xsd:string ; a owl:Class ; rdfs:label "purulent acute otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_11506 . obo:DOID_10437 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10437"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to lymph node"^^xsd:string ; owl:deprecated true . obo:DOID_10439 obo:IAO_0000115 "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.05"^^xsd:string, "ICD9CM:370.07"^^xsd:string, "SNOMEDCT_US_2021_03_01:22440001"^^xsd:string, "UMLS_CUI:C0155072"^^xsd:string ; oboInOwl:hasExactSynonym "Mooren ulcer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10439"^^xsd:string ; a owl:Class ; rdfs:label "Mooren's ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1044 oboInOwl:hasExactSynonym "Non-traumatic muscle tear"@en, "Nontraumatic rupture of muscle (disorder)"@en, "Rupture of muscle, nontraumatic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1044"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nontraumatic rupture of muscle"^^xsd:string ; owl:deprecated true . obo:DOID_10440 obo:IAO_0000115 "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, apergillus, fusarium, and rhizopus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.06"^^xsd:string, "ICD9CM:370.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:59939007"^^xsd:string, "UMLS_CUI:C0155071"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10440"^^xsd:string ; a owl:Class ; rdfs:label "mycotic corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10441 obo:IAO_0000115 "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.04"^^xsd:string, "ICD9CM:370.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:47398006"^^xsd:string, "UMLS_CUI:C0155067"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10441"^^xsd:string ; a owl:Class ; rdfs:label "marginal corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10442 oboInOwl:hasDbXref "ICD10CM:H16.03"^^xsd:string, "ICD9CM:370.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:193762002"^^xsd:string, "UMLS_CUI:C0155070"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10442"^^xsd:string ; a owl:Class ; rdfs:label "hypopyon ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_10443 . obo:DOID_10443 oboInOwl:hasDbXref "ICD10CM:H20.05"^^xsd:string, "ICD9CM:364.05"^^xsd:string, "NCI:C50593"^^xsd:string, "SNOMEDCT_US_2021_03_01:87807004"^^xsd:string, "UMLS_CUI:C0020641"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10443"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypopyon"^^xsd:string ; rdfs:subClassOf obo:DOID_9383 . obo:DOID_10444 obo:IAO_0000115 "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.02"^^xsd:string, "ICD9CM:370.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:193760005"^^xsd:string, "UMLS_CUI:C0155068"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10444"^^xsd:string ; a owl:Class ; rdfs:label "ring corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10445 obo:IAO_0000115 "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H16.07"^^xsd:string, "ICD9CM:370.06"^^xsd:string, "SNOMEDCT_US_2021_03_01:46606001"^^xsd:string, "UMLS_CUI:C0151844"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10445"^^xsd:string ; a owl:Class ; rdfs:label "perforated corneal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_8463 . obo:DOID_10447 oboInOwl:hasAlternativeId "DOID:10446"^^xsd:string, "DOID:14076"^^xsd:string, "DOID:14077"^^xsd:string ; oboInOwl:hasExactSynonym "Thyroid dysfunction of mother, with delivery"@en, "antepartum thyroid dysfunction"@en, "postpartum thyroid dysfunction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10447"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_1045 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1045"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fascia disease"^^xsd:string ; owl:deprecated true . obo:DOID_10456 obo:IAO_0000115 "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10454"^^xsd:string, "DOID:13751"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J35.01"^^xsd:string, "ICD9CM:474.00"^^xsd:string, "MESH:D014069"^^xsd:string, "NCI:C116006"^^xsd:string, "SNOMEDCT_US_2021_03_01:195665006"^^xsd:string, "SNOMEDCT_US_2021_03_01:195794009"^^xsd:string, "UMLS_CUI:C0040425"^^xsd:string, "UMLS_CUI:C0149517"^^xsd:string ; oboInOwl:hasExactSynonym "Throat infection - tonsillitis"@en, "chronic tonsillitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10456"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tonsillitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100765 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_10457 obo:IAO_0000115 "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A48.1"^^xsd:string, "ICD9CM:482.84"^^xsd:string, "MESH:D007877"^^xsd:string, "NCI:C128339"^^xsd:string, "SNOMEDCT_US_2021_03_01:195889001"^^xsd:string, "UMLS_CUI:C0023241"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Legionella pneumophilia"@en, "Legionella"@en, "Legionella pneumonia"@en, "Legionnaire's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10457"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Legionnaires' disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10458, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_10458 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007876"^^xsd:string, "NCI:C128334"^^xsd:string, "SNOMEDCT_US_2021_03_01:26726000"^^xsd:string, "UMLS_CUI:C0023240"^^xsd:string ; oboInOwl:hasExactSynonym "Legionella infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10458"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "legionellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_446 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000025 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_10459 obo:IAO_0000115 "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J00"^^xsd:string, "ICD9CM:460"^^xsd:string, "MESH:D003139"^^xsd:string, "NCI:C34500"^^xsd:string, "SNOMEDCT_US_2021_03_01:195648002"^^xsd:string, "UMLS_CUI:C0009443"^^xsd:string ; oboInOwl:hasExactSynonym "Acute viral rhinopharyngitis"@en, "Nasopharyngitis - acute"@en, "Nasopharyngitis, acute"@en, "acute Nasopharyngitis"@en, "acute coryza"@en, "acute nasopharyngitis"@en, "acute rhinitis"@en, "rhino-sinusitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "common cold"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_10460 obo:IAO_0000115 "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11587"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J00"^^xsd:string, "ICD10CM:J31.1"^^xsd:string, "ICD9CM:472.2"^^xsd:string, "MESH:D009304"^^xsd:string, "NCI:C34837"^^xsd:string, "SNOMEDCT_US_2021_03_01:155524006"^^xsd:string, "SNOMEDCT_US_2021_03_01:51476001"^^xsd:string, "UMLS_CUI:C0027441"^^xsd:string, "UMLS_CUI:C0155826"^^xsd:string ; oboInOwl:hasExactSynonym "chronic nasopharyngitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10460"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasopharyngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9561 . obo:DOID_10461 oboInOwl:hasDbXref "ICD10CM:K02"^^xsd:string, "ICD9CM:521.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:442551007"^^xsd:string, "UMLS_CUI:C0266846"^^xsd:string ; oboInOwl:hasExactSynonym "Compound dental caries"@en, "Dental caries extending into dentine"@en, "Dentin caries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10461"^^xsd:string ; a owl:Class ; rdfs:label "dentin caries"^^xsd:string ; rdfs:subClassOf obo:DOID_216 . obo:DOID_10469 oboInOwl:hasExactSynonym "Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10469"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_1047 oboInOwl:hasAlternativeId "DOID:1046"^^xsd:string, "DOID:10663"^^xsd:string, "DOID:10664"^^xsd:string, "DOID:10665"^^xsd:string, "DOID:12734"^^xsd:string, "DOID:14128"^^xsd:string, "DOID:9701"^^xsd:string ; oboInOwl:hasExactSynonym "Mental disorder of mother, antepartum"@en, "Mental disorder of mother, with delivery"@en, "peripheral neuritis antepartum"@en, "peripheral neuritis in pregnancy, with delivery"@en, "peripheral neuritis postpartum"@en, "postpartum edema or excessive weight gain"@en, "postpartum mental disorder of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1047"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_10471 oboInOwl:hasDbXref "ICD10CM:M76.5"^^xsd:string, "ICD9CM:726.64"^^xsd:string, "SNOMEDCT_US_2021_03_01:156662006"^^xsd:string, "UMLS_CUI:C0158317"^^xsd:string ; oboInOwl:hasExactSynonym "Patellar tendonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10471"^^xsd:string ; a owl:Class ; rdfs:label "patellar tendinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_971 . obo:DOID_10472 obo:IAO_0000115 "A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain."^^xsd:string ; oboInOwl:hasExactSynonym "Candidiasis of lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10472"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10473 oboInOwl:hasExactSynonym "Enthesopathy of the wrist and carpus (disorder)"@en, "Enthesopathy of wrist and carpus"@en, "Enthesopathy of wrist and/or carpus (disorder)"@en, "Wrist or carpus enthesopathy NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10473"^^xsd:string ; a owl:Class ; rdfs:label "obsolete wrist or carpus enthesopathy"^^xsd:string ; owl:deprecated true . obo:DOID_10480 oboInOwl:hasDbXref "ICD10CM:Q79.1"^^xsd:string, "MESH:D003965"^^xsd:string, "NCI:C98912"^^xsd:string, "SNOMEDCT_US_2021_03_01:34168003"^^xsd:string, "UMLS_CUI:C0011981"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10480"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diaphragmatic eventration"^^xsd:string ; rdfs:subClassOf obo:DOID_10481 . obo:DOID_10481 obo:IAO_0000115 "A muscular disease that is located_in the diaphragm."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J98.6"^^xsd:string, "ICD9CM:519.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:48475001"^^xsd:string, "UMLS_CUI:C0152097"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10481"^^xsd:string ; a owl:Class ; rdfs:label "diaphragm disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001103 ] ) ] . obo:DOID_10483 oboInOwl:hasAlternativeId "DOID:10482"^^xsd:string, "DOID:11860"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10483"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypertonic, incoordinate, or prolonged uterine contractions"^^xsd:string ; owl:deprecated true . obo:DOID_10485 oboInOwl:hasDbXref "GARD:6381"^^xsd:string, "ICD10CM:Q39.0"^^xsd:string, "MESH:D004933"^^xsd:string, "NCI:C87072"^^xsd:string, "SNOMEDCT_US_2021_03_01:156947007"^^xsd:string, "UMLS_CUI:C0014850"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital atresia of esophagus"@en, "Congenital imperforate esophagus"@en, "Imperforate esophagus"@en, "Oesophageal atresia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10485"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_10486 oboInOwl:hasDbXref "ICD10CM:Q41.1"^^xsd:string, "MESH:D007409"^^xsd:string, "NCI:C84790"^^xsd:string, "UMLS_CUI:C0021828"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intestinal atresia"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10487 obo:IAO_0000115 "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel."^^xsd:string ; oboInOwl:hasDbXref "GARD:6660"^^xsd:string, "ICD10CM:Q43.1"^^xsd:string, "MESH:D006627"^^xsd:string, "NCI:C34700"^^xsd:string, "OMIM:600156"^^xsd:string, "OMIM:606874"^^xsd:string, "OMIM:606875"^^xsd:string, "OMIM:608462"^^xsd:string, "OMIM:611644"^^xsd:string, "ORDO:388"^^xsd:string, "SNOMEDCT_US_2021_03_01:204739008"^^xsd:string, "UMLS_CUI:C0019569"^^xsd:string ; oboInOwl:hasExactSynonym "Hirschsprung disease"@en, "aganglionic megacolon"@en, "congenital megacolon"@en, "macrocolon"@en, "pelvirectal achalasia"@en, "total intestinal aganglionosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10487"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Hirschsprung's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11372 . obo:DOID_10488 oboInOwl:hasDbXref "GARD:6769"^^xsd:string, "ICD10CM:Q42.3"^^xsd:string, "MESH:D001006"^^xsd:string, "NCI:C84784"^^xsd:string, "OMIM:207500"^^xsd:string, "OMIM:301800"^^xsd:string, "SNOMEDCT_US_2021_03_01:156956004"^^xsd:string, "UMLS_CUI:C0003466"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital atresia of anus"@en, "Congenital or infantile occlusion of anus"@en, "Imperforate anus"@en, "anal atresia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10488"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "imperforate anus"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_3128 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0080015 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001245 ] ) ] . obo:DOID_10489 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10489"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transient disorder of initiating or maintaining wakefulness"^^xsd:string ; owl:deprecated true . obo:DOID_10493 oboInOwl:hasDbXref "ICD9CM:255.4"^^xsd:string, "NCI:C26691"^^xsd:string, "SNOMEDCT_US_2021_03_01:68588005"^^xsd:string, "UMLS_CUI:C0405580"^^xsd:string ; oboInOwl:hasExactSynonym "Adrenal Cortical Insufficiency"@en, "Corticoadrenal insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10493"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "adrenal cortical hypofunction"^^xsd:string ; rdfs:subClassOf obo:DOID_3952 . obo:DOID_10494 oboInOwl:hasExactSynonym "Syphilitic endocarditis of pulmonary valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10494"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete pulmonary valve syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_10499 oboInOwl:hasDbXref "ICD10CM:H05.11"^^xsd:string, "ICD9CM:376.11"^^xsd:string, "NCI:C3653"^^xsd:string, "SNOMEDCT_US_2021_03_01:194008000"^^xsd:string, "UMLS_CUI:C0155262"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10499"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbital granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_1397 . obo:DOID_10501 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10501"^^xsd:string ; a owl:Class ; rdfs:label "obsolete menopausal and postmenopausal disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10505 oboInOwl:hasAlternativeId "DOID:10504"^^xsd:string ; oboInOwl:hasExactSynonym "generalized nonconvulsive epilepsy with intractable epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10505"^^xsd:string ; a owl:Class ; rdfs:label "obsolete generalized nonconvulsive epilepsy disease"^^xsd:string ; owl:deprecated true . obo:DOID_10507 obo:IAO_0000115 "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I24.1"^^xsd:string, "ICD9CM:411.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:66189004"^^xsd:string, "UMLS_CUI:C0152107"^^xsd:string ; oboInOwl:hasExactSynonym "Dressler syndrome"@en, "Postmyocardial infarction syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10507"^^xsd:string ; a owl:Class ; rdfs:label "Dressler's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1787 . obo:DOID_10508 obo:IAO_0000115 "A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis."^^xsd:string ; oboInOwl:hasExactSynonym "Anthrax pneumonia (disorder)"@en, "Pneumonia in anthrax"@en, "Woolsorters' pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10508"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Bacillus anthracis pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10510 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills."^^xsd:string ; oboInOwl:hasExactSynonym "influenza pneumonia"@en, "influenzal pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10510"^^xsd:string ; a owl:Class ; rdfs:label "obsolete influenza virus pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10516 obo:IAO_0000115 "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H60.2"^^xsd:string, "ICD9CM:380.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:194206006"^^xsd:string, "UMLS_CUI:C0155395"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10516"^^xsd:string ; a owl:Class ; rdfs:label "malignant otitis externa"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_10518 obo:IAO_0000115 "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:30250000"^^xsd:string, "UMLS_CUI:C0155393"^^xsd:string ; oboInOwl:hasExactSynonym "Tank ear"@en, "acute bacterial inflammation of external ear"@en, "acute otitis externa, diffuse"@en, "acute swimmer's ear"@en, "acute swimmers' ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10518"^^xsd:string ; a owl:Class ; rdfs:label "beach ear"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_10519 obo:IAO_0000115 "A otomycosis which is persistent and long-lasting or recurrent."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:111898002"^^xsd:string, "UMLS_CUI:C0155396"^^xsd:string ; oboInOwl:hasExactSynonym "chronic mycotic otitis externa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10519"^^xsd:string ; a owl:Class ; rdfs:label "chronic fungal otitis externa"^^xsd:string ; rdfs:subClassOf obo:DOID_0050147, obo:DOID_1564, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_10520 obo:IAO_0000115 "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:380.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:56663002"^^xsd:string, "UMLS_CUI:C0155392"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10520"^^xsd:string ; a owl:Class ; rdfs:label "acute infection of pinna"^^xsd:string ; rdfs:subClassOf obo:DOID_9463 . obo:DOID_10521 oboInOwl:hasExactSynonym "Unspecified disorder of pinna (disorder)"@en, "disorder of pinna (disorder)"@en, "disorder of pinna, unspecified"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10521"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pinna disease"^^xsd:string ; owl:deprecated true . obo:DOID_10525 obo:IAO_0000115 "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple \"heads\" or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:372.44"^^xsd:string, "SNOMEDCT_US_2021_03_01:193883003"^^xsd:string, "UMLS_CUI:C0155157"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10525"^^xsd:string ; a owl:Class ; rdfs:label "double pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_0002116 . obo:DOID_10526 obo:IAO_0000115 "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula."^^xsd:string ; oboInOwl:hasExactSynonym "Web eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10526"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival pterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_0002116, obo:DOID_4251, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_10527 obo:IAO_0000115 "A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless."^^xsd:string ; oboInOwl:hasExactSynonym "Haemophilus influenzae pneumonia (disorder)"@en, "Pneumonia due to H. influenzae"@en, "Pneumonia due to Hemophilus influenzae [H. influenzae]"@en, "pneumonia due to hemophilus influenzae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10527"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10528 oboInOwl:hasExactSynonym "HEMOPHILUS INFLUENZA INFECTION"@en, "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters"@en, "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)"@en, "Haemophilus influenzae infection (disorder)"@en, "Haemophilus influenzae infection, unspecified (disorder)"@en, "Hemophilus Influenza Infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10528"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10529 oboInOwl:hasExactSynonym "Haemophilus infection (disorder)"@en, "Hemophilus Infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10529"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Haemophilus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1053 oboInOwl:hasAlternativeId "DOID:1052"^^xsd:string, "DOID:11114"^^xsd:string, "DOID:11311"^^xsd:string, "DOID:12032"^^xsd:string, "DOID:12370"^^xsd:string, "DOID:13332"^^xsd:string, "DOID:13797"^^xsd:string, "DOID:1710"^^xsd:string ; oboInOwl:hasExactSynonym "Developmental dislocation of ankle and foot joint"@en, "Developmental dislocation of forearm joint"@en, "Developmental dislocation of hand joint"@en, "Developmental dislocation of joint of multiple sites"@en, "Developmental dislocation of joint of pelvic region and thigh"@en, "Developmental dislocation of joint of shoulder region"@en, "Developmental dislocation of lower leg joint"@en, "Developmental dislocation of upper arm joint"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1053"^^xsd:string ; a owl:Class ; rdfs:label "obsolete developmental dislocation of joint"^^xsd:string ; owl:deprecated true . obo:DOID_10531 obo:IAO_0000115 "A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting."^^xsd:string ; oboInOwl:hasExactSynonym "Chest infection - pneumococcal pneumonia"@en, "Lobar -pneumococcal -pneumonia"@en, "Lobar pneumonia (disorder)"@en, "Pneumococcal lobar pneumonia (disorder)"@en, "Pneumococcal pneumonia (disorder)"@en, "Pneumococcal pneumonia (disorder) [Ambiguous]"@en, "Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]"@en, "Streptococcus pneumoniae pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10531"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10532 obo:IAO_0000115 "A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10532"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_10533 obo:IAO_0000115 "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13167"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J12.9"^^xsd:string, "ICD9CM:480"^^xsd:string, "MESH:D011024"^^xsd:string, "SNOMEDCT_US_2021_03_01:195880002"^^xsd:string, "UMLS_CUI:C0032310"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10533"^^xsd:string ; a owl:Class ; rdfs:label "viral pneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_552, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_10534 obo:IAO_0000115 "A gastrointestinal system cancer that is located_in the stomach."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10539"^^xsd:string, "DOID:10542"^^xsd:string, "DOID:10543"^^xsd:string, "DOID:4713"^^xsd:string ; oboInOwl:hasDbXref "GARD:7704"^^xsd:string, "ICD10CM:C16"^^xsd:string, "ICD10CM:C16.2"^^xsd:string, "ICD10CM:C16.5"^^xsd:string, "ICD10CM:C16.6"^^xsd:string, "ICD9CM:151"^^xsd:string, "ICD9CM:151.4"^^xsd:string, "ICD9CM:151.5"^^xsd:string, "ICD9CM:151.6"^^xsd:string, "MESH:D013274"^^xsd:string, "NCI:C3387"^^xsd:string, "NCI:C9331"^^xsd:string, "OMIM:613659"^^xsd:string, "SNOMEDCT_US_2021_03_01:126824007"^^xsd:string, "SNOMEDCT_US_2021_03_01:269459004"^^xsd:string, "SNOMEDCT_US_2021_03_01:269460009"^^xsd:string, "SNOMEDCT_US_2021_03_01:93717002"^^xsd:string, "SNOMEDCT_US_2021_03_01:94074003"^^xsd:string, "UMLS_CUI:C0024623"^^xsd:string, "UMLS_CUI:C0038356"^^xsd:string, "UMLS_CUI:C0153421"^^xsd:string, "UMLS_CUI:C0153422"^^xsd:string, "UMLS_CUI:C0153423"^^xsd:string ; oboInOwl:hasExactSynonym "gastric cancer"@en, "gastric neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10534"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "stomach cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3119, obo:DOID_76 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000945 ] ) ] . obo:DOID_10535 obo:IAO_0000115 "A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackie myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_10536 oboInOwl:hasDbXref "NCI:C5484"^^xsd:string, "UMLS_CUI:C1334585"^^xsd:string ; oboInOwl:hasExactSynonym "malignant gastric granular cell tumour"@en, "malignant granular cell tumor of stomach"@en, "malignant granular cell tumour of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10536"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant gastric granular cell tumor"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 . obo:DOID_10537 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10537"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant gastric neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_10538 obo:IAO_0000115 "A stomach cancer that is located_in the gastric fundus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C16.1"^^xsd:string, "ICD9CM:151.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93809003"^^xsd:string, "UMLS_CUI:C0153420"^^xsd:string ; oboInOwl:hasExactSynonym "Ca fundus - stomach"@en, "malignant neoplasm of fundus of stomach"@en, "malignant tumor of fundus of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10538"^^xsd:string ; a owl:Class ; rdfs:label "gastric fundus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001160 ] ) ] . obo:DOID_1054 oboInOwl:hasExactSynonym "Glaucoma associated with chamber angle anomalies (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1054"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with chamber angle anomalies"^^xsd:string ; owl:deprecated true . obo:DOID_10540 oboInOwl:hasDbXref "GARD:6485"^^xsd:string, "NCI:C4636"^^xsd:string, "SNOMEDCT_US_2021_03_01:276811008"^^xsd:string, "UMLS_CUI:C0349532"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10540"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_10534, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10541 oboInOwl:hasDbXref "NCI:C27131"^^xsd:string, "SNOMEDCT_US_2021_03_01:276809004"^^xsd:string, "UMLS_CUI:C0349530"^^xsd:string ; oboInOwl:hasExactSynonym "Surface gastric cancer"@en, "early gastric cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10541"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "microinvasive gastric cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3717 . obo:DOID_10544 oboInOwl:hasDbXref "ICD10CM:C16.4"^^xsd:string, "ICD9CM:151.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:187736009"^^xsd:string, "UMLS_CUI:C0153418"^^xsd:string ; oboInOwl:hasExactSynonym "Ca pylorus - stomach"@en, "malignant neoplasm of Prepylorus"@en, "malignant neoplasm of pylorus of stomach"@en, "malignant tumor of pylorus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10544"^^xsd:string ; a owl:Class ; rdfs:label "pylorus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001166 ] ) ] . obo:DOID_10545 obo:IAO_0000115 "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10546"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10545"^^xsd:string ; a owl:Class ; rdfs:label "obsolete coxsackievirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10547 oboInOwl:hasDbXref "ICD10CM:C16.3"^^xsd:string, "ICD9CM:151.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93976007"^^xsd:string, "UMLS_CUI:C0153419"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of antrum of stomach"@en, "malignant tumor of pyloric antrum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10547"^^xsd:string ; a owl:Class ; rdfs:label "pyloric antrum cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10544 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001165 ] ) ] . obo:DOID_10548 oboInOwl:hasDbXref "ICD10CM:C16.0"^^xsd:string, "ICD9CM:151.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:93738008"^^xsd:string, "UMLS_CUI:C0153417"^^xsd:string ; oboInOwl:hasExactSynonym "Ca cardia - stomach"@en, "malignant neoplasm of cardia of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10548"^^xsd:string ; a owl:Class ; rdfs:label "cardia cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10534 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001162 ] ) ] . obo:DOID_10549 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations"@en, "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10549"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_1055 oboInOwl:hasExactSynonym "Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1055"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10550 obo:IAO_0000115 "A otosalpingitis with a sudden onset and a short course."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H68.01"^^xsd:string, "ICD9CM:381.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:194268005"^^xsd:string, "UMLS_CUI:C0155429"^^xsd:string ; oboInOwl:hasExactSynonym "acute eustachian tube salpingitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10550"^^xsd:string ; a owl:Class ; rdfs:label "acute eustachian salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2000 . obo:DOID_10551 obo:IAO_0000115 "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures."^^xsd:string ; oboInOwl:hasExactSynonym "Encephalitis due to acquired toxoplasmosis"@en, "Meningoencephalitis due to acquired toxoplasmosis (disorder)"@en, "Meningoencephalitis due to toxoplasmosis"@en, "Toxoplasma encephalitis"@en, "Toxoplasma encephalitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10551"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cerebral toxoplasmosis"^^xsd:string ; owl:deprecated true . obo:DOID_10554 obo:IAO_0000115 "A central nervous system disease that involves encephalitis which occurs along with meningitis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A69.22"^^xsd:string, "MESH:D008590"^^xsd:string, "NCI:C34813"^^xsd:string, "SNOMEDCT_US_2021_03_01:7125002"^^xsd:string, "UMLS_CUI:C0025309"^^xsd:string ; oboInOwl:hasExactSynonym "Meningoencephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10554"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meningoencephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_10556 obo:IAO_0000115 "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10555"^^xsd:string, "DOID:12413"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:669.20"^^xsd:string, "UMLS_CUI:C0157456"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum maternal hypotension syndrome"@en, "postpartum maternal hypotension syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10556"^^xsd:string ; a owl:Class ; rdfs:label "supine hypotensive syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000769 ] . obo:DOID_10557 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10557"^^xsd:string ; a owl:Class ; rdfs:label "obsolete maternal distress"^^xsd:string ; owl:deprecated true . obo:DOID_1056 obo:IAO_0000115 "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney."^^xsd:string ; oboInOwl:hasDbXref "GARD:3295"^^xsd:string, "ICD10CM:E72.03"^^xsd:string, "MEDDRA:10051707"^^xsd:string, "MESH:D009800"^^xsd:string, "NCI:C84940"^^xsd:string, "OMIM:309000"^^xsd:string, "ORDO:534"^^xsd:string, "SNOMEDCT_US_2021_03_01:79385002"^^xsd:string, "UMLS_CUI:C0028860"^^xsd:string ; oboInOwl:hasExactSynonym "Lowe syndrome"@en, "lowe oculocerebrorenal syndrome"@en, "oculocerebrorenal syndrome of Lowe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1056"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "oculocerebrorenal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_10561 oboInOwl:hasExactSynonym "hyperkeratosis due to yaws"@en, "hyperkeratosis of yaws (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10561"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete yaws hyperkeratosis"^^xsd:string ; owl:deprecated true . obo:DOID_10564 obo:IAO_0000115 "A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue."^^xsd:string ; oboInOwl:hasExactSynonym "Gangosa"@en, "Gangosa of yaws (disorder)"@en, "Rhinopharyngitis mutilans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10564"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete gangosa of yaws"^^xsd:string ; owl:deprecated true . obo:DOID_10567 obo:IAO_0000115 "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10370"^^xsd:string, "DOID:10562"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A66.1"^^xsd:string, "ICD10CM:A66.4"^^xsd:string, "ICD9CM:102.1"^^xsd:string, "ICD9CM:102.4"^^xsd:string, "NCI:C41354"^^xsd:string, "SNOMEDCT_US_2021_03_01:186968004"^^xsd:string, "UMLS_CUI:C0153234"^^xsd:string, "UMLS_CUI:C0276007"^^xsd:string, "UMLS_CUI:C1517744"^^xsd:string ; oboInOwl:hasExactSynonym "Gummata and ulcers due to yaws"@en, "Gummata of yaws"@en, "Ulcers of yaws"@en, "Yaws gummata and ulcers"@en, "gummatous frambeside"@en, "multiple papillomata due to yaws and wet crab yaws"@en, "nodular late yaws"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10567"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "late yaws"^^xsd:string ; rdfs:subClassOf obo:DOID_10371 . obo:DOID_10568 obo:IAO_0000115 "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10563"^^xsd:string, "DOID:10565"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A66.0"^^xsd:string, "ICD10CM:A66.6"^^xsd:string, "ICD9CM:102.0"^^xsd:string, "ICD9CM:102.6"^^xsd:string, "NCI:C41352"^^xsd:string, "SNOMEDCT_US_2021_03_01:23191004"^^xsd:string, "SNOMEDCT_US_2021_03_01:266147005"^^xsd:string, "SNOMEDCT_US_2021_03_01:49442000"^^xsd:string, "UMLS_CUI:C0275990"^^xsd:string, "UMLS_CUI:C0275998"^^xsd:string, "UMLS_CUI:C0343834"^^xsd:string ; oboInOwl:hasExactSynonym "Frambesia, initial or primary"@en, "Initial frambesial ulcer"@en, "Initial lesions of yaws"@en, "bone and joint lesions due to yaws"@en, "bone and joint yaws lesion"@en, "chancre of yaws"@en, "primary frambesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10568"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "early yaws"^^xsd:string ; rdfs:subClassOf obo:DOID_10371 . obo:DOID_10569 oboInOwl:hasExactSynonym "Critical illness myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10569"^^xsd:string ; a owl:Class ; rdfs:label "obsolete myopathy of critical illness"^^xsd:string ; owl:deprecated true . obo:DOID_1057 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1057"^^xsd:string ; a owl:Class ; rdfs:label "obsolete inborn amino acid transport disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10573 obo:IAO_0000115 "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone."^^xsd:string ; oboInOwl:hasDbXref "GARD:7285"^^xsd:string, "ICD9CM:268.2"^^xsd:string, "NCI:C26838"^^xsd:string, "SNOMEDCT_US_2021_03_01:190639009"^^xsd:string, "UMLS_CUI:C0029442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 ; skos:exactMatch "MESH:D010018"^^xsd:string . obo:DOID_10574 oboInOwl:hasExactSynonym "Avitaminosis D"@en, "Avitaminosis D NOS (disorder)"@en, "Unspecified vitamin D deficiency"@en, "deficiency of vitamin D (disorder)"@en, "vitamin D deficiency"@en, "vitamin D deficiency (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10574"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin D deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_10575 oboInOwl:hasDbXref "ICD10CM:E83.5"^^xsd:string, "ICD9CM:275.4"^^xsd:string, "MESH:D002128"^^xsd:string, "SNOMEDCT_US_2021_03_01:267442002"^^xsd:string, "UMLS_CUI:C0006705"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10575"^^xsd:string ; a owl:Class ; rdfs:label "calcium metabolism disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050032 . obo:DOID_10579 obo:IAO_0000115 "A cerebral degeneration characterized by dysfunction of the white matter of the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:6895"^^xsd:string, "ICD9CM:330.0"^^xsd:string, "NCI:C61253"^^xsd:string, "SNOMEDCT_US_2021_03_01:5101009"^^xsd:string, "UMLS_CUI:C0023520"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10579"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_1058 oboInOwl:hasExactSynonym "Disturbances of amino-acid transport"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1058"^^xsd:string ; a owl:Class ; rdfs:label "obsolete amino acid transport disease"^^xsd:string ; owl:deprecated true . obo:DOID_10581 obo:IAO_0000115 "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:3230"^^xsd:string, "ICD10CM:E75.25"^^xsd:string, "MESH:D007966"^^xsd:string, "NCI:C61251"^^xsd:string, "OMIM:249900"^^xsd:string, "OMIM:250100"^^xsd:string, "ORDO:512"^^xsd:string, "SNOMEDCT_US_2021_03_01:3621006"^^xsd:string, "UMLS_CUI:C0023522"^^xsd:string ; oboInOwl:hasExactSynonym "MLD"@en, "Scholz cerebral sclerosis"@en, "arylsulfatase A deficiency"@en, "deficiency of cerebroside-sulfatase"@en, "sulfatide lipoidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10581"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "metachromatic leukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_10582 oboInOwl:hasDbXref "GARD:5691"^^xsd:string, "ICD10CM:G60.1"^^xsd:string, "ICD9CM:356.3"^^xsd:string, "MESH:D012035"^^xsd:string, "NCI:C85043"^^xsd:string, "OMIM:266500"^^xsd:string, "OMIM:266510"^^xsd:string, "SNOMEDCT_US_2021_03_01:25362006"^^xsd:string, "UMLS_CUI:C0034960"^^xsd:string ; oboInOwl:hasExactSynonym "HMSN type IV"@en, "HSMN IV"@en, "Heredopathia atactica polyneuritiformis"@en, "Refsum's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10582"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Refsum disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_10584 obo:IAO_0000115 "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14742"^^xsd:string ; oboInOwl:hasDbXref "GARD:5694"^^xsd:string, "ICD10CM:H35.52"^^xsd:string, "MESH:C538365"^^xsd:string, "MESH:D012174"^^xsd:string, "NCI:C85045"^^xsd:string, "OMIM:PS268000"^^xsd:string, "ORDO:791"^^xsd:string, "SNOMEDCT_US_2021_03_01:155113002"^^xsd:string, "UMLS_CUI:C0035334"^^xsd:string, "UMLS_CUI:C0220701"^^xsd:string ; oboInOwl:hasExactSynonym "pericentral pigmentary retinopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10584"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [LS]."""^^xsd:string ; rdfs:label "retinitis pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_10585 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10585"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary and idiopathic peripheral neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_10587 oboInOwl:hasDbXref "GARD:6844"^^xsd:string, "ICD10CM:E75.23"^^xsd:string, "MESH:D007965"^^xsd:string, "NCI:C61254"^^xsd:string, "OMIM:245200"^^xsd:string, "SNOMEDCT_US_2021_03_01:192782005"^^xsd:string, "UMLS_CUI:C0023521"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse globoid body sclerosis"@en, "GLOBOID CELL LEUKOENCEPHALOPATHY"@en, "Galactosylceramide beta-galactosidase deficiency"@en, "Krabbe's disease"@en, "Krabbe's leukodystrophy"@en, "beta galactocerebrosidase deficiency"@en, "globoid cell leukodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10587"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Krabbe disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1927 . obo:DOID_10588 obo:IAO_0000115 "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13451"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E71.52"^^xsd:string, "MESH:D000326"^^xsd:string, "NCI:C61252"^^xsd:string, "OMIM:300100"^^xsd:string, "SNOMEDCT_US_2021_03_01:65389002"^^xsd:string, "UMLS_CUI:C0162309"^^xsd:string ; oboInOwl:hasExactSynonym "ALD"@en, "Bronze Schilder disease"@en, "Encephalitis periaxialis concentrica"@en, "Encephalitis periaxialis, Schilder's"@en, "Siemerling-Creutzfeldt Disease"@en, "X-linked adrenoleukodystrophy"@en, "diffuse sclerosis"@en, "sudanophilic cerebral sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10588"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "MESH:D000326w added from NeuroDevNet [WAK]."^^xsd:string ; rdfs:label "adrenoleukodystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_10579, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ; skos:exactMatch "MESH:D000326"^^xsd:string . obo:DOID_1059 obo:IAO_0000115 "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills."^^xsd:string ; oboInOwl:hasDbXref "NCI:C84392"^^xsd:string, "SNOMEDCT_US_2021_03_01:1855002"^^xsd:string, "UMLS_CUI:C0025362"^^xsd:string ; oboInOwl:hasExactSynonym "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "mental retardation"@en ; oboInOwl:id "DOID:1059"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping submitted by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "intellectual disability"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0012759 ] . obo:DOID_10590 obo:IAO_0000115 "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:642.40"^^xsd:string, "UMLS_CUI:C0156664"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10590"^^xsd:string ; a owl:Class ; rdfs:label "mild pre-eclampsia"^^xsd:string ; rdfs:subClassOf obo:DOID_10591 . obo:DOID_10591 obo:IAO_0000115 "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12684"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O14"^^xsd:string, "MESH:D011225"^^xsd:string, "NCI:C85021"^^xsd:string, "OMIM:189800"^^xsd:string, "OMIM:609402"^^xsd:string, "OMIM:609403"^^xsd:string, "OMIM:609404"^^xsd:string, "OMIM:614592"^^xsd:string, "ORDO:275555"^^xsd:string, "SNOMEDCT_US_2021_03_01:6758009"^^xsd:string, "UMLS_CUI:C0032914"^^xsd:string ; oboInOwl:hasExactSynonym "gestational hypertension"@en, "hypertension induced by pregnancy"@en, "pre-eclamptic toxaemia"@en, "preeclampsia"@en, "preeclampsia/eclampsia"@en, "pregnancy associated hypertension"@en, "pregnancy toxemia"@en, "proteinuric hypertension of pregnancy"@en, "toxaemia of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10591"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "pre-eclampsia"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_10593 oboInOwl:hasDbXref "ICD9CM:356.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:193164007"^^xsd:string, "UMLS_CUI:C0154756"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic progressive polyneuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10593"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic progressive polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1389 . obo:DOID_10594 oboInOwl:hasExactSynonym "Unspecified idiopathic peripheral neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10594"^^xsd:string ; a owl:Class ; rdfs:label "obsolete idiopathic neuropathy"^^xsd:string ; owl:deprecated true . obo:DOID_10595 obo:IAO_0000115 "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm."^^xsd:string ; oboInOwl:hasDbXref "GARD:6034"^^xsd:string, "ICD10CM:G60.0"^^xsd:string, "ICD9CM:356.1"^^xsd:string, "MESH:D002607"^^xsd:string, "NCI:C75467"^^xsd:string, "OMIM:PS118220"^^xsd:string, "SNOMEDCT_US_2021_03_01:193158000"^^xsd:string, "UMLS_CUI:C0007959"^^xsd:string ; oboInOwl:hasExactSynonym "CMT - Charcot-Marie-Tooth disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10595"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Charcot-Marie-Tooth disease"^^xsd:string ; rdfs:subClassOf obo:DOID_440 . obo:DOID_10597 oboInOwl:hasExactSynonym "Gonococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10597"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete gonococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_106 obo:IAO_0000115 "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12624"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A15.6"^^xsd:string, "ICD9CM:010.1"^^xsd:string, "ICD9CM:012.0"^^xsd:string, "MESH:D014396"^^xsd:string, "NCI:C26898"^^xsd:string, "SNOMEDCT_US_2021_03_01:186172004"^^xsd:string, "SNOMEDCT_US_2021_03_01:68706009"^^xsd:string, "UMLS_CUI:C0041326"^^xsd:string, "UMLS_CUI:C0152531"^^xsd:string ; oboInOwl:hasExactSynonym "Pearly disease"@en, "Tuberculosis of pleura"@en, "Tuberculous pleurisy"@en, "Tuberculous pleuritis"@en, "tuberculous pleurisy in primary progressive tuberculosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:106"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pleural tuberculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050598, obo:DOID_1205, obo:DOID_1532, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000107 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000977 ] . obo:DOID_1060 obo:IAO_0000115 "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum."^^xsd:string ; oboInOwl:hasDbXref "GARD:6569"^^xsd:string, "ICD10CM:E72.02"^^xsd:string, "MESH:D006250"^^xsd:string, "NCI:C84748"^^xsd:string, "OMIM:234500"^^xsd:string, "SNOMEDCT_US_2021_03_01:80902009"^^xsd:string, "UMLS_CUI:C0018609"^^xsd:string ; oboInOwl:hasExactSynonym "Neutral 1 amino acid transport defect"@en, "deficiency of tryptophan oxygenase"@en, "neutral amino acid transport defect"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Hartnup disease"^^xsd:string ; rdfs:subClassOf obo:DOID_9252, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0003355 ] . obo:DOID_10600 obo:IAO_0000115 "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F95.1"^^xsd:string, "ICD9CM:307.22"^^xsd:string, "MESH:D013981"^^xsd:string, "NCI:C116768"^^xsd:string, "SNOMEDCT_US_2021_03_01:192623005"^^xsd:string, "UMLS_CUI:C0008701"^^xsd:string ; oboInOwl:hasExactSynonym "chronic motor or vocal tic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10600"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic tic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2769, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100035 ] . obo:DOID_10602 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10602"^^xsd:string ; a owl:Class ; rdfs:comment "doid/symp duplicate - moved to Symptom Ontology"^^xsd:string ; rdfs:label "obsolete steatorrhea"^^xsd:string ; owl:deprecated true . obo:DOID_10603 oboInOwl:hasDbXref "ICD10CM:R73.03"^^xsd:string, "MESH:D018149"^^xsd:string, "NCI:C34646"^^xsd:string, "SNOMEDCT_US_2021_03_01:267426009"^^xsd:string, "UMLS_CUI:C0271650"^^xsd:string ; oboInOwl:hasExactSynonym "Glucose: intolerance"@en, "Glucose: malabsorption"@en, "Malabsorption of glucose"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "glucose intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_4195 . obo:DOID_10604 obo:IAO_0000115 "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E73"^^xsd:string, "MESH:D007787"^^xsd:string, "NCI:C3154"^^xsd:string, "OMIM:223100"^^xsd:string, "SNOMEDCT_US_2021_03_01:267497007"^^xsd:string, "UMLS_CUI:C0022951"^^xsd:string ; oboInOwl:hasExactSynonym "LM - Lactose malabsorption"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10604"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "lactose intolerance"^^xsd:string ; rdfs:subClassOf obo:DOID_2978 ; skos:exactMatch "MESH:D007787"^^xsd:string . obo:DOID_10605 obo:IAO_0000115 "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012778"^^xsd:string, "NCI:C99059"^^xsd:string, "SNOMEDCT_US_2021_03_01:204768009"^^xsd:string, "UMLS_CUI:C0036992"^^xsd:string ; oboInOwl:hasExactSynonym "acquired short bowel syndrome"@en, "short gut syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10605"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "short bowel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10606 obo:IAO_0000115 "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K90.2"^^xsd:string, "ICD9CM:579.2"^^xsd:string, "MESH:D001765"^^xsd:string, "NCI:C34431"^^xsd:string, "SNOMEDCT_US_2021_03_01:77225009"^^xsd:string, "UMLS_CUI:C0005750"^^xsd:string ; oboInOwl:hasExactSynonym "Bacterial overgrowth syndrome"@en, "Blind loop syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10606"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blind loop syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10607 oboInOwl:hasDbXref "GARD:7824"^^xsd:string, "ICD10CM:K90.1"^^xsd:string, "ICD9CM:579.1"^^xsd:string, "MESH:D013182"^^xsd:string, "NCI:C45428"^^xsd:string, "SNOMEDCT_US_2021_03_01:155846005"^^xsd:string, "UMLS_CUI:C0038054"^^xsd:string ; oboInOwl:hasExactSynonym "Sprue - tropical"@en, "Tropical steatorrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10607"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tropical sprue"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000147 ] . obo:DOID_10608 obo:IAO_0000115 "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001060"^^xsd:string, "GARD:11998"^^xsd:string, "ICD10CM:K90.0"^^xsd:string, "ICD9CM:579.0"^^xsd:string, "MESH:D002446"^^xsd:string, "NCI:C26714"^^xsd:string, "OMIM:607202"^^xsd:string, "OMIM:609754"^^xsd:string, "OMIM:611598"^^xsd:string, "OMIM:612005"^^xsd:string, "OMIM:612006"^^xsd:string, "OMIM:612007"^^xsd:string, "OMIM:612008"^^xsd:string, "OMIM:612009"^^xsd:string, "OMIM:612011"^^xsd:string, "ORDO:555"^^xsd:string, "SNOMEDCT_US_2021_03_01:197477005"^^xsd:string, "UMLS_CUI:C0007570"^^xsd:string ; oboInOwl:hasExactSynonym "celiac sprue"@en, "coeliac disease"@en, "idiopathic steatorrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10608"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "celiac disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_10609 obo:IAO_0000115 "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11672"^^xsd:string ; oboInOwl:hasDbXref "GARD:5700"^^xsd:string, "ICD10CM:E55.0"^^xsd:string, "MESH:D012279"^^xsd:string, "NCI:C26878"^^xsd:string, "SNOMEDCT_US_2021_03_01:190639009"^^xsd:string, "UMLS_CUI:C0035579"^^xsd:string ; oboInOwl:hasExactSynonym "active rickets"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10609"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "rickets"^^xsd:string ; rdfs:subClassOf obo:DOID_0080005 ; skos:exactMatch "MESH:D012279"^^xsd:string . obo:DOID_1061 oboInOwl:hasExactSynonym "inborn renal aminoaciduria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1061"^^xsd:string ; a owl:Class ; rdfs:label "obsolete renal aminoaciduria"^^xsd:string ; owl:deprecated true . obo:DOID_10610 oboInOwl:hasDbXref "ICD10CM:K90.3"^^xsd:string, "ICD9CM:579.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:155845009"^^xsd:string, "UMLS_CUI:C0152166"^^xsd:string ; oboInOwl:hasExactSynonym "pancreatic steatorrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10610"^^xsd:string ; a owl:Class ; rdfs:label "pancreatic steatorrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000147 ] . obo:DOID_10611 oboInOwl:hasDbXref "MESH:D011504"^^xsd:string, "OMIM:226300"^^xsd:string, "SNOMEDCT_US_2021_03_01:66972006"^^xsd:string, "UMLS_CUI:C0033680"^^xsd:string ; oboInOwl:hasExactSynonym "Enteropathy, exudative"@en, "Exudative enteropathy"@en, "Protein-losing enteropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10611"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "protein-losing enteropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_10612 obo:IAO_0000115 "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L50.0"^^xsd:string, "ICD9CM:708.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:201260002"^^xsd:string, "UMLS_CUI:C0149526"^^xsd:string ; oboInOwl:hasExactSynonym "Allergic urticaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10612"^^xsd:string ; a owl:Class ; rdfs:label "allergic urticaria"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_1555, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_10615 obo:IAO_0000115 "An acute cervicitis that is caused by gonorrhea."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:098.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:20943002"^^xsd:string, "UMLS_CUI:C0153195"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal cervicitis"@en, "acute gonorrhea of cervix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10615"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal cervicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10616 . obo:DOID_10616 obo:IAO_0000115 "A cervicitis that is characterized by onset within the past 1 - 3 days."^^xsd:string ; oboInOwl:hasDbXref "NCI:C27056"^^xsd:string, "SNOMEDCT_US_2021_03_01:19272000"^^xsd:string, "UMLS_CUI:C0269061"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10616"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute cervicitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2568 . obo:DOID_10619 obo:IAO_0000115 "A lymphatic system cancer that is located_in the lymph node."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10438"^^xsd:string ; oboInOwl:hasDbXref "GARD:6932"^^xsd:string, "NCI:C35497"^^xsd:string, "SNOMEDCT_US_2021_03_01:127232002"^^xsd:string, "UMLS_CUI:C0596869"^^xsd:string ; oboInOwl:hasExactSynonym "lymph node neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10619"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "lymph node cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0060073, obo:DOID_9942 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] ) ] . obo:DOID_1062 obo:IAO_0000115 "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5956"^^xsd:string ; oboInOwl:hasDbXref "GARD:9118"^^xsd:string, "MESH:D005198"^^xsd:string, "NCI:C3034"^^xsd:string, "NCI:C4377"^^xsd:string, "OMIM:PS134600"^^xsd:string, "ORDO:3337"^^xsd:string, "SNOMEDCT_US_2021_03_01:236468006"^^xsd:string, "SNOMEDCT_US_2021_03_01:40488004"^^xsd:string, "UMLS_CUI:C0015624"^^xsd:string, "UMLS_CUI:C0341703"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital Fanconi syndrome"@en, "De Toni-Fanconi syndrome"@en, "Fanconi-de Toni syndrome"@en, "Fanconi-de-Toni syndrome"@en, "Infantile nephropathic cystinosis"@en, "Lignac-Fanconi syndrome"@en, "adult Fanconi Anemia"@en, "adult Fanconi syndrome"@en, "deToni Fanconi syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1062"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Fanconi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_447 ; skos:exactMatch "MESH:D005198"^^xsd:string . obo:DOID_10621 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10621"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fissure of nipple associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_10626 oboInOwl:hasExactSynonym "Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis"@en, "type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10626"^^xsd:string ; a owl:Class ; rdfs:label "obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis"^^xsd:string ; owl:deprecated true . obo:DOID_10627 oboInOwl:hasDbXref "ICD10CM:H47.21"^^xsd:string, "ICD9CM:377.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:21098003"^^xsd:string, "UMLS_CUI:C0155291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10627"^^xsd:string ; a owl:Class ; rdfs:label "primary optic atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_10629 obo:IAO_0000115 "An eye disease where one or both eyeballs are abnormally small."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10650"^^xsd:string ; oboInOwl:hasDbXref "GARD:12085"^^xsd:string, "ICD10CM:Q11.2"^^xsd:string, "ICD9CM:743.1"^^xsd:string, "MESH:D008850"^^xsd:string, "NCI:C98989"^^xsd:string, "SNOMEDCT_US_2021_03_01:156902006"^^xsd:string, "UMLS_CUI:C0026010"^^xsd:string ; oboInOwl:hasExactSynonym "microphthalmos"@en, "simple microphthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10629"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "microphthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_1063 oboInOwl:hasDbXref "ICD10CM:N12"^^xsd:string, "MESH:D009395"^^xsd:string, "NCI:C26834"^^xsd:string, "SNOMEDCT_US_2021_03_01:28689008"^^xsd:string, "UMLS_CUI:C0027707"^^xsd:string ; oboInOwl:hasExactSynonym "renal tubulo-interstitial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1063"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "interstitial nephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10952 . obo:DOID_10630 oboInOwl:hasExactSynonym "optic atrophy associated with retinal dystrophies"@en, "optic atrophy associated with retinal dystrophy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10630"^^xsd:string ; a owl:Class ; rdfs:label "obsolete optic atrophy associated with retinal dystrophy"^^xsd:string ; owl:deprecated true . obo:DOID_10631 oboInOwl:hasDbXref "ICD9CM:377.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:194044005"^^xsd:string, "UMLS_CUI:C0155295"^^xsd:string ; oboInOwl:hasExactSynonym "Partial optic atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10631"^^xsd:string ; a owl:Class ; rdfs:label "partial optic atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_5723 . obo:DOID_10632 obo:IAO_0000115 "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness."^^xsd:string ; oboInOwl:hasDbXref "GARD:7898"^^xsd:string, "MESH:D014929"^^xsd:string, "NCI:C35133"^^xsd:string, "ORDO:3463"^^xsd:string, "SNOMEDCT_US_2021_03_01:70694009"^^xsd:string, "UMLS_CUI:C0043207"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10632"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Wolfram syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_1064 obo:IAO_0000115 "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17."^^xsd:string ; oboInOwl:hasDbXref "GARD:6236"^^xsd:string, "MESH:D003554"^^xsd:string, "NCI:C129932"^^xsd:string, "OMIM:219750"^^xsd:string, "OMIM:219800"^^xsd:string, "OMIM:219900"^^xsd:string, "ORDO:213"^^xsd:string, "SNOMEDCT_US_2021_03_01:62332007"^^xsd:string, "UMLS_CUI:C2931187"^^xsd:string ; oboInOwl:hasExactSynonym "cystine storage disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1064"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cystinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_3211, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_10645 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10645"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic state latent schizophrenia with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_10646 obo:IAO_0000115 "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F21"^^xsd:string, "ICD9CM:301.22"^^xsd:string, "MESH:D012569"^^xsd:string, "NCI:C92632"^^xsd:string, "SNOMEDCT_US_2021_03_01:231486008"^^xsd:string, "UMLS_CUI:C0036363"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10646"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schizotypal personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10648 oboInOwl:hasDbXref "ICD9CM:410.30"^^xsd:string, "UMLS_CUI:C0155640"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10648"^^xsd:string ; a owl:Class ; rdfs:label "acute inferoposterior infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10649 oboInOwl:hasDbXref "ICD9CM:410.20"^^xsd:string, "UMLS_CUI:C0155636"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10649"^^xsd:string ; a owl:Class ; rdfs:label "acute inferolateral myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10651 oboInOwl:hasDbXref "ICD9CM:410.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:70211005"^^xsd:string, "UMLS_CUI:C0155627"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10651"^^xsd:string ; a owl:Class ; rdfs:label "acute anterolateral myocardial infarction"^^xsd:string ; rdfs:subClassOf obo:DOID_9408 . obo:DOID_10652 obo:IAO_0000115 "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000249"^^xsd:string, "GARD:10254"^^xsd:string, "ICD10CM:G30"^^xsd:string, "ICD9CM:331.0"^^xsd:string, "KEGG:05010"^^xsd:string, "MESH:D000544"^^xsd:string, "NCI:C2866"^^xsd:string, "SNOMEDCT_US_2021_03_01:73768007"^^xsd:string, "UMLS_CUI:C0002395"^^xsd:string ; oboInOwl:hasExactSynonym "Alzheimer disease"@en, "Alzheimers dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10652"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Alzheimer's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_680 . obo:DOID_10655 oboInOwl:hasDbXref "NCI:C5493"^^xsd:string, "UMLS_CUI:C0940607"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Lipoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10655"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoma of colon"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, obo:DOID_6460, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_10656 oboInOwl:hasDbXref "NCI:C5492"^^xsd:string, "UMLS_CUI:C1333092"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colon leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] . obo:DOID_10657 oboInOwl:hasDbXref "NCI:C5500"^^xsd:string, "UMLS_CUI:C1333094"^^xsd:string ; oboInOwl:hasExactSynonym "Colonic Lymphangioma"@en, "Lymphangioma of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10657"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "colonic lymphangioma"^^xsd:string ; rdfs:subClassOf obo:DOID_235 . obo:DOID_10659 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10659"^^xsd:string ; a owl:Class ; rdfs:label "obsolete colonic ganglioneuroma"^^xsd:string ; owl:deprecated true . obo:DOID_1066 oboInOwl:hasDbXref "ICD10CM:H40.15"^^xsd:string, "ICD9CM:365.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:66990007"^^xsd:string, "UMLS_CUI:C0154944"^^xsd:string ; oboInOwl:hasExactSynonym "Open-angle glaucoma residual stage"@en, "Residual stage of open angle glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1066"^^xsd:string ; a owl:Class ; rdfs:label "residual stage of open angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1067 . obo:DOID_10660 obo:IAO_0000115 "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6628"^^xsd:string, "UMLS_CUI:C1334673"^^xsd:string ; oboInOwl:hasExactSynonym "neuroblastoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10660"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4691 . obo:DOID_10661 oboInOwl:hasDbXref "NCI:C6627"^^xsd:string, "UMLS_CUI:C1334653"^^xsd:string ; oboInOwl:hasExactSynonym "Ganglioneuroblastoma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10661"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum ganglioneuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_4691 . obo:DOID_1067 obo:IAO_0000115 "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004190"^^xsd:string, "ICD10CM:H40.1"^^xsd:string, "ICD9CM:365.1"^^xsd:string, "MESH:D005902"^^xsd:string, "NCI:C34641"^^xsd:string, "OMIM:137750"^^xsd:string, "OMIM:177700"^^xsd:string, "OMIM:602429"^^xsd:string, "OMIM:603383"^^xsd:string, "OMIM:606689"^^xsd:string, "OMIM:608695"^^xsd:string, "OMIM:608696"^^xsd:string, "OMIM:609745"^^xsd:string, "OMIM:609887"^^xsd:string, "OMIM:610535"^^xsd:string, "OMIM:611274"^^xsd:string, "OMIM:611276"^^xsd:string, "OMIM:613100"^^xsd:string, "SNOMEDCT_US_2021_03_01:84494001"^^xsd:string, "UMLS_CUI:C0017612"^^xsd:string ; oboInOwl:hasExactSynonym "Wide-angle glaucoma"@en, "glaucoma simplex"@en, "open angle glaucoma"@en, "pigmentary glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1067"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "open-angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_1068 obo:IAO_0000115 "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures."^^xsd:string ; oboInOwl:hasDbXref "OMIM:137750"^^xsd:string, "ORDO:98977"^^xsd:string ; oboInOwl:hasExactSynonym "Glaucoma of childhood"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1068"^^xsd:string ; a owl:Class ; rdfs:label "juvenile glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_1070, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_10685 obo:IAO_0000115 "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10685"^^xsd:string ; a owl:Class ; rdfs:label "separation anxiety disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030 . obo:DOID_10686 obo:IAO_0000115 "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N64.89"^^xsd:string, "ICD9CM:611.5"^^xsd:string, "MESH:C535998"^^xsd:string, "NCI:C3515"^^xsd:string, "SNOMEDCT_US_2021_03_01:42385006"^^xsd:string, "UMLS_CUI:C0152243"^^xsd:string ; oboInOwl:hasExactSynonym "Galactocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10686"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lactocele"^^xsd:string ; rdfs:subClassOf obo:DOID_10350 . obo:DOID_10688 obo:IAO_0000115 "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N62"^^xsd:string, "ICD9CM:611.1"^^xsd:string, "NCI:C3125"^^xsd:string, "SNOMEDCT_US_2021_03_01:43336006"^^xsd:string, "UMLS_CUI:C0020565"^^xsd:string ; oboInOwl:hasExactSynonym "breasts enlarged"@en, "large breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10688"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertrophy of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_10689 oboInOwl:hasExactSynonym "GALACTORRHEA"@en, "Galactorrhea due to non-obstetric cause (disorder)"@en, "Galactorrhea not associated with childbirth (disorder)"@en, "Galactorrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10689"^^xsd:string ; a owl:Class ; rdfs:label "obsolete galactorrhea not associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_10690 obo:IAO_0000115 "A breast disease characterized by painful infection of the breast tissue."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008413"^^xsd:string, "NCI:C53662"^^xsd:string, "SNOMEDCT_US_2021_03_01:155952005"^^xsd:string, "UMLS_CUI:C0024894"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory breast disease"@en, "Inflammatory disease of breast"@en, "breast inflammation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10690"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mastitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_10691 obo:IAO_0000115 "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N64.1"^^xsd:string, "ICD9CM:611.3"^^xsd:string, "NCI:C3661"^^xsd:string, "SNOMEDCT_US_2021_03_01:21381006"^^xsd:string, "UMLS_CUI:C0156321"^^xsd:string ; oboInOwl:hasExactSynonym "breast Fat necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10691"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fat necrosis of breast"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_10697 oboInOwl:hasDbXref "ICD9CM:360.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:193269007"^^xsd:string, "UMLS_CUI:C0154774"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10697"^^xsd:string ; a owl:Class ; rdfs:label "chronic endophthalmitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9724 . obo:DOID_10699 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected."^^xsd:string ; oboInOwl:hasDbXref "GARD:9815"^^xsd:string, "ICD10CM:B66.4"^^xsd:string, "ICD9CM:121.2"^^xsd:string, "MESH:D010237"^^xsd:string, "NCI:C84995"^^xsd:string, "SNOMEDCT_US_2021_03_01:30369007"^^xsd:string, "UMLS_CUI:C0030424"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Paragonimus"@en, "lung fluke disease"@en, "lung fluke infection"@en, "pulmonary paragonimiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10699"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paragonimiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2529, obo:DOID_409, obo:DOID_883, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002106 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_34503 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000047 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_1070 obo:IAO_0000115 "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.11"^^xsd:string, "ICD9CM:365.11"^^xsd:string, "MESH:D005902"^^xsd:string, "NCI:C35394"^^xsd:string, "OMIM:137760"^^xsd:string, "SNOMEDCT_US_2021_03_01:77075001"^^xsd:string, "UMLS_CUI:C0339573"^^xsd:string ; oboInOwl:hasExactSynonym "chronic simple glaucoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1070"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "primary open angle glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1067 . obo:DOID_10708 oboInOwl:hasExactSynonym "Passive-aggressive personality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "passive-aggressive personality disorder"@en ; oboInOwl:id "DOID:10708"^^xsd:string ; a owl:Class ; rdfs:label "obsolete passive-aggressive personality disorder"^^xsd:string ; owl:deprecated true . obo:DOID_10717 oboInOwl:hasExactSynonym "Meningococcal septicaemia"@en, "Meningococcemia"@en, "Meningococcemia (disorder)"@en, "Meningococcemia, unspecified (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10717"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete meningococcal septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_10718 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A07.1"^^xsd:string, "ICD9CM:007.1"^^xsd:string, "MEDDRA:0017536"^^xsd:string, "MESH:D005873"^^xsd:string, "SNOMEDCT_US_2021_03_01:266176008"^^xsd:string, "UMLS_CUI:C0017536"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Giardia lamblia"@en, "beaver feaver"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10718"^^xsd:string ; a owl:Class ; rdfs:label "giardiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5741 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000420 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_10719 oboInOwl:hasDbXref "GARD:6549"^^xsd:string, "ICD9CM:242.00"^^xsd:string, "UMLS_CUI:C0154138"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10719"^^xsd:string ; a owl:Class ; rdfs:label "toxic diffuse goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_7998 . obo:DOID_1073 oboInOwl:hasDbXref "MESH:D006977"^^xsd:string, "NCI:C3121"^^xsd:string, "SNOMEDCT_US_2021_03_01:194775007"^^xsd:string, "UMLS_CUI:C0020544"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1073"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "renal hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_11130, obo:DOID_557 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_10763 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_10731 obo:IAO_0000115 "A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10731"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete nodular lung tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_1074 obo:IAO_0000115 "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N19"^^xsd:string, "ICD9CM:586"^^xsd:string, "MESH:D051437"^^xsd:string, "NCI:C4376"^^xsd:string, "SNOMEDCT_US_2021_03_01:42399005"^^xsd:string, "UMLS_CUI:C0035078"^^xsd:string ; oboInOwl:hasExactSynonym "renal failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1074"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "kidney failure"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_10742 oboInOwl:hasDbXref "ICD9CM:330.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:16517004"^^xsd:string, "UMLS_CUI:C0007788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10742"^^xsd:string ; a owl:Class ; rdfs:label "cerebral lipidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_10744 obo:IAO_0000115 "A uterine adnexa cancer that is located_in the broad ligament."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.1"^^xsd:string, "ICD9CM:183.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93728003"^^xsd:string, "UMLS_CUI:C0346866"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of broad ligament of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10744"^^xsd:string ; a owl:Class ; rdfs:label "broad ligament malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_11747 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012332 ] ) ] . obo:DOID_10747 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10747"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lymphoid leukemia"^^xsd:string ; owl:deprecated true . obo:DOID_1075 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1075"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic pyelonephritis with lesion of renal medullary necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_10754 obo:IAO_0000115 "A otitis which involves inflammation of the middle ear."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H66.9"^^xsd:string, "ICD9CM:382.9"^^xsd:string, "MESH:D010033"^^xsd:string, "NCI:C34885"^^xsd:string, "SNOMEDCT_US_2021_03_01:65363002"^^xsd:string, "UMLS_CUI:C0029882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10754"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_5100 . obo:DOID_10755 obo:IAO_0000115 "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14013"^^xsd:string, "DOID:14014"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H70.2"^^xsd:string, "ICD10CM:H70.21"^^xsd:string, "ICD10CM:H70.22"^^xsd:string, "ICD9CM:383.2"^^xsd:string, "ICD9CM:383.21"^^xsd:string, "ICD9CM:383.22"^^xsd:string, "MESH:D059270"^^xsd:string, "SNOMEDCT_US_2021_03_01:155233009"^^xsd:string, "SNOMEDCT_US_2021_03_01:28593007"^^xsd:string, "SNOMEDCT_US_2021_03_01:51211002"^^xsd:string, "UMLS_CUI:C0155448"^^xsd:string, "UMLS_CUI:C0155449"^^xsd:string, "UMLS_CUI:C0155450"^^xsd:string ; oboInOwl:hasExactSynonym "acute petrositis"@en, "chronic petrositis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "inflammation of petrous bone"@en ; oboInOwl:id "DOID:10755"^^xsd:string ; a owl:Class ; rdfs:label "petrositis"^^xsd:string ; rdfs:subClassOf obo:DOID_1019 . obo:DOID_1076 oboInOwl:hasDbXref "ICD10CM:N11"^^xsd:string, "ICD9CM:590.0"^^xsd:string, "NCI:C123216"^^xsd:string, "SNOMEDCT_US_2021_03_01:123293005"^^xsd:string, "UMLS_CUI:C0085697"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1076"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic pyelonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_11400 . obo:DOID_10760 oboInOwl:hasExactSynonym "Choroidal rupture (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10760"^^xsd:string ; a owl:Class ; rdfs:label "obsolete choroidal rupture"^^xsd:string ; owl:deprecated true . obo:DOID_10762 oboInOwl:hasDbXref "GARD:8229"^^xsd:string, "ICD10CM:K76.6"^^xsd:string, "ICD9CM:572.3"^^xsd:string, "MESH:D006975"^^xsd:string, "NCI:C3119"^^xsd:string, "SNOMEDCT_US_2021_03_01:155821005"^^xsd:string, "UMLS_CUI:C0020541"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10762"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "portal hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_272 . obo:DOID_10763 obo:IAO_0000115 "An artery disease characterized by chronic elevated blood pressure in the arteries."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000537"^^xsd:string, "ICD10CM:I10"^^xsd:string, "ICD9CM:401-405.99"^^xsd:string, "MESH:D006973"^^xsd:string, "NCI:C3117"^^xsd:string, "SNOMEDCT_US_2021_03_01:38341003"^^xsd:string, "UMLS_CUI:C0020538"^^xsd:string ; oboInOwl:hasExactSynonym "HTN"@en, "High blood pressure"@en, "hyperpiesia"@en, "vascular hypertensive disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hypertensive disease"@en ; oboInOwl:id "DOID:10763"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828 . obo:DOID_10764 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10764"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liver abscess and sequelae of chronic liver disease"^^xsd:string ; owl:deprecated true . obo:DOID_1077 obo:IAO_0000115 "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11679"^^xsd:string ; oboInOwl:hasExactSynonym "filarial infectious disease and dracontiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1077"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Spirurida infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10772 oboInOwl:hasDbXref "GARD:9430"^^xsd:string, "ICD10CM:M31.1"^^xsd:string, "MESH:D011697"^^xsd:string, "NCI:C78797"^^xsd:string, "OMIM:274150"^^xsd:string, "SNOMEDCT_US_2021_03_01:360402008"^^xsd:string, "UMLS_CUI:C0034155"^^xsd:string ; oboInOwl:hasExactSynonym "Moschcowitz's syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10772"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thrombotic thrombocytopenic purpura"^^xsd:string ; rdfs:subClassOf obo:DOID_2452 . obo:DOID_10773 obo:IAO_0000115 "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050068"^^xsd:string ; oboInOwl:hasDbXref "GARD:183"^^xsd:string, "ICD10CM:A20.0"^^xsd:string, "ICD9CM:020.0"^^xsd:string, "MESH:D010930"^^xsd:string, "SNOMEDCT_US_2021_03_01:50797007"^^xsd:string, "UMLS_CUI:C0282312"^^xsd:string ; oboInOwl:hasExactSynonym "black death"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10773"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "bubonic plague"^^xsd:string ; rdfs:subClassOf obo:DOID_3482, obo:DOID_9942, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000023 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000116 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] . obo:DOID_10774 oboInOwl:hasExactSynonym "cellulocutaneous plague"@en, "cellulocutaneous plague (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10774"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete cutaneous plague"^^xsd:string ; owl:deprecated true . obo:DOID_10778 oboInOwl:hasDbXref "ICD10CM:I40.1"^^xsd:string, "ICD9CM:422.91"^^xsd:string, "SNOMEDCT_US_2021_03_01:194954007"^^xsd:string, "UMLS_CUI:C0155689"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic myocarditis"@en, "Isolated (Fiedler's) myocarditis"@en, "fiedler myocarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10778"^^xsd:string ; a owl:Class ; rdfs:label "fiedler's myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3951, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ] . obo:DOID_10779 obo:IAO_0000115 "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I40.0"^^xsd:string, "ICD9CM:422.92"^^xsd:string, "SNOMEDCT_US_2021_03_01:64043005"^^xsd:string, "UMLS_CUI:C0155690"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10779"^^xsd:string ; a owl:Class ; rdfs:label "septic myocarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_3951, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ] . obo:DOID_1078 obo:IAO_0000115 "A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4192"^^xsd:string ; oboInOwl:hasExactSynonym "secernentea infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1078"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Chromadorea infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10780 obo:IAO_0000115 "A polycythemia that_has_material_basis in factors intrinsic to red cell precursors."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D75.0"^^xsd:string, "ICD9CM:289.6"^^xsd:string, "NCI:C26955"^^xsd:string, "OMIM:PS133100"^^xsd:string, "SNOMEDCT_US_2021_03_01:267571003"^^xsd:string, "UMLS_CUI:C0152264"^^xsd:string ; oboInOwl:hasExactSynonym "Familiar Polycythemia"@en, "familial erythrocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10780"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "primary polycythemia"^^xsd:string ; rdfs:subClassOf obo:DOID_8432 . obo:DOID_10782 oboInOwl:hasDbXref "ICD10CM:I88.0"^^xsd:string, "ICD9CM:289.2"^^xsd:string, "MESH:D008640"^^xsd:string, "NCI:C26830"^^xsd:string, "SNOMEDCT_US_2021_03_01:191376006"^^xsd:string, "UMLS_CUI:C0025469"^^xsd:string ; oboInOwl:hasExactSynonym "Mesenteric adenitis"@en, "Mesenteric lymphadenitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10782"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mesenteric lymphadenitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1602 . obo:DOID_10783 oboInOwl:hasDbXref "ICD10CM:D74"^^xsd:string, "ICD9CM:289.7"^^xsd:string, "MESH:D008708"^^xsd:string, "NCI:C34817"^^xsd:string, "SNOMEDCT_US_2021_03_01:191386007"^^xsd:string, "UMLS_CUI:C0025637"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10783"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "methemoglobinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2860 . obo:DOID_10784 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050038"^^xsd:string ; oboInOwl:hasExactSynonym "Australian tick typhus"@en, "Rickettsia australis spotted fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "North Queensland tick typhus"@en ; oboInOwl:id "DOID:10784"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Queensland tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_787 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_65647 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_10787 obo:IAO_0000115 "An ovarian dysfunction that is the loss of normal ovarian function before age 40."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E28.31"^^xsd:string, "ICD9CM:256.31"^^xsd:string, "MESH:D008594"^^xsd:string, "NCI:C80099"^^xsd:string, "SNOMEDCT_US_2021_03_01:154713003"^^xsd:string, "UMLS_CUI:C0025322"^^xsd:string ; oboInOwl:hasExactSynonym "Menopause - premature"@en, "Menopause praecox"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10787"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "premature menopause"^^xsd:string ; rdfs:subClassOf obo:DOID_1414 . obo:DOID_10788 oboInOwl:hasExactSynonym "Focal sclerosing osteomyelitis"@en, "Sclerosing osteitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10788"^^xsd:string ; a owl:Class ; rdfs:label "obsolete osteitis condensans"^^xsd:string ; owl:deprecated true . obo:DOID_1079 obo:IAO_0000115 "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria."^^xsd:string ; oboInOwl:hasDbXref "MESH:D012719"^^xsd:string, "SNOMEDCT_US_2021_03_01:4414005"^^xsd:string, "UMLS_CUI:C0036850"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious Disease by Setaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1079"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "setariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080 . obo:DOID_10790 obo:IAO_0000115 "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.1"^^xsd:string, "ICD9CM:473.1"^^xsd:string, "NCI:C34473"^^xsd:string, "SNOMEDCT_US_2021_03_01:155527004"^^xsd:string, "UMLS_CUI:C0008683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10790"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic frontal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10791 . obo:DOID_10791 obo:IAO_0000115 "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.1"^^xsd:string, "MESH:D015522"^^xsd:string, "NCI:C34626"^^xsd:string, "SNOMEDCT_US_2021_03_01:275485006"^^xsd:string, "UMLS_CUI:C0016735"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10791"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050127 . obo:DOID_10792 obo:IAO_0000115 "A maxillary sinusitis which lasts for 12 weeks or more."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.0"^^xsd:string, "ICD9CM:473.0"^^xsd:string, "NCI:C34477"^^xsd:string, "SNOMEDCT_US_2021_03_01:195785003"^^xsd:string, "UMLS_CUI:C0008698"^^xsd:string ; oboInOwl:hasExactSynonym "chronic antritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10792"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic maxillary sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2051 . obo:DOID_10793 obo:IAO_0000115 "A sphenoid sinusitis which lasts for 12 weeks or more."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.3"^^xsd:string, "ICD9CM:473.3"^^xsd:string, "NCI:C34480"^^xsd:string, "SNOMEDCT_US_2021_03_01:155528009"^^xsd:string, "UMLS_CUI:C0008712"^^xsd:string ; oboInOwl:hasExactSynonym "Sphenoidal sinus-chr."@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10793"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic sphenoidal sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_10794 . obo:DOID_10794 obo:IAO_0000115 "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J32.3"^^xsd:string, "MESH:D015524"^^xsd:string, "NCI:C35031"^^xsd:string, "SNOMEDCT_US_2021_03_01:13266007"^^xsd:string, "UMLS_CUI:C0037886"^^xsd:string ; oboInOwl:hasExactSynonym "Sphenoidal sinusitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10794"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sphenoid sinusitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050127 . obo:DOID_10795 oboInOwl:hasExactSynonym "Congenital syphilitic encephalitis (disorder)"@en, "Encephalitis due to congenital syphilis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10795"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete congenital syphilitic encephalitis"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_1080 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B74"^^xsd:string, "ICD9CM:125.9"^^xsd:string, "MESH:D005368"^^xsd:string, "NCI:C34611"^^xsd:string, "SNOMEDCT_US_2021_03_01:50342004"^^xsd:string, "UMLS_CUI:C0016085"^^xsd:string ; oboInOwl:hasExactSynonym "disease due to superfamily Filarioidea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "filariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6295 ] ; skos:exactMatch "MESH:D005368"^^xsd:string . obo:DOID_10802 oboInOwl:hasDbXref "ICD9CM:098.13"^^xsd:string, "SNOMEDCT_US_2021_03_01:186912008"^^xsd:string, "UMLS_CUI:C0153193"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal epididymo-orchitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10802"^^xsd:string ; a owl:Class ; rdfs:label "acute gonococcal epididymo-orchitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9401 . obo:DOID_10803 oboInOwl:hasExactSynonym "Haemophilus meningitis (disorder)"@en, "Hemophilus meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10803"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10808 oboInOwl:hasAlternativeId "DOID:10807"^^xsd:string, "DOID:10809"^^xsd:string, "DOID:12047"^^xsd:string, "DOID:12057"^^xsd:string, "DOID:12068"^^xsd:string, "DOID:12069"^^xsd:string, "DOID:12806"^^xsd:string, "DOID:13124"^^xsd:string, "DOID:13125"^^xsd:string, "DOID:241"^^xsd:string, "DOID:242"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K25"^^xsd:string, "ICD9CM:531"^^xsd:string, "MESH:D013276"^^xsd:string, "NCI:C3388"^^xsd:string, "SNOMEDCT_US_2021_03_01:155681009"^^xsd:string, "UMLS_CUI:C0038358"^^xsd:string ; oboInOwl:hasExactSynonym "acute gastric ulcer with haemorrhage and perforation"@en, "acute gastric ulcer with hemorrhage AND obstruction"@en, "acute gastric ulcer with hemorrhage AND perforation"@en, "acute gastric ulcer with hemorrhage AND with perforation but without obstruction"@en, "acute gastric ulcer with hemorrhage and obstruction"@en, "acute gastric ulcer with hemorrhage and perforation"@en, "acute gastric ulcer with hemorrhage and perforation, with obstruction"@en, "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction"@en, "acute gastric ulcer with hemorrhage, with obstruction"@en, "acute gastric ulcer with hemorrhage, with perforation AND with obstruction"@en, "acute gastric ulcer with perforation"@en, "acute gastric ulcer with perforation AND obstruction"@en, "acute gastric ulcer with perforation, with obstruction"@en, "acute gastric ulcer without hemorrhage and without perforation"@en, "acute gastric ulcer without hemorrhage, without perforation AND without obstruction"@en, "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction"@en, "bleeding acute gastric ulcer"@en, "chronic gastric ulcer without hemorrhage AND without perforation"@en, "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction"@en, "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10808"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastric ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_1081 obo:IAO_0000115 "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies."^^xsd:string ; oboInOwl:hasDbXref "GARD:8216"^^xsd:string, "ICD10CM:B74.4"^^xsd:string, "MESH:D008368"^^xsd:string, "NCI:C84882"^^xsd:string, "SNOMEDCT_US_2021_03_01:240849009"^^xsd:string, "UMLS_CUI:C0024759"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1081"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mansonelliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_10810 oboInOwl:hasDbXref "ICD9CM:726.72"^^xsd:string, "SNOMEDCT_US_2021_03_01:50127006"^^xsd:string, "UMLS_CUI:C0158321"^^xsd:string ; oboInOwl:hasExactSynonym "Tibialis tendinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10810"^^xsd:string ; a owl:Class ; rdfs:label "tibialis tendinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_971 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_971 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0008230 ] ) ] . obo:DOID_10811 obo:IAO_0000115 "A respiratory system cancer that is located_in the nasal cavity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C30.0"^^xsd:string, "ICD9CM:160.0"^^xsd:string, "NCI:C4918"^^xsd:string, "SNOMEDCT_US_2021_03_01:93917007"^^xsd:string, "UMLS_CUI:C0728864"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of nasal cavities"@en, "malignant tumor of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10811"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "nasal cavity cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_2163 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] ) ] . obo:DOID_10812 oboInOwl:hasDbXref "NCI:C7604"^^xsd:string, "UMLS_CUI:C1334923"^^xsd:string ; oboInOwl:hasExactSynonym "Olfactory neuroblastoma of the nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10812"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity olfactory neuroblastoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10811, obo:DOID_369 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_369 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001707 ] ) ] . obo:DOID_10813 oboInOwl:hasDbXref "NCI:C6074"^^xsd:string, "UMLS_CUI:C1334921"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the nasal cavity"@en, "lymphoma of nasal cavity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10813"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nasal cavity lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_10811, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_10815 oboInOwl:hasExactSynonym "recurrent malignant Duodenal neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent duodenal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_10816 obo:IAO_0000115 "A duodenum cancer that derives_from epithelial cells of glandular origin."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7889"^^xsd:string, "SNOMEDCT_US_2021_03_01:408644002"^^xsd:string, "UMLS_CUI:C0278804"^^xsd:string ; oboInOwl:hasExactSynonym "Duodenal adenocarcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10816"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "duodenum adenocarcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_10021, obo:DOID_299, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:CL_0000066 [ a owl:Restriction ; owl:onProperty ; owl:someValuesFrom obo:UBERON_0002530 ] ) ] ] . obo:DOID_10817 oboInOwl:hasDbXref "ICD10CM:F65.52"^^xsd:string, "ICD9CM:302.84"^^xsd:string, "MESH:D012448"^^xsd:string, "NCI:C94358"^^xsd:string, "SNOMEDCT_US_2021_03_01:59394009"^^xsd:string, "UMLS_CUI:C0036913"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10817"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sexual sadism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_10818 oboInOwl:hasExactSynonym "Aseptic leptospiral meningitis"@en, "Aseptic leptospiral meningitis (disorder)"@en, "Leptospiral meningitis (aseptic)"@en, "Leptospiral meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10818"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete leptospiral meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_1082 obo:IAO_0000115 "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions."^^xsd:string ; oboInOwl:hasDbXref "GARD:11908"^^xsd:string, "ICD10CM:B74.8"^^xsd:string, "MESH:D004184"^^xsd:string, "SNOMEDCT_US_2021_03_01:73328005"^^xsd:string, "UMLS_CUI:C0012602"^^xsd:string ; oboInOwl:hasExactSynonym "Dirofilaria infectious disease"@en, "Infection by Dirofilaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1082"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dirofilariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, obo:DOID_850, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ] . obo:DOID_10823 oboInOwl:hasDbXref "ICD9CM:401.0"^^xsd:string, "NCI:C34802"^^xsd:string, "SNOMEDCT_US_2021_03_01:78975002"^^xsd:string, "UMLS_CUI:C0024588"^^xsd:string ; oboInOwl:hasExactSynonym "Accelerated essential hypertension"@en, "malignant Essential hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10823"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant essential hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10825 . obo:DOID_10824 obo:IAO_0000115 "A hypertension that is characterized by rapid onset of extremely high blood pressure."^^xsd:string ; oboInOwl:hasDbXref "MESH:D006974"^^xsd:string, "NCI:C3118"^^xsd:string, "SNOMEDCT_US_2021_03_01:155301003"^^xsd:string, "UMLS_CUI:C0020540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10824"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "malignant hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_10825 obo:IAO_0000115 "A hypertension with no known cause. It is the most common type of hypertension."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I10"^^xsd:string, "ICD9CM:401"^^xsd:string, "MESH:D000075222"^^xsd:string, "NCI:C3478"^^xsd:string, "OMIM:145500"^^xsd:string, "OMIM:603918"^^xsd:string, "OMIM:604329"^^xsd:string, "OMIM:607329"^^xsd:string, "OMIM:608742"^^xsd:string, "OMIM:610261"^^xsd:string, "OMIM:610262"^^xsd:string, "OMIM:610948"^^xsd:string, "OMIM:611014"^^xsd:string, "ORDO:243761"^^xsd:string, "SNOMEDCT_US_2021_03_01:194757006"^^xsd:string, "UMLS_CUI:C0085580"^^xsd:string ; oboInOwl:hasExactSynonym "idiopathic hypertension"@en, "primary hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10825"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "essential hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_10827 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10827"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gender identity disorder in adolescent or adult"^^xsd:string ; owl:deprecated true . obo:DOID_10834 oboInOwl:hasDbXref "ICD10CM:F65.3"^^xsd:string, "ICD9CM:302.82"^^xsd:string, "MESH:D014843"^^xsd:string, "NCI:C94360"^^xsd:string, "SNOMEDCT_US_2021_03_01:192515002"^^xsd:string, "UMLS_CUI:C0042979"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10834"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "voyeurism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_10835 oboInOwl:hasDbXref "ICD9CM:608.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:7864001"^^xsd:string, "UMLS_CUI:C0156315"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10835"^^xsd:string ; a owl:Class ; rdfs:label "chylocele of tunica vaginalis"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_10836 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10836"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus with hyperosmolarity"^^xsd:string ; owl:deprecated true . obo:DOID_10837 oboInOwl:hasExactSynonym "Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled"@en, "Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10837"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled"^^xsd:string ; owl:deprecated true . obo:DOID_10838 oboInOwl:hasExactSynonym "Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled"@en, "Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10838"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled"^^xsd:string ; owl:deprecated true . obo:DOID_10841 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma."^^xsd:string ; oboInOwl:hasDbXref "GARD:10821"^^xsd:string, "ICD10CM:A83.2"^^xsd:string, "ICD9CM:062.2"^^xsd:string, "MESH:D020242"^^xsd:string, "SNOMEDCT_US_2021_03_01:40177004"^^xsd:string, "UMLS_CUI:C0153065"^^xsd:string ; oboInOwl:hasExactSynonym "Neuroinvasive Eastern equine encephalitis virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "EEE"@en ; oboInOwl:id "DOID:10841"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Eastern equine encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10842 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A83.4"^^xsd:string, "ICD9CM:062.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:66454007"^^xsd:string, "UMLS_CUI:C0153066"^^xsd:string ; oboInOwl:hasExactSynonym "Australian X disease"@en, "Australian encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10842"^^xsd:string ; a owl:Class ; rdfs:label "Murray Valley encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11079 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_162997 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10843 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness."^^xsd:string ; oboInOwl:hasDbXref "GARD:7888"^^xsd:string, "ICD10CM:A83.1"^^xsd:string, "ICD9CM:062.1"^^xsd:string, "MESH:D020241"^^xsd:string, "NCI:C85227"^^xsd:string, "SNOMEDCT_US_2021_03_01:47523006"^^xsd:string, "UMLS_CUI:C0153064"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "WEE"@en ; oboInOwl:id "DOID:10843"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Western equine encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11039 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10844 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis."^^xsd:string ; oboInOwl:hasDbXref "GARD:6797"^^xsd:string, "ICD10CM:A83.0"^^xsd:string, "ICD9CM:062.0"^^xsd:string, "MESH:D004672"^^xsd:string, "NCI:C34577"^^xsd:string, "SNOMEDCT_US_2021_03_01:266194002"^^xsd:string, "UMLS_CUI:C0014057"^^xsd:string ; oboInOwl:hasExactSynonym "Japanese B encephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10844"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Japanese encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11072 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_10845 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A83.3"^^xsd:string, "ICD9CM:062.3"^^xsd:string, "MESH:D004674"^^xsd:string, "SNOMEDCT_US_2021_03_01:10429004"^^xsd:string, "UMLS_CUI:C0014060"^^xsd:string ; oboInOwl:hasExactSynonym "Neuroinvasive St. Louis encephalitis virus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10845"^^xsd:string ; a owl:Class ; rdfs:label "St. Louis encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11080 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_7174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000016 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000605 ] . obo:DOID_10846 oboInOwl:hasDbXref "ICD9CM:569.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:235853006"^^xsd:string, "UMLS_CUI:C0267367"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10846"^^xsd:string ; a owl:Class ; rdfs:label "angiodysplasia of intestine"^^xsd:string ; rdfs:subClassOf obo:DOID_2494, obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2494 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_10848 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10848"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intrauterine hypoxia and birth asphyxia"^^xsd:string ; owl:deprecated true . obo:DOID_10849 oboInOwl:hasDbXref "ICD10CM:F65.51"^^xsd:string, "ICD9CM:302.83"^^xsd:string, "MESH:D008398"^^xsd:string, "NCI:C94356"^^xsd:string, "SNOMEDCT_US_2021_03_01:248104007"^^xsd:string, "UMLS_CUI:C0036908"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10849"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sexual masochism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_1085 obo:IAO_0000115 "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:758.2"^^xsd:string, "MESH:D000073842"^^xsd:string, "NCI:C101362"^^xsd:string, "SNOMEDCT_US_2021_03_01:51500006"^^xsd:string, "UMLS_CUI:C0152096"^^xsd:string ; oboInOwl:hasExactSynonym "Complete trisomy 18 syndrome"@en, "E3 Trisomy"@en, "trisomy 18"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1085"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Edwards syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429 . obo:DOID_10852 obo:IAO_0000115 "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:385.82"^^xsd:string, "NCI:C3655"^^xsd:string, "SNOMEDCT_US_2021_03_01:28371001"^^xsd:string, "UMLS_CUI:C0155492"^^xsd:string ; oboInOwl:hasExactSynonym "Cholesterin granuloma"@en, "Cholesterin granuloma of middle ear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10852"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "middle ear cholesterol granuloma"^^xsd:string ; rdfs:subClassOf obo:DOID_10754 . obo:DOID_10854 obo:IAO_0000115 "A mouth disease located_in the salivary gland."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12898"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:527.8"^^xsd:string, "UMLS_CUI:C0029773"^^xsd:string ; oboInOwl:hasExactSynonym "Non-neoplastic Salivary gland disease"@en, "Salivary gland disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10854"^^xsd:string ; a owl:Class ; rdfs:label "salivary gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001044 ] ) ] . obo:DOID_1086 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1086"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital chromosomal disease"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_10863 oboInOwl:hasDbXref "ICD10CM:H49"^^xsd:string, "ICD9CM:378.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:12942001"^^xsd:string, "UMLS_CUI:C0152221"^^xsd:string ; oboInOwl:hasExactSynonym "Incomitant dissociation"@en, "Paralytic strabismus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10863"^^xsd:string ; a owl:Class ; rdfs:label "paralytic squint"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_10864 oboInOwl:hasDbXref "ICD9CM:378.51"^^xsd:string, "MESH:D015840"^^xsd:string, "SNOMEDCT_US_2021_03_01:194118007"^^xsd:string, "UMLS_CUI:C0271370"^^xsd:string ; oboInOwl:hasExactSynonym "Partial third nerve palsy"@en, "Third nerve palsy with pupil sparing"@en, "Third or oculomotor nerve palsy, partial"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10864"^^xsd:string ; a owl:Class ; rdfs:label "partial third-nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_10863 . obo:DOID_10865 oboInOwl:hasDbXref "GARD:9482"^^xsd:string, "MESH:D020434"^^xsd:string, "NCI:C27593"^^xsd:string, "OMIM:100200"^^xsd:string, "SNOMEDCT_US_2021_03_01:82373004"^^xsd:string, "UMLS_CUI:C0271355"^^xsd:string ; oboInOwl:hasExactSynonym "Abducens nerve weakness"@en, "Lateral rectus muscle denervation paresis"@en, "Lateral rectus muscle innervation disorder"@en, "Sixth cranial nerve disorder"@en, "Sixth nerve palsy"@en, "Sixth or abducens nerve palsy"@en, "VIth nerve Paralysis"@en, "VIth nerve disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10865"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "abducens nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3817 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001646 ] ) ] . obo:DOID_10866 oboInOwl:hasDbXref "ICD9CM:378.52"^^xsd:string, "MESH:D015840"^^xsd:string, "SNOMEDCT_US_2021_03_01:194119004"^^xsd:string, "UMLS_CUI:C0271371"^^xsd:string ; oboInOwl:hasExactSynonym "Third nerve palsy with pupil involved"@en, "Third or oculomotor nerve palsy, total"@en, "Total third nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10866"^^xsd:string ; a owl:Class ; rdfs:label "total third-nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_10863 . obo:DOID_10869 oboInOwl:hasExactSynonym "Fourth nerve palsy"@en, "Fourth or trochlear nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10869"^^xsd:string ; a owl:Class ; rdfs:label "fourth cranial nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_10863 . obo:DOID_10871 obo:IAO_0000115 "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision."^^xsd:string ; oboInOwl:hasDbXref "EFO:0001365"^^xsd:string, "ICD10CM:H35.30"^^xsd:string, "ICD9CM:362.50"^^xsd:string, "MESH:D008268"^^xsd:string, "NCI:C84391"^^xsd:string, "OMIM:PS603075"^^xsd:string, "SNOMEDCT_US_2021_03_01:18222007"^^xsd:string, "UMLS_CUI:C0242383"^^xsd:string ; oboInOwl:hasExactSynonym "Age Related Maculopathies"@en, "Age Related Maculopathy"@en, "Senile macular degeneration"@en, "Senile macular retinal degeneration"@en, "age-related macular degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10871"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "age related macular degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_2007, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_10873 oboInOwl:hasDbXref "ICD10CM:H35.32"^^xsd:string, "ICD9CM:362.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:11290001"^^xsd:string, "UMLS_CUI:C0271084"^^xsd:string ; oboInOwl:hasExactSynonym "Exudative senile macular degeneration of retina"@en, "Neovascular age-related macular degeneration"@en, "Senile macular degeneration, wet"@en, "Wet senile macular retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10873"^^xsd:string ; a owl:Class ; rdfs:label "Kuhnt-Junius degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_2007 . obo:DOID_10875 oboInOwl:hasExactSynonym "LABOR PREMATURE"@en, "Labour - premature"@en, "Premature labor (finding)"@en, "Premature labour"@en, "premature labor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10875"^^xsd:string ; a owl:Class ; rdfs:label "obsolete premature labor"^^xsd:string ; owl:deprecated true . obo:DOID_10877 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10877"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorganized type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_1088 obo:IAO_0000115 "A spina bifida that is characterized by herniation of the meninges between the vertebrae."^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:268308005"^^xsd:string, "UMLS_CUI:C0025299"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1088"^^xsd:string ; a owl:Class ; rdfs:label "meningocele"^^xsd:string ; rdfs:subClassOf obo:DOID_0080016 ; skos:exactMatch "MESH:D008588"^^xsd:string . obo:DOID_10880 oboInOwl:hasDbXref "ICD10CM:I80.21"^^xsd:string, "ICD9CM:451.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:840713005"^^xsd:string, "UMLS_CUI:C0155772"^^xsd:string ; oboInOwl:hasExactSynonym "Phlebitis and thrombophlebitis of the iliac vein"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10880"^^xsd:string ; a owl:Class ; rdfs:label "iliac vein thrombophlebitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3875 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3875 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005610 ] ) ] . obo:DOID_10881 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.4"^^xsd:string, "ICD9CM:074.3"^^xsd:string, "MESH:D006232"^^xsd:string, "NCI:C128439"^^xsd:string, "SNOMEDCT_US_2021_03_01:175497008"^^xsd:string, "UMLS_CUI:C0018572"^^xsd:string ; oboInOwl:hasExactSynonym "Vesicular stomatitis and exanthem"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10881"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hand, foot and mouth disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_31704 obo:NCBITaxon_39054 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000487 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000165 obo:UBERON_0002387 obo:UBERON_0002398 ) ] ] . obo:DOID_10882 obo:IAO_0000115 "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B33.0"^^xsd:string, "ICD9CM:074.1"^^xsd:string, "MESH:D011000"^^xsd:string, "SNOMEDCT_US_2021_03_01:83264000"^^xsd:string, "UMLS_CUI:C0032238"^^xsd:string ; oboInOwl:hasExactSynonym "Bamble disease"@en, "Bornholm disease"@en, "Epidemic pleurisy"@en, "Epidemic, myositis"@en, "devil's grip"@en, "epidemic myalgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10882"^^xsd:string ; a owl:Class ; rdfs:label "epidemic pleurodynia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080000, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_138949 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002385 ] . obo:DOID_10883 obo:IAO_0000115 "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B08.5"^^xsd:string, "ICD9CM:074.0"^^xsd:string, "MESH:D006557"^^xsd:string, "SNOMEDCT_US_2021_03_01:154358007"^^xsd:string, "UMLS_CUI:C0019338"^^xsd:string ; oboInOwl:hasExactSynonym "Vesicular pharyngitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10883"^^xsd:string ; a owl:Class ; rdfs:label "herpangina"^^xsd:string ; rdfs:subClassOf obo:DOID_403, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_31704 obo:NCBITaxon_39054 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000008 obo:TRANS_0000012 ) ] ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_934 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000167 ] ) ] . obo:DOID_10887 obo:IAO_0000115 "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.5"^^xsd:string, "ICD9CM:030.0"^^xsd:string, "MESH:D015440"^^xsd:string, "SNOMEDCT_US_2021_03_01:21560005"^^xsd:string, "UMLS_CUI:C0023348"^^xsd:string ; oboInOwl:hasExactSynonym "Lepromatous leprosy"@en, "type L leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10887"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "lepromatous leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_1089 oboInOwl:hasDbXref "GARD:4018"^^xsd:string, "SNOMEDCT_US_2021_03_01:282784007"^^xsd:string, "UMLS_CUI:C0560648"^^xsd:string ; oboInOwl:hasExactSynonym "spinal dysraphism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1089"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tethered spinal cord syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_319 ; skos:exactMatch "NCI:C99080"^^xsd:string . obo:DOID_10892 obo:IAO_0000115 "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q54"^^xsd:string, "MESH:D007021"^^xsd:string, "NCI:C40341"^^xsd:string, "OMIM:146450"^^xsd:string, "OMIM:300633"^^xsd:string, "OMIM:300758"^^xsd:string, "OMIM:300856"^^xsd:string, "ORDO:440"^^xsd:string, "SNOMEDCT_US_2021_03_01:156968008"^^xsd:string, "UMLS_CUI:C0848558"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypospadias"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10892"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypospadias"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_10901 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb"@en, "Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)"@en, "Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10901"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_10902 obo:IAO_0000115 "An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses."^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary actinomycotic infection"@en, "thoracic actinomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10902"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pulmonary actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_10907 obo:IAO_0000115 "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants."^^xsd:string ; oboInOwl:hasDbXref "GARD:3603"^^xsd:string, "GARD:7038"^^xsd:string, "ICD10CM:Q02"^^xsd:string, "ICD9CM:742.1"^^xsd:string, "MESH:D008831"^^xsd:string, "NCI:C85874"^^xsd:string, "SNOMEDCT_US_2021_03_01:156893009"^^xsd:string, "UMLS_CUI:C0025958"^^xsd:string ; oboInOwl:hasExactSynonym "Microcephalus"@en, "microencephaly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10907"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "microcephaly"^^xsd:string ; rdfs:subClassOf obo:DOID_2490 ; skos:exactMatch "MESH:D008831"^^xsd:string . obo:DOID_10908 obo:IAO_0000115 "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head."^^xsd:string ; oboInOwl:hasDbXref "GARD:6682"^^xsd:string, "ICD10CM:G91"^^xsd:string, "MESH:D006849"^^xsd:string, "NCI:C3111"^^xsd:string, "OMIM:123155"^^xsd:string, "OMIM:236600"^^xsd:string, "OMIM:236635"^^xsd:string, "OMIM:307000"^^xsd:string, "OMIM:615219"^^xsd:string, "ORDO:2182"^^xsd:string, "ORDO:2185"^^xsd:string, "SNOMEDCT_US_2021_03_01:267687006"^^xsd:string, "UMLS_CUI:C0020255"^^xsd:string ; oboInOwl:hasExactSynonym "hydrocephalus, X-linked"@en, "hydrocephalus, nonsyndromic, autosomal recessive"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10908"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hydrocephalus"^^xsd:string ; rdfs:subClassOf obo:DOID_1443, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_1091 obo:IAO_0000115 "A mouth disease located_in the teeth."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014076"^^xsd:string, "SNOMEDCT_US_2021_03_01:72722003"^^xsd:string, "UMLS_CUI:C0040435"^^xsd:string ; oboInOwl:hasExactSynonym "teeth disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1091"^^xsd:string ; a owl:Class ; rdfs:label "tooth disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001091 ] ) ] . obo:DOID_10910 obo:IAO_0000115 "A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10910"^^xsd:string ; a owl:Class ; rdfs:label "obsolete echovirus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_10911 obo:IAO_0000115 "An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Enteric cytopathic human orphan virus infection"@en ; oboInOwl:id "DOID:10911"^^xsd:string ; a owl:Class ; rdfs:label "obsolete echovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10913 oboInOwl:hasDbXref "ICD9CM:401.1"^^xsd:string, "NCI:C3656"^^xsd:string, "SNOMEDCT_US_2021_03_01:194758001"^^xsd:string, "UMLS_CUI:C0155583"^^xsd:string ; oboInOwl:hasExactSynonym "benign Essential hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10913"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign essential hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10825 . obo:DOID_10914 obo:IAO_0000115 "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4544"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R41.3"^^xsd:string, "ICD9CM:294.0"^^xsd:string, "MESH:D000647"^^xsd:string, "NCI:C2867"^^xsd:string, "SNOMEDCT_US_2021_03_01:247606008"^^xsd:string, "SNOMEDCT_US_2021_03_01:3298001"^^xsd:string, "UMLS_CUI:C0002622"^^xsd:string, "UMLS_CUI:C0002625"^^xsd:string ; oboInOwl:hasExactSynonym "Amnestic syndrome"@en, "Korsakoff's psychosis or syndrome"@en, "amnesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10914"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "amnestic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1561 . obo:DOID_10915 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020915"^^xsd:string, "NCI:C35764"^^xsd:string, "OMIM:277730"^^xsd:string, "SNOMEDCT_US_2021_03_01:69482004"^^xsd:string, "UMLS_CUI:C0349464"^^xsd:string ; oboInOwl:hasExactSynonym "Korsakoff Syndrome"@en, "Korsakoff's psychosis"@en, "Korsakoff's syndrome"@en, "Korsakov psychosis"@en, "Korsakov's psychosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10915"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Wernicke-Korsakoff syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0070313 . obo:DOID_10918 oboInOwl:hasExactSynonym "Trans-sexualism with asexual history"@en, "Transsexuality with asexual history (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10918"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transsexuality with asexual history"^^xsd:string ; owl:deprecated true . obo:DOID_10919 obo:IAO_0000115 "A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10919"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transsexualism"^^xsd:string ; owl:deprecated true . obo:DOID_10921 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050054"^^xsd:string, "DOID:0050055"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A77.2"^^xsd:string, "ICD9CM:082.2"^^xsd:string, "MESH:D000073605"^^xsd:string, "SNOMEDCT_US_2021_03_01:7692008"^^xsd:string, "UMLS_CUI:C0549160"^^xsd:string ; oboInOwl:hasExactSynonym "North Asian tick fever"@en, "North Asian tick typhus"@en, "Rickettsia sibirica spotted fever"@en, "manchurian typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10921"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Siberian tick typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_35793 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_49202 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_523089 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ] . obo:DOID_10922 oboInOwl:hasExactSynonym "Hb-S disease with mention of crisis"@en, "Hemoglobin S disease with crisis (disorder)"@en, "Hemoglobin SS disease with crisis (disorder)"@en, "Sickle cell anemia with crisis (disorder)"@en, "sickle cell crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10922"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sickle-cell crisis"^^xsd:string ; owl:deprecated true . obo:DOID_10923 obo:IAO_0000115 "A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12924"^^xsd:string, "DOID:13024"^^xsd:string ; oboInOwl:hasDbXref "GARD:8614"^^xsd:string, "ICD10CM:D57.1"^^xsd:string, "ICD10CM:D57.2"^^xsd:string, "ICD9CM:282.6"^^xsd:string, "ICD9CM:282.63"^^xsd:string, "MESH:D000755"^^xsd:string, "MESH:D006450"^^xsd:string, "NCI:C34383"^^xsd:string, "NCI:C34676"^^xsd:string, "OMIM:603903"^^xsd:string, "ORDO:232"^^xsd:string, "SNOMEDCT_US_2021_03_01:154798006"^^xsd:string, "SNOMEDCT_US_2021_03_01:35434009"^^xsd:string, "UMLS_CUI:C0002895"^^xsd:string, "UMLS_CUI:C0019034"^^xsd:string ; oboInOwl:hasExactSynonym "Hb SC disease"@en, "Hb-S/Hb-C disease"@en, "Hb-SS disease without crisis"@en, "Hemoglobin S disease without crisis"@en, "Sickle-cell/Hb-C disease without crisis"@en, "drepanocytosis"@en, "haemoglobin SC disease"@en, "hemoglobin SC disease"@en, "sickle cell anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10923"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "sickle cell anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_620, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_10924 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10924"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia chronic state"^^xsd:string ; owl:deprecated true . obo:DOID_10925 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10925"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_10927 oboInOwl:hasAlternativeId "DOID:10926"^^xsd:string, "DOID:10928"^^xsd:string, "DOID:10929"^^xsd:string, "DOID:12230"^^xsd:string, "DOID:12232"^^xsd:string, "DOID:14085"^^xsd:string, "DOID:14137"^^xsd:string, "DOID:9522"^^xsd:string, "DOID:9523"^^xsd:string, "DOID:9524"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K28.0"^^xsd:string, "ICD9CM:534.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:196709002"^^xsd:string, "UMLS_CUI:C0156042"^^xsd:string ; oboInOwl:hasExactSynonym "acute gastrojejunal ulcer with hemorrhage"@en, "acute gastrojejunal ulcer with hemorrhage AND obstruction"@en, "acute gastrojejunal ulcer with hemorrhage AND perforation"@en, "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction"@en, "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction"@en, "acute gastrojejunal ulcer with perforation"@en, "acute gastrojejunal ulcer with perforation AND obstruction"@en, "acute gastrojejunal ulcer with perforation, with obstruction"@en, "acute gastrojejunal ulcer without hemorrhage AND without perforation"@en, "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction"@en, "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction"@en, "acute gastrojejunal ulcer, with hemorrhage, with obstruction"@en, "chronic gastrojejunal ulcer without hemorrhage AND without perforation"@en, "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction"@en, "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10927"^^xsd:string ; a owl:Class ; rdfs:label "gastrojejunal ulcer"^^xsd:string ; rdfs:subClassOf obo:DOID_750 . obo:DOID_10930 obo:IAO_0000115 "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.3"^^xsd:string, "ICD9CM:301.83"^^xsd:string, "MESH:D001883"^^xsd:string, "NCI:C92633"^^xsd:string, "SNOMEDCT_US_2021_03_01:20010003"^^xsd:string, "UMLS_CUI:C0006012"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10930"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "borderline personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10931 obo:IAO_0000115 "A personality disorder that is characterized by a pervasive psychological dependence on other people."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.7"^^xsd:string, "ICD9CM:301.6"^^xsd:string, "MESH:D003859"^^xsd:string, "NCI:C92637"^^xsd:string, "SNOMEDCT_US_2021_03_01:192492003"^^xsd:string, "UMLS_CUI:C0011548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10931"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dependent personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10932 obo:IAO_0000115 "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.5"^^xsd:string, "ICD9CM:301.4"^^xsd:string, "MESH:D003193"^^xsd:string, "NCI:C92638"^^xsd:string, "SNOMEDCT_US_2021_03_01:191761001"^^xsd:string, "UMLS_CUI:C0009595"^^xsd:string ; oboInOwl:hasExactSynonym "OCPD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Anankastic personality disorder"@en ; oboInOwl:id "DOID:10932"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsessive-compulsive personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10933 obo:IAO_0000115 "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F42"^^xsd:string, "ICD9CM:300.3"^^xsd:string, "MESH:D009771"^^xsd:string, "NCI:C88411"^^xsd:string, "SNOMEDCT_US_2021_03_01:71478004"^^xsd:string, "UMLS_CUI:C0028768"^^xsd:string ; oboInOwl:hasExactSynonym "Anancastic neurosis"@en, "obsessive compulsive disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10933"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "obsessive-compulsive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2030 . obo:DOID_10934 obo:IAO_0000115 "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F44.81"^^xsd:string, "ICD9CM:300.14"^^xsd:string, "MESH:D009105"^^xsd:string, "NCI:C94330"^^xsd:string, "SNOMEDCT_US_2021_03_01:31611000"^^xsd:string, "UMLS_CUI:C0026773"^^xsd:string ; oboInOwl:hasExactSynonym "Dissociative identity disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10934"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "multiple personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_10935 . obo:DOID_10935 obo:IAO_0000115 "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4963"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F44.9"^^xsd:string, "ICD10CM:F48.9"^^xsd:string, "ICD9CM:300.15"^^xsd:string, "ICD9CM:300.9"^^xsd:string, "MESH:D004213"^^xsd:string, "NCI:C92197"^^xsd:string, "SNOMEDCT_US_2021_03_01:154883004"^^xsd:string, "UMLS_CUI:C0012746"^^xsd:string, "UMLS_CUI:C0041857"^^xsd:string ; oboInOwl:hasExactSynonym "dissociative disease"@en, "dissociative reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10935"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dissociative disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_10936 obo:IAO_0000115 "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.1"^^xsd:string, "ICD9CM:301.2"^^xsd:string, "MESH:D012557"^^xsd:string, "NCI:C92631"^^xsd:string, "SNOMEDCT_US_2021_03_01:192486009"^^xsd:string, "UMLS_CUI:C0036339"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10936"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schizoid personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10937 obo:IAO_0000115 "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.9"^^xsd:string, "ICD9CM:312.30"^^xsd:string, "MESH:D007174"^^xsd:string, "NCI:C34723"^^xsd:string, "SNOMEDCT_US_2021_03_01:192098008"^^xsd:string, "UMLS_CUI:C0021122"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10937"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "impulse control disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_150 . obo:DOID_10938 obo:IAO_0000115 "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.0"^^xsd:string, "ICD9CM:301.0"^^xsd:string, "MESH:D010260"^^xsd:string, "NCI:C92630"^^xsd:string, "SNOMEDCT_US_2021_03_01:270529002"^^xsd:string, "UMLS_CUI:C0030477"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10938"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranoid personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_10939 obo:IAO_0000115 "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.2"^^xsd:string, "ICD9CM:301.7"^^xsd:string, "MESH:D000987"^^xsd:string, "NCI:C88413"^^xsd:string, "SNOMEDCT_US_2021_03_01:191769004"^^xsd:string, "UMLS_CUI:C0003431"^^xsd:string ; oboInOwl:hasExactSynonym "Asocial personality"@en, "Dissocial personality disorder"@en, "Psychopath.personality"@en, "Psychopathic personality"@en, "Psychopathic personality disorder"@en, "sociopathic personality"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10939"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "antisocial personality disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_1510 . obo:DOID_1094 obo:IAO_0000115 "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1093"^^xsd:string ; oboInOwl:hasDbXref "EFO:0003888"^^xsd:string, "MESH:D001289"^^xsd:string, "OMIM:143465"^^xsd:string, "OMIM:608903"^^xsd:string, "OMIM:608904"^^xsd:string, "OMIM:608905"^^xsd:string, "OMIM:608906"^^xsd:string, "OMIM:612311"^^xsd:string, "OMIM:612312"^^xsd:string, "SNOMEDCT_US_2021_03_01:229713001"^^xsd:string, "UMLS_CUI:C0041671"^^xsd:string ; oboInOwl:hasExactSynonym "ADHD"@en, "attention deficit disorder"@en, "hyperkinetic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1094"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "attention deficit hyperactivity disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060038 . obo:DOID_10941 oboInOwl:hasDbXref "EFO:0003870"^^xsd:string, "MESH:D002532"^^xsd:string, "NCI:C34458"^^xsd:string, "SNOMEDCT_US_2021_03_01:128609009"^^xsd:string, "UMLS_CUI:C0007766"^^xsd:string ; oboInOwl:hasExactSynonym "brain aneurysm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10941"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intracranial aneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_3527 . obo:DOID_10944 obo:IAO_0000115 "A mouth disease located_in the tongue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K14"^^xsd:string, "ICD9CM:529.9"^^xsd:string, "MESH:D014060"^^xsd:string, "NCI:C173793"^^xsd:string, "SNOMEDCT_US_2021_03_01:69244009"^^xsd:string, "UMLS_CUI:C0040409"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10944"^^xsd:string ; a owl:Class ; rdfs:label "tongue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_403 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001723 ] ) ] . obo:DOID_10952 obo:IAO_0000115 "A kidney disease that is characterized by an inflammation of the kidneys."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N08"^^xsd:string, "MESH:D009393"^^xsd:string, "NCI:C26833"^^xsd:string, "SNOMEDCT_US_2021_03_01:52845002"^^xsd:string, "UMLS_CUI:C0027697"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10952"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_10955 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050008"^^xsd:string ; oboInOwl:hasDbXref "GARD:8195"^^xsd:string, "ICD10CM:B78"^^xsd:string, "ICD9CM:127.2"^^xsd:string, "MESH:D013322"^^xsd:string, "NCI:C128398"^^xsd:string, "SNOMEDCT_US_2021_03_01:1214006"^^xsd:string, "UMLS_CUI:C0038463"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Strongyloides"@en, "disseminated strongyloidiasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10955"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "strongyloidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_331, obo:DOID_37, obo:DOID_5295, obo:DOID_850, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001017 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6248 ] . obo:DOID_10957 obo:IAO_0000115 "An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infection due to aerobacter aerogenes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10957"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Enterobacter aerogenes intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10958 obo:IAO_0000115 "A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infectious disease due to arizona group of paracolon bacilli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10958"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella arizonae intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10959 obo:IAO_0000115 "A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infectious disease due to Escherichia coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10959"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_10963 oboInOwl:hasDbXref "ICD10CM:H71.0"^^xsd:string, "ICD9CM:385.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:38708003"^^xsd:string, "UMLS_CUI:C0155489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10963"^^xsd:string ; a owl:Class ; rdfs:label "cholesteatoma of attic"^^xsd:string ; rdfs:subClassOf obo:DOID_10964 . obo:DOID_10964 oboInOwl:hasAlternativeId "DOID:11433"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H71"^^xsd:string, "ICD9CM:385.3"^^xsd:string, "ICD9CM:385.32"^^xsd:string, "MESH:D018424"^^xsd:string, "NCI:C3654"^^xsd:string, "SNOMEDCT_US_2021_03_01:39911004"^^xsd:string, "SNOMEDCT_US_2021_03_01:87688009"^^xsd:string, "UMLS_CUI:C0008374"^^xsd:string, "UMLS_CUI:C0155490"^^xsd:string ; oboInOwl:hasExactSynonym "Cholesteatoma of middle ear"@en, "Cholesteatoma of middle ear and mastoid"@en, "Cholesteatoma of middle ear and/or mastoid"@en, "Cholesteatoma of the middle ear"@en, "Epidermosis of ear"@en, "Epidermosis of middle ear"@en, "cholesteatoma"@en, "middle ear cholesteatoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10964"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholesteatoma of middle ear"^^xsd:string ; rdfs:subClassOf obo:DOID_5100, obo:DOID_869 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_869 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001756 ] ) ] . obo:DOID_10965 obo:IAO_0000115 "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3778"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G80.1"^^xsd:string, "ICD9CM:343.0"^^xsd:string, "MESH:D002547"^^xsd:string, "NCI:C34781"^^xsd:string, "SNOMEDCT_US_2021_03_01:1178005"^^xsd:string, "SNOMEDCT_US_2021_03_01:275469001"^^xsd:string, "UMLS_CUI:C0023882"^^xsd:string, "UMLS_CUI:C0154695"^^xsd:string ; oboInOwl:hasExactSynonym "Diplegic infantile cerebral palsy"@en, "Infantile spastic cerebral palsy"@en, "Little's disease"@en, "Littles disease"@en, "cerebral spastic infantile paralysis"@en, "infantile diplegic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10965"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spastic diplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10966 oboInOwl:hasDbXref "ICD10CM:N04"^^xsd:string, "MESH:D009402"^^xsd:string, "NCI:C34844"^^xsd:string, "SNOMEDCT_US_2021_03_01:197592009"^^xsd:string, "UMLS_CUI:C0027721"^^xsd:string ; oboInOwl:hasExactSynonym "Minimal Change Glomerulonephritis"@en, "Minimal change disease"@en, "Nephrotic syndrome with lesion of minimal change glomerulonephritis"@en, "Nephrotic syndrome with lesion of minimal change nephrotic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10966"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoid nephrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1184 . obo:DOID_10967 obo:IAO_0000115 "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally."^^xsd:string ; oboInOwl:hasDbXref "GARD:10448"^^xsd:string, "ICD9CM:343.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:258714003"^^xsd:string, "UMLS_CUI:C0270805"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital hemiplegia"@en, "Hemiplegic cerebral palsy"@en, "Hemiplegic infantile cerebral palsy"@en, "hemiplegic cerebral palsy"@en, "spastic hemiplegic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10967"^^xsd:string ; a owl:Class ; rdfs:label "spastic hemiplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10968 obo:IAO_0000115 "A spastic cerebral palsy that affects only one limb."^^xsd:string ; oboInOwl:hasDbXref "GARD:10446"^^xsd:string, "ICD9CM:343.3"^^xsd:string, "MESH:D002547"^^xsd:string, "UMLS_CUI:C0154698"^^xsd:string ; oboInOwl:hasExactSynonym "Monoplegic infantile cerebral palsy"@en, "infantile monoplegic cerebral palsy"@en, "spastic monoplegic cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10968"^^xsd:string ; a owl:Class ; rdfs:label "spastic monoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10969 obo:IAO_0000115 "A central nervous system disease that is characterized by the complete paralysis of half of the body."^^xsd:string ; oboInOwl:hasDbXref "GARD:6583"^^xsd:string, "ICD9CM:343.4"^^xsd:string, "MESH:D006429"^^xsd:string, "SNOMEDCT_US_2021_03_01:155024003"^^xsd:string, "UMLS_CUI:C0392550"^^xsd:string ; oboInOwl:hasExactSynonym "Infantile hemiplegia"@en, "Postnatal infantile hemiplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10969"^^xsd:string ; a owl:Class ; rdfs:label "hemiplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_1097 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1097"^^xsd:string ; a owl:Class ; rdfs:comment "Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis."^^xsd:string ; rdfs:label "obsolete hydrops fetalis"^^xsd:string ; owl:deprecated true . obo:DOID_10970 obo:IAO_0000115 "A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:343.2"^^xsd:string, "MESH:D002547"^^xsd:string, "OMIM:612900"^^xsd:string, "ORDO:210141"^^xsd:string, "SNOMEDCT_US_2021_03_01:192953000"^^xsd:string, "UMLS_CUI:C0154697"^^xsd:string ; oboInOwl:hasExactSynonym "quadriplegic infantile cerebral palsy"@en, "spastic quadriplegic cerebral palsy"@en, "tetraplegic infantile cerebral palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10970"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "spastic quadriplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050669 . obo:DOID_10971 oboInOwl:hasDbXref "ICD10CM:N70.03"^^xsd:string, "ICD9CM:614.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:155969007"^^xsd:string, "UMLS_CUI:C0156327"^^xsd:string ; oboInOwl:hasExactSynonym "acute salpingitis and oophoritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10971"^^xsd:string ; a owl:Class ; rdfs:label "acute salpingo-oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10972 . obo:DOID_10972 oboInOwl:hasDbXref "ICD10CM:N70"^^xsd:string, "ICD9CM:614.2"^^xsd:string, "NCI:C171201"^^xsd:string, "SNOMEDCT_US_2021_03_01:46536000"^^xsd:string, "UMLS_CUI:C0036133"^^xsd:string ; oboInOwl:hasExactSynonym "Salpingitis/oophoritis"@en, "Tubo-ovarian inflammatory disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10972"^^xsd:string ; a owl:Class ; rdfs:label "salpingo-oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10974 . obo:DOID_10973 oboInOwl:hasDbXref "ICD10CM:N70.01"^^xsd:string, "NCI:C40120"^^xsd:string, "SNOMEDCT_US_2021_03_01:8912009"^^xsd:string, "UMLS_CUI:C0269038"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10973"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5733 . obo:DOID_10974 obo:IAO_0000115 "An ovarian disease that is characterized by inflammation of the ovary."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N70.92"^^xsd:string, "MESH:D009869"^^xsd:string, "SNOMEDCT_US_2021_03_01:266648001"^^xsd:string, "UMLS_CUI:C0029051"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10974"^^xsd:string ; a owl:Class ; rdfs:label "oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1100 . obo:DOID_10976 oboInOwl:hasDbXref "EFO:0004254"^^xsd:string, "ICD10CM:N03.2"^^xsd:string, "MESH:D015433"^^xsd:string, "NCI:C34645"^^xsd:string, "SNOMEDCT_US_2021_03_01:197710000"^^xsd:string, "UMLS_CUI:C0017665"^^xsd:string ; oboInOwl:hasExactSynonym "membranous nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10976"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "membranous glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_10978 obo:IAO_0000115 "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string ; oboInOwl:hasExactSynonym "acute nonparalytic poliomyelitis poliovirus type III"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10978"^^xsd:string ; a owl:Class ; rdfs:label "obsolete poliovirus type III nonparalytic poliomyelitis"^^xsd:string ; owl:deprecated true . obo:DOID_10979 obo:IAO_0000115 "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string ; oboInOwl:hasExactSynonym "acute nonparalytic poliomyelitis poliovirus type I"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10979"^^xsd:string ; a owl:Class ; rdfs:label "obsolete poliovirus type I nonparalytic poliomyelitis"^^xsd:string ; owl:deprecated true . obo:DOID_1098 oboInOwl:hasDbXref "ICD10CM:P55"^^xsd:string, "ICD9CM:773"^^xsd:string, "MESH:D004899"^^xsd:string, "NCI:C101304"^^xsd:string, "SNOMEDCT_US_2021_03_01:111468003"^^xsd:string, "UMLS_CUI:C0014761"^^xsd:string ; oboInOwl:hasExactSynonym "EF - Erythroblastosis foetalis"@en, "Haemolytic disease due to rhesus isoimmunisation"@en, "erythroblastosis fetalis"@en, "rhesus isoimmunisation of the newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1098"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fetal erythroblastosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11252 . obo:DOID_10980 obo:IAO_0000115 "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms."^^xsd:string ; oboInOwl:hasExactSynonym "acute nonparalytic poliomyelitis poliovirus type II"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10980"^^xsd:string ; a owl:Class ; rdfs:label "obsolete poliovirus type II nonparalytic poliomyelitis"^^xsd:string ; owl:deprecated true . obo:DOID_10983 obo:IAO_0000115 "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss."^^xsd:string ; oboInOwl:hasDbXref "GARD:5785"^^xsd:string, "MESH:D009394"^^xsd:string, "ORDO:63"^^xsd:string, "SNOMEDCT_US_2021_03_01:57333009"^^xsd:string, "UMLS_CUI:C0027706"^^xsd:string ; oboInOwl:hasExactSynonym "Hereditary Nephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10983"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Alport syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_10986 oboInOwl:hasDbXref "ICD10CM:M46.4"^^xsd:string, "MESH:D015299"^^xsd:string, "SNOMEDCT_US_2021_03_01:2304001"^^xsd:string, "UMLS_CUI:C0012624"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10986"^^xsd:string ; a owl:Class ; rdfs:label "discitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1222 . obo:DOID_10989 oboInOwl:hasDbXref "ICD10CM:H11.41"^^xsd:string, "ICD9CM:372.74"^^xsd:string, "NCI:C35116"^^xsd:string, "SNOMEDCT_US_2021_03_01:74100001"^^xsd:string, "UMLS_CUI:C0042370"^^xsd:string ; oboInOwl:hasExactSynonym "Conjunctival vascular abnormality"@en, "vascular abnormalities of conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10989"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "conjunctival vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_4251 . obo:DOID_1099 obo:IAO_0000115 "Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes."^^xsd:string ; oboInOwl:hasDbXref "GARD:621"^^xsd:string, "ICD10CM:D56.0"^^xsd:string, "ICD9CM:282.43"^^xsd:string, "MESH:D017085"^^xsd:string, "NCI:C34368"^^xsd:string, "OMIM:604131"^^xsd:string, "SNOMEDCT_US_2021_03_01:191186002"^^xsd:string, "UMLS_CUI:C0002312"^^xsd:string ; oboInOwl:hasExactSynonym "Alpha thalassaemia"@en, "alpha-Thalassemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1099"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "alpha thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_10241 . obo:DOID_10991 oboInOwl:hasDbXref "MESH:D020144"^^xsd:string, "UMLS_CUI:C0751739"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10991"^^xsd:string ; a owl:Class ; rdfs:label "basal ganglia cerebrovascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_6713 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_6713 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010011 ] ) ] ; skos:exactMatch "MESH:D020144"^^xsd:string . obo:DOID_10992 obo:IAO_0000115 "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema."^^xsd:string ; oboInOwl:hasDbXref "GARD:8629"^^xsd:string, "MESH:D004684"^^xsd:string, "NCI:C84535"^^xsd:string, "OMIM:606752"^^xsd:string, "SNOMEDCT_US_2021_03_01:72986009"^^xsd:string, "UMLS_CUI:C0014077"^^xsd:string ; oboInOwl:hasExactSynonym "AHL"@en, "Weston-Hurst syndrome"@en, "acute haemorrhagic leucoencephalitis of Weston Hurst"@en, "acute hemorrhagic encephalomyelitis"@en, "acute necrotizing hemorrhagic leukoencephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10992"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "acute hemorrhagic leukoencephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_639, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ] . obo:DOID_10993 obo:IAO_0000115 "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection."^^xsd:string ; oboInOwl:hasExactSynonym "Postinfective encephalitis"@en, "secondary encephalitis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10993"^^xsd:string ; a owl:Class ; rdfs:label "postinfectious encephalitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060004, obo:DOID_9588, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_10997 obo:IAO_0000115 "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H25.09"^^xsd:string, "SNOMEDCT_US_2021_03_01:52421005"^^xsd:string, "UMLS_CUI:C0271163"^^xsd:string ; oboInOwl:hasExactSynonym "Incipient cataract"@en, "Incipient senile cataract"@en, "Water clefts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10997"^^xsd:string ; a owl:Class ; rdfs:label "immature cataract"^^xsd:string ; rdfs:subClassOf obo:DOID_9669 . obo:DOID_10998 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:10998"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_110 obo:IAO_0000115 "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H27.9"^^xsd:string, "MESH:D007905"^^xsd:string, "NCI:C26812"^^xsd:string, "SNOMEDCT_US_2021_03_01:194613002"^^xsd:string, "UMLS_CUI:C0023308"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:110"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lens disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_1100 obo:IAO_0000115 "A female reproductive system disease that is located_in the ovary."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010049"^^xsd:string, "NCI:C26841"^^xsd:string, "SNOMEDCT_US_2021_03_01:5552004"^^xsd:string, "UMLS_CUI:C0029928"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1100"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ovarian disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2277, obo:DOID_229, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_11000 oboInOwl:hasExactSynonym "Essential iris atrophy (disorder)"@en, "Essential or progressive iris atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11000"^^xsd:string ; a owl:Class ; rdfs:label "obsolete progressive iris atrophy"^^xsd:string ; owl:deprecated true . obo:DOID_11001 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11001"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Iris and ciliary body degeneration"^^xsd:string ; owl:deprecated true . obo:DOID_11002 oboInOwl:hasExactSynonym "Iridoschisis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11002"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Iridoschisis"^^xsd:string ; owl:deprecated true . obo:DOID_11003 oboInOwl:hasExactSynonym "Miotic cyst of pupillary margin (disorder)"@en, "Miotic cysts of pupillary margin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11003"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pupillary margin miotic cyst"^^xsd:string ; owl:deprecated true . obo:DOID_11005 oboInOwl:hasExactSynonym "degeneration of pupillary margin"@en, "degeneration of pupillary margin (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11005"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Atrophy of sphincter of iris"^^xsd:string ; owl:deprecated true . obo:DOID_11014 oboInOwl:hasDbXref "ICD10CM:K62.4"^^xsd:string, "ICD9CM:569.2"^^xsd:string, "MESH:D000071056"^^xsd:string, "SNOMEDCT_US_2021_03_01:197216007"^^xsd:string, "UMLS_CUI:C0156183"^^xsd:string ; oboInOwl:hasExactSynonym "Anorectal stricture"@en, "Stenosis of rectum and anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11014"^^xsd:string ; a owl:Class ; rdfs:label "anorectal stricture"^^xsd:string ; rdfs:subClassOf obo:DOID_3128 . obo:DOID_11018 oboInOwl:hasExactSynonym "Post-surgical testicular hypofunction (disorder)"@en, "Postablative testicular hypofunction"@en, "Postablative testicular hypofunction (disorder)"@en, "Postablative testicular hypofunction NOS (disorder)"@en, "Postsurgical testicular hypofunction (disorder) [Ambiguous]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11018"^^xsd:string ; a owl:Class ; rdfs:label "obsolete postsurgical testicular hypofunction"^^xsd:string ; owl:deprecated true . obo:DOID_11019 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11019"^^xsd:string ; a owl:Class ; rdfs:label "obsolete testicular dysfunction"^^xsd:string ; owl:deprecated true . obo:DOID_11020 oboInOwl:hasExactSynonym "chronic glomerulonephritis with lesion of proliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_11027 oboInOwl:hasExactSynonym "chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11027"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_11028 oboInOwl:hasDbXref "ICD9CM:372.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:66139007"^^xsd:string, "UMLS_CUI:C0155161"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11028"^^xsd:string ; a owl:Class ; rdfs:label "pseudopterygium"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11029 oboInOwl:hasDbXref "ICD10CM:H11.15"^^xsd:string, "ICD9CM:372.51"^^xsd:string, "MESH:D059407"^^xsd:string, "NCI:C129468"^^xsd:string, "SNOMEDCT_US_2021_03_01:267735001"^^xsd:string, "UMLS_CUI:C0152255"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11029"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pinguecula"^^xsd:string ; rdfs:subClassOf obo:DOID_10139 . obo:DOID_1103 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1103"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant esophageal neoplasm by topographic region"^^xsd:string ; owl:deprecated true . obo:DOID_11030 oboInOwl:hasDbXref "ICD10CM:H18.20"^^xsd:string, "ICD9CM:371.2"^^xsd:string, "MESH:D015715"^^xsd:string, "NCI:C50508"^^xsd:string, "SNOMEDCT_US_2021_03_01:193811006"^^xsd:string, "UMLS_CUI:C0010037"^^xsd:string ; oboInOwl:hasExactSynonym "Corneal oedema"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11031 oboInOwl:hasDbXref "ICD10CM:H18.1"^^xsd:string, "ICD9CM:371.23"^^xsd:string, "NCI:C26970"^^xsd:string, "SNOMEDCT_US_2021_03_01:193815002"^^xsd:string, "UMLS_CUI:C0155111"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11031"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bullous keratopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11032 oboInOwl:hasDbXref "ICD10CM:H18.23"^^xsd:string, "ICD9CM:371.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:193814003"^^xsd:string, "UMLS_CUI:C0155110"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11032"^^xsd:string ; a owl:Class ; rdfs:label "secondary corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11033 oboInOwl:hasDbXref "ICD10CM:H18.22"^^xsd:string, "ICD9CM:371.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:193813009"^^xsd:string, "UMLS_CUI:C0155109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11033"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11034 oboInOwl:hasDbXref "ICD9CM:371.24"^^xsd:string, "SNOMEDCT_US_2021_03_01:49362009"^^xsd:string, "UMLS_CUI:C0474442"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11034"^^xsd:string ; a owl:Class ; rdfs:label "contact lens corneal edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11030 . obo:DOID_11036 oboInOwl:hasDbXref "ICD9CM:582.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:197614002"^^xsd:string, "UMLS_CUI:C0341694"^^xsd:string ; oboInOwl:hasExactSynonym "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11036"^^xsd:string ; a owl:Class ; rdfs:label "chronic rapidly progressive glomerulonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2921 . obo:DOID_11037 obo:IAO_0000115 "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F44.0"^^xsd:string, "ICD9CM:300.12"^^xsd:string, "MESH:D000647"^^xsd:string, "NCI:C94328"^^xsd:string, "SNOMEDCT_US_2021_03_01:192420000"^^xsd:string, "UMLS_CUI:C0236795"^^xsd:string ; oboInOwl:hasExactSynonym "psychogenic amnesia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11037"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dissociative amnesia"^^xsd:string ; rdfs:subClassOf obo:DOID_10935 . obo:DOID_11038 obo:IAO_0000115 "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization."^^xsd:string ; oboInOwl:hasDbXref "GARD:6260"^^xsd:string, "ICD9CM:300.6"^^xsd:string, "MESH:D003861"^^xsd:string, "NCI:C94331"^^xsd:string, "SNOMEDCT_US_2021_03_01:70764005"^^xsd:string, "UMLS_CUI:C0683416"^^xsd:string ; oboInOwl:hasExactSynonym "Neurotic derealization"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11038"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "depersonalization disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_10935 . obo:DOID_11042 obo:IAO_0000115 "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia."^^xsd:string ; oboInOwl:hasDbXref "GARD:8234"^^xsd:string, "ICD10CM:M05.0"^^xsd:string, "ICD9CM:714.1"^^xsd:string, "MESH:D005258"^^xsd:string, "NCI:C84712"^^xsd:string, "OMIM:134750"^^xsd:string, "SNOMEDCT_US_2021_03_01:57160007"^^xsd:string, "UMLS_CUI:C0015773"^^xsd:string ; oboInOwl:hasExactSynonym "Felty syndrome"@en, "Rheumatoid arthritis with splenoadenomegaly and leukopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11042"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Felty's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_11044 oboInOwl:hasDbXref "GARD:8661"^^xsd:string, "ICD10CM:Q79.3"^^xsd:string, "ICD9CM:756.73"^^xsd:string, "MESH:D020139"^^xsd:string, "NCI:C84725"^^xsd:string, "OMIM:230750"^^xsd:string, "SNOMEDCT_US_2021_03_01:72951007"^^xsd:string, "UMLS_CUI:C0265706"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11044"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "gastroschisis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015 . obo:DOID_11049 obo:IAO_0000115 "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery."^^xsd:string ; oboInOwl:hasDbXref "GARD:10494"^^xsd:string, "ICD10CM:P24.01"^^xsd:string, "MESH:D008471"^^xsd:string, "NCI:C87093"^^xsd:string, "SNOMEDCT_US_2021_03_01:85779008"^^xsd:string, "UMLS_CUI:C0025048"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal aspiration of meconium"@en, "meconium aspiration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11049"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "meconium aspiration syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_1105 oboInOwl:hasExactSynonym "metastatic tumor to the esophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1105"^^xsd:string ; a owl:Class ; rdfs:label "obsolete esophageal metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_11054 obo:IAO_0000115 "An urinary system cancer that results_in malignant growth located_in the urinary bladder."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:5428"^^xsd:string ; oboInOwl:hasDbXref "GARD:12210"^^xsd:string, "ICD10CM:C67"^^xsd:string, "ICD9CM:188"^^xsd:string, "KEGG:05219"^^xsd:string, "MESH:D001749"^^xsd:string, "NCI:C2901"^^xsd:string, "NCI:C9334"^^xsd:string, "OMIM:109800"^^xsd:string, "SNOMEDCT_US_2021_03_01:126885006"^^xsd:string, "SNOMEDCT_US_2021_03_01:363455001"^^xsd:string, "UMLS_CUI:C0005684"^^xsd:string, "UMLS_CUI:C0005695"^^xsd:string ; oboInOwl:hasExactSynonym "bladder cancer"@en, "tumor of the bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11054"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "urinary bladder cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_365, obo:DOID_3996 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] ) ] . obo:DOID_11055 obo:IAO_0000115 "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A28.0"^^xsd:string, "ICD9CM:027.2"^^xsd:string, "MESH:D010326"^^xsd:string, "SNOMEDCT_US_2021_03_01:276199008"^^xsd:string, "UMLS_CUI:C0030636"^^xsd:string ; oboInOwl:hasExactSynonym "Pasteurella infection"@en, "Pasteurella infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11055"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "pasteurellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_747 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000529 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_11056 oboInOwl:hasExactSynonym "hemorrhagic septicemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11056"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Pasteurella hemorrhagic septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_1106 oboInOwl:hasDbXref "NCI:C5687"^^xsd:string, "UMLS_CUI:C1333459"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of esophagus"@en, "Lymphoma of oesophagus"@en, "oesophagus lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1106"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5041, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_11060 obo:IAO_0000115 "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O44"^^xsd:string, "MESH:D010923"^^xsd:string, "NCI:C26858"^^xsd:string, "SNOMEDCT_US_2021_03_01:157059004"^^xsd:string, "UMLS_CUI:C0032046"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11060"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "placenta praevia"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_1107 obo:IAO_0000115 "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."^^xsd:string ; oboInOwl:hasDbXref "EFO:0002916"^^xsd:string, "NCI:C3513"^^xsd:string, "SNOMEDCT_US_2021_03_01:255079005"^^xsd:string, "UMLS_CUI:C0152018"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of esophagus"@en, "cancer of oesophagus"@en, "carcinoma OF ESOPHAGUS"@en, "carcinoma of esophagus"@en, "carcinoma of oesophagus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1107"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_5041, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] ) ] . obo:DOID_11074 oboInOwl:hasExactSynonym "Cyst of the Thyroid gland"@en, "Cyst of thyroid"@en, "Cyst of thyroid (disorder)"@en, "Thyroid cyst"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11074"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cyst of thyroid"^^xsd:string ; owl:deprecated true . obo:DOID_11076 obo:IAO_0000115 "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11076"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brucella suis brucellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11077, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29461 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000975 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11077 obo:IAO_0000115 "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050060"^^xsd:string ; oboInOwl:hasDbXref "GARD:5966"^^xsd:string, "ICD10CM:A23"^^xsd:string, "ICD9CM:023"^^xsd:string, "MESH:D002006"^^xsd:string, "NCI:C84602"^^xsd:string, "SNOMEDCT_US_2021_03_01:154296006"^^xsd:string, "UMLS_CUI:C0006309"^^xsd:string ; oboInOwl:hasExactSynonym "Maltese fever"@en, "undulant fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Bang's disease"@en, "Gibraltar fever"@en, "Malta fever"@en, "Mediterranean fever"@en ; oboInOwl:id "DOID:11077"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "brucellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_234 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000012 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ] . obo:DOID_11079 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B88.3"^^xsd:string, "ICD9CM:134.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:154423006"^^xsd:string, "UMLS_CUI:C0019575"^^xsd:string ; oboInOwl:hasExactSynonym "Hirudiniasis"@en, "Leech infestation"@en, "Leeches"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11079"^^xsd:string ; a owl:Class ; rdfs:label "leech infestation"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_1108 oboInOwl:hasDbXref "NCI:C5707"^^xsd:string, "UMLS_CUI:C1333460"^^xsd:string ; oboInOwl:hasExactSynonym "melanoma of esophagus"@en, "melanoma of oesophagus"@en, "oesophagus melanoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1108"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus melanoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5041 . obo:DOID_11080 obo:IAO_0000115 "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B87"^^xsd:string, "ICD9CM:134.0"^^xsd:string, "MESH:D009198"^^xsd:string, "NCI:C128400"^^xsd:string, "SNOMEDCT_US_2021_03_01:266225001"^^xsd:string, "UMLS_CUI:C0027030"^^xsd:string ; oboInOwl:hasExactSynonym "Infestation by fly larvae"@en, "Infestation by maggots"@en, "Maggot infestation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11080"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "myiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4110 . obo:DOID_11086 oboInOwl:hasDbXref "ICD10CM:H31.0"^^xsd:string, "ICD9CM:363.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:53854005"^^xsd:string, "UMLS_CUI:C0008512"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11086"^^xsd:string ; a owl:Class ; rdfs:label "chorioretinal scar"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_11088 obo:IAO_0000115 "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain."^^xsd:string ; oboInOwl:hasDbXref "GARD:5857"^^xsd:string, "ICD10CM:P84"^^xsd:string, "ICD9CM:768.9"^^xsd:string, "MESH:D001238"^^xsd:string, "SNOMEDCT_US_2021_03_01:413654009"^^xsd:string, "UMLS_CUI:C0004045"^^xsd:string ; oboInOwl:hasExactSynonym "Asphyxia - birth"@en, "Asphyxia, in liveborn infant"@en, "Birth asphyxia"@en, "postnatal asphyxia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11088"^^xsd:string ; a owl:Class ; rdfs:label "asphyxia neonatorum"^^xsd:string ; rdfs:subClassOf obo:DOID_1579 ; skos:exactMatch "MESH:D001238"^^xsd:string . obo:DOID_1109 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1109"^^xsd:string ; a owl:Class ; rdfs:label "obsolete extracutaneous melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_11091 oboInOwl:hasExactSynonym "Perinatal respiratory problems NOS"@en, "Perinatal respiratory problems NOS (disorder)"@en, "Unspecified respiratory condition of fetus and newborn"@en, "respiratory condition of fetus OR newborn (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete perinatal respiratory disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11092 obo:IAO_0000115 "A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness."^^xsd:string ; oboInOwl:hasExactSynonym "Enteric paratyphosis"@en, "Salmonella food poisoning"@en, "Salmonella food poisoning (disorder)"@en, "Salmonella gastroenteritis"@en, "Salmonella gastroenteritis (disorder)"@en, "Salmonella gastroenteritis [Ambiguous]"@en, "Salmonellosis"@en, "Salmonellosis (& [gastroenteritis] or [food poisoning])"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11092"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Salmonella gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_11093 obo:IAO_0000115 "A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050128"^^xsd:string ; oboInOwl:hasExactSynonym "Bacterial gastroenteritis (disorder)"@en, "Gastroenteritis - bact."@en, "bacterial diarrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11093"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bacterial gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_11096 oboInOwl:hasExactSynonym "Syphilis of kidney"@en, "Syphilis of kidney (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11096"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete renal syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_11097 obo:IAO_0000115 "A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever."^^xsd:string ; oboInOwl:hasExactSynonym "Syphilis of lung (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11097"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete pulmonary syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_11099 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11099"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete primary Rickettsiaceae infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1110 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gastrointestinal melanoma"^^xsd:string ; owl:deprecated true . obo:DOID_11100 obo:IAO_0000115 "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia."^^xsd:string ; oboInOwl:hasDbXref "GARD:7515"^^xsd:string, "ICD10CM:A78"^^xsd:string, "ICD9CM:083.0"^^xsd:string, "MESH:D011778"^^xsd:string, "NCI:C34970"^^xsd:string, "SNOMEDCT_US_2021_03_01:266205000"^^xsd:string, "UMLS_CUI:C0034362"^^xsd:string ; oboInOwl:hasExactSynonym "Infection due to Coxiella burnetii"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11100"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Q fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000009 obo:TRANS_0000012 obo:TRANS_0000024 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_11101 obo:IAO_0000115 "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A79.0"^^xsd:string, "ICD9CM:083.1"^^xsd:string, "MESH:D014205"^^xsd:string, "SNOMEDCT_US_2021_03_01:82214002"^^xsd:string, "UMLS_CUI:C0040830"^^xsd:string ; oboInOwl:hasExactSynonym "His-Werner disease"@en, "Quintan fever"@en, "Wolhynian fever"@en, "shin bone fever"@en, "tibialgic fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11101"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "trench fever"^^xsd:string ; rdfs:subClassOf obo:DOID_11102, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_803 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_121224 ] ; skos:exactMatch "MESH:D014205"^^xsd:string . obo:DOID_11102 obo:IAO_0000115 "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A44"^^xsd:string, "ICD9CM:088.0"^^xsd:string, "MESH:D001474"^^xsd:string, "NCI:C84586"^^xsd:string, "SNOMEDCT_US_2021_03_01:17116008"^^xsd:string, "UMLS_CUI:C0004771"^^xsd:string ; oboInOwl:hasExactSynonym "Bartonella infectious disease"@en, "Rochalimaea infection"@en, "bartonelliasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11102"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "bartonellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338 . obo:DOID_11103 obo:IAO_0000115 "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050037"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A79.1"^^xsd:string, "ICD9CM:083.2"^^xsd:string, "MESH:D000073605"^^xsd:string, "SNOMEDCT_US_2021_03_01:75096007"^^xsd:string, "UMLS_CUI:C0035597"^^xsd:string ; oboInOwl:hasExactSynonym "Rickettsia akari spotted fever"@en, "Vesicular rickettsiosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11103"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "rickettsialpox"^^xsd:string ; rdfs:subClassOf obo:DOID_11104, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_786 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11104 obo:IAO_0000115 "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite."^^xsd:string ; oboInOwl:hasDbXref "GARD:4998"^^xsd:string, "ICD10CM:A77.9"^^xsd:string, "ICD9CM:082.0"^^xsd:string, "MESH:D000073605"^^xsd:string, "SNOMEDCT_US_2021_03_01:186771002"^^xsd:string, "UMLS_CUI:C0038041"^^xsd:string ; oboInOwl:hasExactSynonym "Spotted fever group rickettsial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11104"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "spotted fever"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_780 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000020 obo:TRANS_0000024 ) ] ] . obo:DOID_11105 obo:IAO_0000115 "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement."^^xsd:string ; oboInOwl:hasDbXref "MESH:C562733"^^xsd:string, "OMIM:136880"^^xsd:string, "SNOMEDCT_US_2021_03_01:68222009"^^xsd:string, "UMLS_CUI:C0311338"^^xsd:string ; oboInOwl:hasExactSynonym "Pigmentary retinal dystrophy"@en, "retinitis punctata albescens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11105"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fundus albipunctatus"^^xsd:string ; rdfs:subClassOf obo:DOID_8501 . obo:DOID_11106 oboInOwl:hasExactSynonym "Glaucoma associated with anterior segment anomaly (disorder)"@en, "Glaucoma associated with other anterior segment anomalies"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11106"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with anterior segment anomaly"^^xsd:string ; owl:deprecated true . obo:DOID_11107 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with ocular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_1111 oboInOwl:hasExactSynonym "malignant neoplasm of cervical esophagus"@en, "malignant neoplasm of cervical oesophagus"@en, "malignant neoplasm of the cervical esophagus"@en, "malignant tumor of cervical part of esophagus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of cervical part of esophagus"^^xsd:string ; owl:deprecated true . obo:DOID_11110 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11110"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychosexual dysfunction with female orgasmic disease"^^xsd:string ; owl:deprecated true . obo:DOID_11111 oboInOwl:hasDbXref "ICD10CM:N13.30"^^xsd:string, "ICD9CM:591"^^xsd:string, "MESH:D006869"^^xsd:string, "NCI:C26796"^^xsd:string, "SNOMEDCT_US_2021_03_01:155866001"^^xsd:string, "UMLS_CUI:C0020295"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11111"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hydronephrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5200 . obo:DOID_11118 oboInOwl:hasExactSynonym "Syphilitic retrobulbar neuritis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11118"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic retrobulbar neuritis"^^xsd:string ; owl:deprecated true . obo:DOID_11119 obo:IAO_0000115 "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004895"^^xsd:string, "GARD:7783"^^xsd:string, "ICD10CM:F95.2"^^xsd:string, "ICD9CM:307.23"^^xsd:string, "MESH:D005879"^^xsd:string, "NCI:C35078"^^xsd:string, "OMIM:137580"^^xsd:string, "SNOMEDCT_US_2021_03_01:5158005"^^xsd:string, "UMLS_CUI:C0040517"^^xsd:string ; oboInOwl:hasExactSynonym "Guinon's disease"@en, "Psychogenic tics"@en, "Tourette syndrome"@en, "motor-verbal tic disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Gilles de la Tourette syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2769, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0100034 ] . obo:DOID_1112 oboInOwl:hasExactSynonym "malignant neoplasm of neck"@en, "malignant neoplasm of neck NOS (disorder)"@en, "malignant tumor of neck (disorder)"@en, "malignant tumor of the neck"@en, "neck cancer"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cancer of neck"@en ; oboInOwl:id "DOID:1112"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neck cancer"^^xsd:string ; owl:deprecated true . obo:DOID_11120 oboInOwl:hasDbXref "ICD10CM:F52.6"^^xsd:string, "ICD9CM:302.76"^^xsd:string, "SNOMEDCT_US_2021_03_01:41021005"^^xsd:string, "UMLS_CUI:C0154466"^^xsd:string ; oboInOwl:hasExactSynonym "Dyspareunia, psychogenic"@en, "Non-organic dyspareunia"@en, "Psychologic dyspareunia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11120"^^xsd:string ; a owl:Class ; rdfs:label "psychologic dyspareunia"^^xsd:string ; rdfs:subClassOf obo:DOID_10132 . obo:DOID_11121 oboInOwl:hasDbXref "ICD10CM:K04.0"^^xsd:string, "ICD9CM:522.0"^^xsd:string, "MESH:D011671"^^xsd:string, "NCI:C52595"^^xsd:string, "SNOMEDCT_US_2021_03_01:155638006"^^xsd:string, "UMLS_CUI:C0034103"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11121"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulpitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5330 . obo:DOID_11123 obo:IAO_0000115 "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:8204"^^xsd:string, "ICD10CM:D69.0"^^xsd:string, "ICD9CM:287.0"^^xsd:string, "MESH:D011695"^^xsd:string, "NCI:C34963"^^xsd:string, "SNOMEDCT_US_2021_03_01:191306005"^^xsd:string, "UMLS_CUI:C0034152"^^xsd:string ; oboInOwl:hasExactSynonym "Allergic purpura"@en, "Autoimmune purpura"@en, "Henoch-Sch?nlein purpura"@en, "Henoch-Sch@nlein purpura"@en, "Henoch-Scholein purpura"@en, "Henoch-Schonlein Purpura"@en, "Purpura, autoimmune"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11123"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Henoch-Schoenlein purpura"^^xsd:string ; rdfs:subClassOf obo:DOID_9809 . obo:DOID_11125 oboInOwl:hasDbXref "ICD10CM:D69.1"^^xsd:string, "ICD9CM:287.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:191311007"^^xsd:string, "UMLS_CUI:C0235604"^^xsd:string ; oboInOwl:hasExactSynonym "Qualitative platelet deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11125"^^xsd:string ; a owl:Class ; rdfs:label "qualitative platelet defect"^^xsd:string ; rdfs:subClassOf obo:DOID_2218 . obo:DOID_11126 oboInOwl:hasDbXref "ICD10CM:D69.5"^^xsd:string, "ICD9CM:287.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:74576004"^^xsd:string, "UMLS_CUI:C0154301"^^xsd:string ; oboInOwl:hasExactSynonym "secondary thrombocytopenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11126"^^xsd:string ; a owl:Class ; rdfs:label "acquired thrombocytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_1588 . obo:DOID_11129 oboInOwl:hasDbXref "ICD9CM:385.23"^^xsd:string, "UMLS_CUI:C0155487"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11129"^^xsd:string ; a owl:Class ; rdfs:label "dislocation of ear ossicle"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_1113 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant esophageal neoplasm by anatomic region"^^xsd:string ; owl:deprecated true . obo:DOID_11130 oboInOwl:hasDbXref "ICD10CM:I15"^^xsd:string, "ICD9CM:405"^^xsd:string, "NCI:C3657"^^xsd:string, "SNOMEDCT_US_2021_03_01:155300002"^^xsd:string, "UMLS_CUI:C0155616"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11130"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "secondary hypertension"^^xsd:string ; rdfs:subClassOf obo:DOID_10763 . obo:DOID_11132 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11132"^^xsd:string ; a owl:Class ; rdfs:label "prostatic hypertrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_47 . obo:DOID_11133 oboInOwl:hasDbXref "ICD10CM:N42.83"^^xsd:string, "ICD9CM:600.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:409658007"^^xsd:string, "UMLS_CUI:C1443972"^^xsd:string ; oboInOwl:hasExactSynonym "Cyst of prostate"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11133"^^xsd:string ; a owl:Class ; rdfs:label "prostatic cyst"^^xsd:string ; rdfs:subClassOf obo:DOID_11132 . obo:DOID_11134 oboInOwl:hasDbXref "ICD10CM:H04.16"^^xsd:string, "ICD9CM:375.16"^^xsd:string, "SNOMEDCT_US_2021_03_01:84777002"^^xsd:string, "UMLS_CUI:C0155231"^^xsd:string ; oboInOwl:hasExactSynonym "Dislocation of lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11134"^^xsd:string ; a owl:Class ; rdfs:label "prolapse of lacrimal gland"^^xsd:string ; rdfs:subClassOf obo:DOID_1400, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] . obo:DOID_1114 obo:IAO_0000115 "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C5341"^^xsd:string, "UMLS_CUI:C1333466"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "esophageal sarcoma"@en ; oboInOwl:id "DOID:1114"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagus sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_5041, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_11144 oboInOwl:hasExactSynonym "Anthrax septicemia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11144"^^xsd:string ; oboInOwl:inSubset doid:GOLD, doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete anthrax septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11145 oboInOwl:hasExactSynonym "primary cyst of pars plana"@en, "primary cyst of pars plana (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11145"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pars plana primary cyst"^^xsd:string ; owl:deprecated true . obo:DOID_11147 oboInOwl:hasAlternativeId "DOID:11146"^^xsd:string, "DOID:14083"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum vascular lesions of cord complicating labor and delivery"@en, "vascular lesions of cord complicating labor and delivery, delivered"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11147"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vascular lesions of cord complicating labor and delivery"^^xsd:string ; owl:deprecated true . obo:DOID_11148 obo:IAO_0000115 "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.82"^^xsd:string, "ICD9CM:365.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:29369005"^^xsd:string, "UMLS_CUI:C0154968"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11148"^^xsd:string ; a owl:Class ; rdfs:label "hypersecretion glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_11149 obo:IAO_0000115 "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H40.83"^^xsd:string, "ICD9CM:365.83"^^xsd:string, "UMLS_CUI:C1135189"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11149"^^xsd:string ; a owl:Class ; rdfs:label "aqueous misdirection"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_1115 obo:IAO_0000115 "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3936"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C49"^^xsd:string, "ICD9CM:171.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:93765001"^^xsd:string, "UMLS_CUI:C0153519"^^xsd:string ; oboInOwl:hasExactSynonym "connective and soft tissue neoplasm"@en, "tumor of soft tissue and skeleton"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1115"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050687 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] ) ] . obo:DOID_11150 oboInOwl:hasExactSynonym "Glaucoma with increased episcleral venous pressure"@en, "Glaucoma with increased episcleral venous pressure (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma due to raised episcleral venous pressure"^^xsd:string ; owl:deprecated true . obo:DOID_11151 oboInOwl:hasDbXref "MESH:D041761"^^xsd:string, "NCI:C34443"^^xsd:string, "SNOMEDCT_US_2021_03_01:235919008"^^xsd:string, "UMLS_CUI:C0947622"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11151"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cholecystolithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060262 . obo:DOID_11153 obo:IAO_0000115 "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.0"^^xsd:string, "ICD9CM:705.1"^^xsd:string, "MESH:D008883"^^xsd:string, "SNOMEDCT_US_2021_03_01:44279002"^^xsd:string, "UMLS_CUI:C0162423"^^xsd:string ; oboInOwl:hasExactSynonym "prickly heat"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11153"^^xsd:string ; a owl:Class ; rdfs:label "miliaria rubra"^^xsd:string ; rdfs:subClassOf obo:DOID_1382 . obo:DOID_11155 obo:IAO_0000115 "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.4"^^xsd:string, "MESH:D007007"^^xsd:string, "NCI:C34718"^^xsd:string, "SNOMEDCT_US_2021_03_01:201189007"^^xsd:string, "UMLS_CUI:C0020620"^^xsd:string ; oboInOwl:hasExactSynonym "Hypohidrosis"@en, "Oligohidrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11155"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypohidrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1383 ; skos:exactMatch "MESH:D007007"^^xsd:string . obo:DOID_11156 obo:IAO_0000115 "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:L74.4"^^xsd:string, "ICD9CM:705.0"^^xsd:string, "MESH:D007007"^^xsd:string, "NCI:C34385"^^xsd:string, "OMIM:206600"^^xsd:string, "SNOMEDCT_US_2021_03_01:201189007"^^xsd:string, "UMLS_CUI:C0003028"^^xsd:string ; oboInOwl:hasExactSynonym "Adiaphoresis"@en, "absence of sweating"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "anhidrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11155 . obo:DOID_11158 oboInOwl:hasExactSynonym "disorder of optic chiasm associated with non-pituitary neoplasm (disorder)"@en, "disorder of optic chiasm associated with other neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11158"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of optic chiasm associated with non-pituitary neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_1116 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11333"^^xsd:string, "DOID:11751"^^xsd:string ; oboInOwl:hasDbXref "KEGG:05133"^^xsd:string, "MESH:D001885"^^xsd:string, "SNOMEDCT_US_2021_03_01:26484003"^^xsd:string, "UMLS_CUI:C0006015"^^xsd:string ; oboInOwl:hasExactSynonym "WC - Whooping cough"@en, "bordetella infection"@en, "whooping cough"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1116"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "pertussis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_519 obo:NCBITaxon_520 ) ] ] . obo:DOID_11161 obo:IAO_0000115 "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P28.5"^^xsd:string, "ICD9CM:770.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:95619009"^^xsd:string, "UMLS_CUI:C0521648"^^xsd:string ; oboInOwl:hasExactSynonym "respiratory failure of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11161"^^xsd:string ; a owl:Class ; rdfs:label "neonatal respiratory failure"^^xsd:string ; rdfs:subClassOf obo:DOID_11162 . obo:DOID_11162 obo:IAO_0000115 "A lung disease characterized by inadequate gas exchange by the respiratory system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11391"^^xsd:string, "DOID:11392"^^xsd:string, "DOID:11393"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J96.0"^^xsd:string, "ICD9CM:518.81"^^xsd:string, "NCI:C27043"^^xsd:string, "SNOMEDCT_US_2021_03_01:65710008"^^xsd:string, "UMLS_CUI:C0264490"^^xsd:string ; oboInOwl:hasExactSynonym "acute and chronic respiratory failure"@en, "acute respiratory Failure"@en, "acute-on-chronic respiratory failure"@en, "chronic respiratory failure"@en, "respiratory insufficiency/failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11162"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "respiratory failure"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_11163 oboInOwl:hasExactSynonym "primary apnea of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11163"^^xsd:string ; a owl:Class ; rdfs:label "obsolete apnea of prematurity"^^xsd:string ; owl:deprecated true . obo:DOID_11164 oboInOwl:hasDbXref "ICD10CM:H18.42"^^xsd:string, "ICD9CM:371.43"^^xsd:string, "MESH:C562399"^^xsd:string, "NCI:C118765"^^xsd:string, "OMIM:217500"^^xsd:string, "SNOMEDCT_US_2021_03_01:35055000"^^xsd:string, "UMLS_CUI:C0155120"^^xsd:string ; oboInOwl:hasExactSynonym "Band-shaped keratopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11164"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "band keratopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11165 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B07.8"^^xsd:string, "ICD9CM:078.1"^^xsd:string, "NCI:C27087"^^xsd:string, "SNOMEDCT_US_2021_03_01:57019003"^^xsd:string, "UMLS_CUI:C0043037"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11165"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "common wart"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_173087 ] . obo:DOID_11166 obo:IAO_0000115 "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact."^^xsd:string ; oboInOwl:hasDbXref "MESH:D030361"^^xsd:string ; oboInOwl:hasExactSynonym "HPV"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11166"^^xsd:string ; a owl:Class ; rdfs:label "Human papillomavirus infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_11167 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts."^^xsd:string ; oboInOwl:hasExactSynonym "Condyloma of the Cervix Uteri"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11167"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete uterine cervix condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11168 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:7877"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A63.0"^^xsd:string, "ICD9CM:078.11"^^xsd:string, "MESH:D003218"^^xsd:string, "NCI:C2960"^^xsd:string, "NCI:C4820"^^xsd:string, "SNOMEDCT_US_2021_03_01:240542006"^^xsd:string, "SNOMEDCT_US_2021_03_01:302812006"^^xsd:string, "UMLS_CUI:C0009663"^^xsd:string, "UMLS_CUI:C0554632"^^xsd:string ; oboInOwl:hasExactSynonym "Anogenital Human papilloma Virus Infectious Disease"@en, "Anogenital warts"@en, "Genital warts"@en, "genital wart virus infectious disease"@en, "venereal wart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Condyloma acuminatum"@en ; oboInOwl:id "DOID:11168"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "anogenital venereal wart"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_333754 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000002 obo:UBERON_0000167 obo:UBERON_0000341 obo:UBERON_0000989 obo:UBERON_0000995 obo:UBERON_0000996 obo:UBERON_0001245 obo:UBERON_0001300 ) ] ] . obo:DOID_11169 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts."^^xsd:string ; oboInOwl:hasExactSynonym "vaginal Condyloma Acuminatum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11169"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete vaginal condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11170 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts."^^xsd:string ; oboInOwl:hasExactSynonym "Condyloma acuminata of vulva (disorder)"@en, "Vulvar Condyloma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11170"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete vulvar condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11171 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts."^^xsd:string ; oboInOwl:hasExactSynonym "urethral Condylomata"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11171"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete urethral condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11172 obo:IAO_0000115 "An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts."^^xsd:string ; oboInOwl:hasExactSynonym "Condylomata of anus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11172"^^xsd:string ; oboInOwl:inSubset doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete anal condylomata acuminata"^^xsd:string ; owl:deprecated true . obo:DOID_11175 oboInOwl:hasDbXref "ICD10CM:H05.4"^^xsd:string, "ICD9CM:376.5"^^xsd:string, "MESH:D015841"^^xsd:string, "NCI:C79552"^^xsd:string, "SNOMEDCT_US_2021_03_01:267746003"^^xsd:string, "UMLS_CUI:C0014306"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11175"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "enophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_11177 oboInOwl:hasDbXref "ICD9CM:367.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:193630009"^^xsd:string, "UMLS_CUI:C0152197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11177"^^xsd:string ; a owl:Class ; rdfs:label "total internal ophthalmoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_10034, obo:DOID_238, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001771 ] . obo:DOID_11179 obo:IAO_0000115 "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media."^^xsd:string ; oboInOwl:hasExactSynonym "Glue ear"@en, "Mucoid otitis media"@en, "Mucoid otitis media NOS (disorder)"@en, "Otitis media with effusion"@en, "Otitis media with effusion - mucoid"@en, "Otitis media, transudative"@en, "Secretory Otitis Media"@en, "Transudative otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11179"^^xsd:string ; a owl:Class ; rdfs:label "obsolete otitis media with effusion"^^xsd:string ; owl:deprecated true . obo:DOID_11180 obo:IAO_0000115 "A otitis media which involves transudation of fluid in the middle ear without pus formation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H65"^^xsd:string, "ICD9CM:381.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:275481002"^^xsd:string, "UMLS_CUI:C0271446"^^xsd:string ; oboInOwl:hasExactSynonym "Nonsuppurative otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11180"^^xsd:string ; a owl:Class ; rdfs:label "non-suppurative otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_10754 . obo:DOID_11181 obo:IAO_0000115 "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H65.2"^^xsd:string, "ICD9CM:381.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:81564005"^^xsd:string, "UMLS_CUI:C0155421"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11181"^^xsd:string ; a owl:Class ; rdfs:label "serous glue ear"^^xsd:string ; rdfs:subClassOf obo:DOID_11180 . obo:DOID_11182 obo:IAO_0000115 "A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11182"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic otitis media with effusion"^^xsd:string ; owl:deprecated true . obo:DOID_11183 oboInOwl:hasExactSynonym "Hemophilus influenzae septicemia (disorder)"@en, "Septicemia due to H. influenzae"@en, "Septicemia due to hemophilus influenzae [H. influenzae]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11183"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Haemophilus influenzae septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11184 oboInOwl:hasDbXref "ICD10CM:H10.02"^^xsd:string, "ICD9CM:372.03"^^xsd:string, "UMLS_CUI:C0029668"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11184"^^xsd:string ; a owl:Class ; rdfs:label "acute conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6195 . obo:DOID_11186 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B48.2"^^xsd:string, "ICD9CM:117.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:80936003"^^xsd:string, "UMLS_CUI:C0153285"^^xsd:string ; oboInOwl:hasExactSynonym "Petriellidosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11186"^^xsd:string ; a owl:Class ; rdfs:label "allescheriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5597 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_11189 oboInOwl:hasDbXref "ICD10CM:K04.2"^^xsd:string, "ICD9CM:522.2"^^xsd:string, "NCI:C34962"^^xsd:string, "SNOMEDCT_US_2021_03_01:22361007"^^xsd:string, "UMLS_CUI:C0034100"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11189"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulp degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_5330 . obo:DOID_1119 oboInOwl:hasAlternativeId "DOID:10214"^^xsd:string, "DOID:1118"^^xsd:string ; oboInOwl:hasExactSynonym "Excessive fetal growth affecting management of mother, delivered"@en, "Excessive fetal growth, affecting management of mother, antepartum"@en, "Excessive fetal growth, affecting management of mother, delivered"@en, "antepartum excessive fetal growth affecting management of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1119"^^xsd:string ; a owl:Class ; rdfs:label "obsolete large for dates affecting management of mother"^^xsd:string ; owl:deprecated true . obo:DOID_11190 obo:IAO_0000115 "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.22"^^xsd:string, "ICD9CM:372.04"^^xsd:string, "NCI:C35196"^^xsd:string, "SNOMEDCT_US_2021_03_01:267643002"^^xsd:string, "UMLS_CUI:C0155144"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11190"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudomembranous conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11184 . obo:DOID_11193 obo:IAO_0000115 "A synostosis that results_in the fusion of two or more digits."^^xsd:string ; oboInOwl:hasDbXref "GARD:13181"^^xsd:string, "ICD10CM:Q70"^^xsd:string, "ICD9CM:755.1"^^xsd:string, "MESH:D013576"^^xsd:string, "NCI:C87125"^^xsd:string, "ORDO:295012"^^xsd:string, "ORDO:90025"^^xsd:string, "ORDO:93403"^^xsd:string, "SNOMEDCT_US_2021_03_01:156989004"^^xsd:string, "UMLS_CUI:C0039075"^^xsd:string ; oboInOwl:hasExactSynonym "chromosome 2q35 duplication syndrome"@en, "symphalangism"@en, "symphalangy"@en, "webbing of digits"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11193"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "syndactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0060429, obo:DOID_11971, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_1000035 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011297 ] ; skos:exactMatch "MESH:D013576"^^xsd:string . obo:DOID_11195 obo:IAO_0000115 "An upper respiratory tract disease which involves inflammation of both larynx and pharynx."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J06.0"^^xsd:string, "ICD9CM:465.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:55355000"^^xsd:string, "UMLS_CUI:C0155817"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11195"^^xsd:string ; a owl:Class ; rdfs:label "acute laryngopharyngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_974 . obo:DOID_11197 obo:IAO_0000115 "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.23"^^xsd:string, "ICD9CM:372.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:9824006"^^xsd:string, "UMLS_CUI:C0155142"^^xsd:string ; oboInOwl:hasExactSynonym "serous conjunctivitis, except viral"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11197"^^xsd:string ; a owl:Class ; rdfs:label "serous conjunctivitis except viral"^^xsd:string ; rdfs:subClassOf obo:DOID_11184, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11198 obo:IAO_0000115 "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production."^^xsd:string ; oboInOwl:hasDbXref "GARD:10299"^^xsd:string, "ICD10CM:D82.1"^^xsd:string, "ICD9CM:279.11"^^xsd:string, "MESH:D004062"^^xsd:string, "NCI:C2989"^^xsd:string, "OMIM:188400"^^xsd:string, "SNOMEDCT_US_2021_03_01:77128003"^^xsd:string, "UMLS_CUI:C0012236"^^xsd:string ; oboInOwl:hasExactSynonym "22q11.2 deletion syndrome"@en, "DiGeorge sequence"@en, "DiGeorge's syndrome"@en, "Pharyngeal pouch syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11198"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "DiGeorge syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_11199 obo:IAO_0000115 "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood."^^xsd:string ; oboInOwl:hasDbXref "GARD:6733"^^xsd:string, "ICD10CM:E20"^^xsd:string, "ICD9CM:252.1"^^xsd:string, "MESH:D007011"^^xsd:string, "NCI:C78350"^^xsd:string, "OMIM:146200"^^xsd:string, "OMIM:307700"^^xsd:string, "ORDO:2238"^^xsd:string, "SNOMEDCT_US_2021_03_01:154697005"^^xsd:string, "UMLS_CUI:C0020626"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11199"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hypoparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_11201 ; skos:exactMatch "MESH:D007011"^^xsd:string . obo:DOID_112 oboInOwl:hasAlternativeId "DOID:111"^^xsd:string, "DOID:13536"^^xsd:string, "DOID:14031"^^xsd:string ; oboInOwl:hasDbXref "GARD:6384"^^xsd:string, "ICD10CM:I85.01"^^xsd:string, "ICD9CM:456.0"^^xsd:string, "ICD9CM:456.2"^^xsd:string, "ICD9CM:456.20"^^xsd:string, "NCI:C78282"^^xsd:string, "SNOMEDCT_US_2021_03_01:195475003"^^xsd:string, "SNOMEDCT_US_2021_03_01:195643006"^^xsd:string, "SNOMEDCT_US_2021_03_01:236067006"^^xsd:string, "UMLS_CUI:C0155789"^^xsd:string, "UMLS_CUI:C0155791"^^xsd:string, "UMLS_CUI:C0155792"^^xsd:string ; oboInOwl:hasExactSynonym "Bleeding esophageal varices"@en, "Bleeding oesophageal varices"@en, "esophageal varices"@en, "esophageal varices in disease classified elsewhere, with bleeding"@en, "esophageal varices with bleeding"@en, "esophageal varices with bleeding in disease EC"@en, "esophageal varices without bleeding"@en, "esophageal varices without mention of bleeding"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:112"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophageal varix"^^xsd:string ; rdfs:subClassOf obo:DOID_6050, obo:DOID_866 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_866 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001043 ] ) ] . obo:DOID_11200 obo:IAO_0000115 "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:613"^^xsd:string ; oboInOwl:hasDbXref "NCI:C27145"^^xsd:string, "NCI:C27872"^^xsd:string, "SNOMEDCT_US_2021_03_01:402792003"^^xsd:string, "UMLS_CUI:C1274233"^^xsd:string, "UMLS_CUI:C1333147"^^xsd:string ; oboInOwl:hasExactSynonym "T cell immunodeficiency"@en, "T lymphocyte deficiency"@en, "T lymphocyte immunodeficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11200"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "T cell deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_612 . obo:DOID_11201 obo:IAO_0000115 "An endocrine system disease that is located_in the parathyroid gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E21.5"^^xsd:string, "ICD9CM:252.9"^^xsd:string, "MESH:D010279"^^xsd:string, "NCI:C26844"^^xsd:string, "SNOMEDCT_US_2021_03_01:73132005"^^xsd:string, "UMLS_CUI:C0030517"^^xsd:string ; oboInOwl:hasExactSynonym "disease of parathyroid glands"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "parathyroid gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_28 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001132 ] ) ] . obo:DOID_11202 obo:IAO_0000115 "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14790"^^xsd:string ; oboInOwl:hasDbXref "GARD:8612"^^xsd:string, "ICD10CM:E21.0"^^xsd:string, "ICD9CM:252.01"^^xsd:string, "MESH:D049950"^^xsd:string, "NCI:C48280"^^xsd:string, "OMIM:600166"^^xsd:string, "ORDO:99878"^^xsd:string, "SNOMEDCT_US_2021_03_01:190452007"^^xsd:string, "SNOMEDCT_US_2021_03_01:54920000"^^xsd:string, "UMLS_CUI:C0221002"^^xsd:string, "UMLS_CUI:C0271846"^^xsd:string ; oboInOwl:hasExactSynonym "familial primary hyperparathyroidism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11202"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "primary hyperparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_13543 . obo:DOID_11203 oboInOwl:hasDbXref "ICD10CM:H10.1"^^xsd:string, "ICD9CM:372.05"^^xsd:string, "NCI:C34353"^^xsd:string, "SNOMEDCT_US_2021_03_01:193863004"^^xsd:string, "UMLS_CUI:C0001309"^^xsd:string ; oboInOwl:hasExactSynonym "Angelucci syndrome"@en, "acute atopic conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11203"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Angelucci's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11204 . obo:DOID_11204 obo:IAO_0000115 "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003233"^^xsd:string, "NCI:C34506"^^xsd:string, "SNOMEDCT_US_2021_03_01:231854006"^^xsd:string, "UMLS_CUI:C0009766"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11204"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "allergic conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_2475, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_11206 obo:IAO_0000115 "A substance abuse that involves the recurring use of opioid drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F11.1"^^xsd:string, "ICD9CM:305.5"^^xsd:string, "MESH:D009293"^^xsd:string, "SNOMEDCT_US_2021_03_01:5602001"^^xsd:string, "UMLS_CUI:C0029095"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11206"^^xsd:string ; a owl:Class ; rdfs:label "opioid abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_11211 obo:IAO_0000115 "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:743.21"^^xsd:string, "OMIM:231300"^^xsd:string, "SNOMEDCT_US_2021_03_01:204116009"^^xsd:string, "UMLS_CUI:C0311251"^^xsd:string ; oboInOwl:hasExactSynonym "simple buphthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11211"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "buphthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_11212 . obo:DOID_11212 obo:IAO_0000115 "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q15.0"^^xsd:string, "MESH:D006871"^^xsd:string, "NCI:C50648"^^xsd:string, "SNOMEDCT_US_2021_03_01:392368005"^^xsd:string, "UMLS_CUI:C0020302"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11212"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hydrophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_0050593 . obo:DOID_11213 obo:IAO_0000115 "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material basis in Hemophilius Aegypticus."^^xsd:string ; oboInOwl:hasDbXref "NCI:C35704"^^xsd:string, "SNOMEDCT_US_2021_03_01:240066005"^^xsd:string, "UMLS_CUI:C1313983"^^xsd:string ; oboInOwl:hasExactSynonym "Contagious opthalmia"@en, "Pink eye"@en, "Pinkeye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11213"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute contagious conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11184 . obo:DOID_11215 oboInOwl:hasAlternativeId "DOID:12565"^^xsd:string, "DOID:14540"^^xsd:string ; oboInOwl:hasExactSynonym "Premature rupture of membranes - delivered (disorder)"@en, "antepartum premature rupture of membranes"@en, "delivered premature rupture of membranes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete premature rupture of the fetal membranes"^^xsd:string ; owl:deprecated true . obo:DOID_11217 oboInOwl:hasDbXref "ICD10CM:H73.1"^^xsd:string, "ICD9CM:384.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:89723004"^^xsd:string, "UMLS_CUI:C0395849"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11217"^^xsd:string ; a owl:Class ; rdfs:label "chronic tympanitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_11219 obo:IAO_0000115 "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H10.01"^^xsd:string, "ICD9CM:372.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:41308008"^^xsd:string, "UMLS_CUI:C0155143"^^xsd:string ; oboInOwl:hasExactSynonym "acute follicular conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11219"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival folliculosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11184 . obo:DOID_1122 oboInOwl:hasExactSynonym "Spinal enthesopathy (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1122"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spinal enthesopathy"^^xsd:string ; owl:deprecated true . obo:DOID_11223 oboInOwl:hasAlternativeId "DOID:11224"^^xsd:string ; oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:280991008"^^xsd:string, "UMLS_CUI:C0267502"^^xsd:string ; oboInOwl:hasExactSynonym "Diverticulosis of small intestine with hemorrhage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11223"^^xsd:string ; a owl:Class ; rdfs:label "small intestine diverticulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_7475 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_7475 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002108 ] ) ] . obo:DOID_11227 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:077.4"^^xsd:string, "MESH:D003232"^^xsd:string, "NCI:C34505"^^xsd:string, "SNOMEDCT_US_2021_03_01:186677009"^^xsd:string, "UMLS_CUI:C0009765"^^xsd:string ; oboInOwl:hasExactSynonym "Apollo disease"@en, "Epidemic hemorrhagic conjunctivitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "viral conjunctivitis"@en ; oboInOwl:id "DOID:11227"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute hemorrhagic conjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4251, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_12089 obo:NCBITaxon_12090 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000011 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000210 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001811 ] . obo:DOID_1123 oboInOwl:hasDbXref "GARD:4971"^^xsd:string, "MESH:D025242"^^xsd:string, "SNOMEDCT_US_2021_03_01:8847002"^^xsd:string, "UMLS_CUI:C0949691"^^xsd:string ; oboInOwl:hasExactSynonym "spondarthropathy"@en, "spondylarthrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1123"^^xsd:string ; a owl:Class ; rdfs:label "spondyloarthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_11230 oboInOwl:hasDbXref "ICD10CM:H05.0"^^xsd:string, "ICD9CM:376.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:20551005"^^xsd:string, "UMLS_CUI:C0155256"^^xsd:string ; oboInOwl:hasExactSynonym "acute inflammation of orbit"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11230"^^xsd:string ; a owl:Class ; rdfs:label "acute orbital inflammation"^^xsd:string ; rdfs:subClassOf obo:DOID_930, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11231 obo:IAO_0000115 "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.03"^^xsd:string, "ICD9CM:376.02"^^xsd:string, "SNOMEDCT_US_2021_03_01:65974003"^^xsd:string, "UMLS_CUI:C0155257"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11231"^^xsd:string ; a owl:Class ; rdfs:label "orbital periostitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11232 obo:IAO_0000115 "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.02"^^xsd:string, "ICD9CM:376.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:65875003"^^xsd:string, "UMLS_CUI:C0155258"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11232"^^xsd:string ; a owl:Class ; rdfs:label "orbital osteomyelitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230 . obo:DOID_11233 obo:IAO_0000115 "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:376.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:8976003"^^xsd:string, "UMLS_CUI:C0155259"^^xsd:string ; oboInOwl:hasExactSynonym "Tenonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11233"^^xsd:string ; a owl:Class ; rdfs:label "orbital tenonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_11234 obo:IAO_0000115 "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H05.01"^^xsd:string, "ICD9CM:376.01"^^xsd:string, "MESH:D054517"^^xsd:string, "NCI:C99000"^^xsd:string, "SNOMEDCT_US_2021_03_01:194005002"^^xsd:string, "UMLS_CUI:C0149507"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11234"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "orbital cellulitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11230, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000369 ] . obo:DOID_11235 obo:IAO_0000115 "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H74.1"^^xsd:string, "ICD9CM:385.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:7699004"^^xsd:string, "UMLS_CUI:C0155478"^^xsd:string ; oboInOwl:hasExactSynonym "chronic adhesive otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11235"^^xsd:string ; a owl:Class ; rdfs:label "adhesive otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_11239 obo:IAO_0000115 "A intestinal cancer that is located_in the appendix."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C18.1"^^xsd:string, "ICD9CM:153.5"^^xsd:string, "MESH:D001063"^^xsd:string, "NCI:C9333"^^xsd:string, "SNOMEDCT_US_2021_03_01:93679002"^^xsd:string, "UMLS_CUI:C0496779"^^xsd:string ; oboInOwl:hasExactSynonym "cancer of the appendix"@en, "malignant neoplasm of appendix vermiformis"@en, "malignant tumor of appendix"@en, "malignant tumor of the appendix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11239"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "appendix cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_10155, obo:DOID_60000 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001154 ] ) ] . obo:DOID_11240 oboInOwl:hasDbXref "MESH:D001063"^^xsd:string, "NCI:C4434"^^xsd:string, "SNOMEDCT_US_2021_03_01:126846004"^^xsd:string, "UMLS_CUI:C0003614"^^xsd:string ; oboInOwl:hasExactSynonym "appendix neoplasm"@en, "neoplasm of appendix"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11240"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendiceal neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_4610 . obo:DOID_11241 oboInOwl:hasDbXref "NCI:C5513"^^xsd:string, "UMLS_CUI:C1332328"^^xsd:string ; oboInOwl:hasExactSynonym "Appendiceal Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11241"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "appendix lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_11239, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_11242 oboInOwl:hasDbXref "ICD10CM:P61.1"^^xsd:string, "ICD9CM:776.4"^^xsd:string, "NCI:C27069"^^xsd:string, "SNOMEDCT_US_2021_03_01:32984002"^^xsd:string, "UMLS_CUI:C0272153"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal polycythemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11242"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "plethora of newborn"^^xsd:string ; rdfs:subClassOf obo:DOID_8432 . obo:DOID_11243 oboInOwl:hasDbXref "ICD10CM:P61.2"^^xsd:string, "ICD9CM:776.6"^^xsd:string, "NCI:C97167"^^xsd:string, "SNOMEDCT_US_2021_03_01:47100003"^^xsd:string, "UMLS_CUI:C0158996"^^xsd:string ; oboInOwl:hasExactSynonym "Anemia of prematurity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11243"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anemia of prematurity"^^xsd:string ; rdfs:subClassOf obo:DOID_11244 . obo:DOID_11244 oboInOwl:hasDbXref "MESH:D000751"^^xsd:string, "SNOMEDCT_US_2021_03_01:111468003"^^xsd:string, "UMLS_CUI:C0002891"^^xsd:string ; oboInOwl:hasExactSynonym "anaemia neonatal"@en, "anemia neonatal"@en, "neonatal anaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11244"^^xsd:string ; a owl:Class ; rdfs:label "neonatal anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_11245 oboInOwl:hasDbXref "ICD10CM:P61.5"^^xsd:string, "ICD9CM:776.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:55444004"^^xsd:string, "UMLS_CUI:C0158997"^^xsd:string ; oboInOwl:hasExactSynonym "Transient neonatal neutropenia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11245"^^xsd:string ; a owl:Class ; rdfs:label "transient neonatal neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_1227 . obo:DOID_11246 oboInOwl:hasDbXref "ICD10CM:P60"^^xsd:string, "ICD9CM:776.2"^^xsd:string, "NCI:C111856"^^xsd:string, "SNOMEDCT_US_2021_03_01:34417008"^^xsd:string, "UMLS_CUI:C0158992"^^xsd:string ; oboInOwl:hasExactSynonym "Disseminated intravascular coagulation in newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11246"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "DIC in newborn"^^xsd:string ; rdfs:subClassOf obo:DOID_11247 . obo:DOID_11247 oboInOwl:hasDbXref "ICD10CM:D65"^^xsd:string, "ICD9CM:286.6"^^xsd:string, "MESH:D004211"^^xsd:string, "NCI:C2992"^^xsd:string, "SNOMEDCT_US_2021_03_01:67406007"^^xsd:string, "UMLS_CUI:C0012739"^^xsd:string ; oboInOwl:hasExactSynonym "DIC"@en, "Defibrination syndrome"@en, "Diffuse or disseminated intravascular coagulation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11247"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "disseminated intravascular coagulation"^^xsd:string ; rdfs:subClassOf obo:DOID_2452 . obo:DOID_11248 oboInOwl:hasExactSynonym "Hemorrhagic diathesis of newborn"@en, "Hemorrhagic disease of newborn"@en, "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)"@en, "hemorrhagic disease of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11248"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hemorrhagic disease of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11249 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmillk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E56.1"^^xsd:string, "ICD9CM:269.0"^^xsd:string, "MESH:D014813"^^xsd:string, "NCI:C99108"^^xsd:string, "SNOMEDCT_US_2021_03_01:52675005"^^xsd:string, "UMLS_CUI:C0042880"^^xsd:string ; oboInOwl:hasExactSynonym "deficiency of vitamin K"@en, "vitamin K deficiency"@en, "vitamin K deficiency hemorrhagic disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11249"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vitamin K deficiency bleeding"^^xsd:string ; rdfs:subClassOf obo:DOID_5113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_11252 oboInOwl:hasDbXref "MESH:C562385"^^xsd:string, "OMIM:206200"^^xsd:string, "SNOMEDCT_US_2021_03_01:722005000"^^xsd:string, "UMLS_CUI:C0085576"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11252"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "microcytic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_11254 obo:IAO_0000115 "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A75.1"^^xsd:string, "ICD9CM:081.1"^^xsd:string, "MESH:D014438"^^xsd:string, "SNOMEDCT_US_2021_03_01:47761007"^^xsd:string, "UMLS_CUI:C0006181"^^xsd:string ; oboInOwl:hasExactSynonym "Brill Zinsser disease"@en, "Brill's disease"@en, "Recrudescent typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Latent typhus"@en, "Sporadic typhus"@en ; oboInOwl:id "DOID:11254"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Brill-Zinsser disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050480 . obo:DOID_11256 obo:IAO_0000115 "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11255"^^xsd:string, "DOID:12353"^^xsd:string ; oboInOwl:hasDbXref "GARD:7833"^^xsd:string, "ICD10CM:A75.0"^^xsd:string, "ICD10CM:A75.2"^^xsd:string, "ICD10CM:A75.9"^^xsd:string, "ICD9CM:080"^^xsd:string, "ICD9CM:081.0"^^xsd:string, "ICD9CM:081.9"^^xsd:string, "MESH:D014437"^^xsd:string, "MESH:D014438"^^xsd:string, "NCI:C84688"^^xsd:string, "NCI:C84689"^^xsd:string, "SNOMEDCT_US_2021_03_01:154375001"^^xsd:string, "SNOMEDCT_US_2021_03_01:25668000"^^xsd:string, "SNOMEDCT_US_2021_03_01:39111003"^^xsd:string, "UMLS_CUI:C0041471"^^xsd:string, "UMLS_CUI:C0041472"^^xsd:string, "UMLS_CUI:C0041473"^^xsd:string ; oboInOwl:hasExactSynonym "Endemic Typhus fever"@en, "Exanthematic Typhus fever"@en, "Flea typhus"@en, "Louse-borne [epidemic] typhus"@en, "Moscow typhus"@en, "Murine [endemic] typhus"@en, "Typhus fever"@en, "endemic flea-borne typhus"@en, "epidemic louse-borne typhus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Classical typhus"@en, "Epidemic (louse-borne) typhus"@en, "Epidemic louse-borne typhus fever due to Rickettsia prowazekii"@en, "European typhus"@en, "Exanthematous typhus"@en, "Famine fever"@en, "Flea-borne rickettsiosis"@en, "Flea-borne typhus"@en, "Hospital fever"@en, "Jail fever"@en, "Louse-borne rickettsiosis"@en, "Louse-borne typhus"@en, "Mexican typhus"@en, "Murine typhus"@en, "Petechial fever"@en, "Prison fever"@en, "Rat flea typhus"@en, "Ship fever"@en, "Shop typhus"@en, "Typhus exanthematique"@en, "Urban typhus"@en ; oboInOwl:id "DOID:11256"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "typhus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_780 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000020 ] . obo:DOID_11257 obo:IAO_0000115 "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F40.1"^^xsd:string, "ICD9CM:300.23"^^xsd:string, "MESH:D000072861"^^xsd:string, "NCI:C34927"^^xsd:string, "SNOMEDCT_US_2021_03_01:192395002"^^xsd:string, "UMLS_CUI:C0031572"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11257"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "social phobia"^^xsd:string ; rdfs:subClassOf obo:DOID_591 . obo:DOID_11258 obo:IAO_0000115 "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A28.1"^^xsd:string, "ICD9CM:078.3"^^xsd:string, "MESH:D002372"^^xsd:string, "NCI:C84620"^^xsd:string, "SNOMEDCT_US_2021_03_01:123319006"^^xsd:string, "UMLS_CUI:C0007361"^^xsd:string ; oboInOwl:hasExactSynonym "Debre's Syndrome"@en, "Debre-Mollaret Syndrome"@en, "Foshay-Mollaret Cat Scratch Fever"@en, "benign lymphoreticulosis"@en, "cat scratch fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11258"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "cat-scratch disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11102, obo:DOID_9942, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_38323 obo:NCBITaxon_56426 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000029 ] . obo:DOID_11259 obo:IAO_0000115 "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions."^^xsd:string ; oboInOwl:hasExactSynonym "Cytomagalovirus infection"@en, "Cytomegaloviral disease"@en, "Cytomegaloviral disease, unspecified"@en, "Cytomegaloviral disease, unspecified (disorder)"@en, "Cytomegalovirus infection (disorder)"@en, "Salivary gland virus disease"@en, "cytomegalovirus infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11259"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cytomegalovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11260 obo:IAO_0000115 "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7516"^^xsd:string, "ICD10CM:A82"^^xsd:string, "ICD9CM:071"^^xsd:string, "MESH:D011818"^^xsd:string, "NCI:C28182"^^xsd:string, "SNOMEDCT_US_2021_03_01:14168008"^^xsd:string, "UMLS_CUI:C0034494"^^xsd:string ; oboInOwl:hasExactSynonym "Lyssa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11260"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "rabies"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_11261 obo:IAO_0000115 "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness."^^xsd:string ; oboInOwl:hasExactSynonym "Epizootic stomatitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11261"^^xsd:string ; a owl:Class ; rdfs:label "obsolete foot and mouth disease"^^xsd:string ; owl:deprecated true . obo:DOID_11262 obo:IAO_0000115 "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A70"^^xsd:string, "ICD9CM:073"^^xsd:string, "MESH:D009956"^^xsd:string, "NCI:C34873"^^xsd:string, "SNOMEDCT_US_2021_03_01:154369005"^^xsd:string, "UMLS_CUI:C0029291"^^xsd:string ; oboInOwl:hasExactSynonym "psittacosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11262"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "ornithosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_83554 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000009 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11263 obo:IAO_0000115 "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis."^^xsd:string ; oboInOwl:hasExactSynonym "Chlamydia trachomatis infectious disease"@en, "Chlamydial Infection"@en, "chlamydial disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11263"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "chlamydia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_813 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ] . obo:DOID_11264 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11264"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydophila infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11265 obo:IAO_0000115 "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13013"^^xsd:string, "DOID:13264"^^xsd:string ; oboInOwl:hasDbXref "GARD:10374"^^xsd:string, "ICD10CM:A71"^^xsd:string, "ICD10CM:A71.0"^^xsd:string, "ICD10CM:A71.1"^^xsd:string, "ICD9CM:076"^^xsd:string, "ICD9CM:076.0"^^xsd:string, "ICD9CM:076.1"^^xsd:string, "MESH:D014141"^^xsd:string, "SNOMEDCT_US_2021_03_01:154367007"^^xsd:string, "SNOMEDCT_US_2021_03_01:29976007"^^xsd:string, "SNOMEDCT_US_2021_03_01:52812002"^^xsd:string, "UMLS_CUI:C0040592"^^xsd:string, "UMLS_CUI:C0153107"^^xsd:string, "UMLS_CUI:C0153108"^^xsd:string ; oboInOwl:hasExactSynonym "active stage trachoma"@en, "trachoma dubium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11265"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "trachoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, obo:DOID_5614, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_813 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000006 obo:TRANS_0000007 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] . obo:DOID_11266 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade orthohantavirus has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom hemorrhagic features, has symptom proteinuria, and has symptom renal failure."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A98.5"^^xsd:string, "ICD9CM:078.6"^^xsd:string, "MESH:D006480"^^xsd:string, "NCI:C84753"^^xsd:string, "SNOMEDCT_US_2021_03_01:186701001"^^xsd:string, "UMLS_CUI:C0019101"^^xsd:string ; oboInOwl:hasExactSynonym "HFRS"@en, "Hemorrhagic fever, Russian"@en, "Hemorrhagic nephrosonephritis"@en, "Puumala virus nephropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11266"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Hantavirus hemorrhagic fever with renal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_557, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_1980467 obo:NCBITaxon_1980471 obo:NCBITaxon_1980486 obo:NCBITaxon_1980490 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000083 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000367 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000760 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_934 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] ) ] . obo:DOID_11267 oboInOwl:hasDbXref "GARD:6825"^^xsd:string, "ICD10CM:H18.44"^^xsd:string, "ICD9CM:371.45"^^xsd:string, "MESH:C536156"^^xsd:string, "SNOMEDCT_US_2021_03_01:85149007"^^xsd:string, "UMLS_CUI:C0152455"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11267"^^xsd:string ; a owl:Class ; rdfs:label "keratomalacia"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11268 oboInOwl:hasExactSynonym "vitamin A deficiency with keratomalacia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11268"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with keratomalacia"^^xsd:string ; owl:deprecated true . obo:DOID_11269 oboInOwl:hasDbXref "ICD10CM:K04.5"^^xsd:string, "ICD9CM:522.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:718052004"^^xsd:string, "UMLS_CUI:C0392492"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11269"^^xsd:string ; a owl:Class ; rdfs:label "chronic apical periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_823 . obo:DOID_11271 oboInOwl:hasAlternativeId "DOID:11270"^^xsd:string, "DOID:14011"^^xsd:string, "DOID:14012"^^xsd:string ; oboInOwl:hasExactSynonym "hypertension secondary to renal disease, antepartum"@en, "hypertension secondary to renal disease, postpartum"@en, "hypertension secondary to renal disease, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11271"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_11275 oboInOwl:hasExactSynonym "Syphilis of muscle (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11275"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete muscle syphilis"^^xsd:string ; owl:deprecated true . obo:DOID_11277 oboInOwl:hasDbXref "ICD10CM:E05.2"^^xsd:string, "ICD9CM:242.3"^^xsd:string, "NCI:C35171"^^xsd:string, "SNOMEDCT_US_2021_03_01:57777000"^^xsd:string, "UMLS_CUI:C0342127"^^xsd:string ; oboInOwl:hasExactSynonym "Plummer disease"@en, "Toxic nodular Goiter"@en, "Toxic nodular goiter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11277"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Plummer's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7998 . obo:DOID_11282 oboInOwl:hasDbXref "ICD10CM:H31.02"^^xsd:string, "ICD9CM:363.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:1135000"^^xsd:string, "UMLS_CUI:C0152131"^^xsd:string ; oboInOwl:hasExactSynonym "Solar retinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11282"^^xsd:string ; a owl:Class ; rdfs:label "solar retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11086 . obo:DOID_11283 oboInOwl:hasDbXref "ICD9CM:363.34"^^xsd:string, "UMLS_CUI:C0154888"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11283"^^xsd:string ; a owl:Class ; rdfs:label "peripheral scars of retina"^^xsd:string ; rdfs:subClassOf obo:DOID_11086 . obo:DOID_11284 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11284"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disseminated scars of retina"^^xsd:string ; owl:deprecated true . obo:DOID_11285 obo:IAO_0000115 "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage."^^xsd:string ; oboInOwl:hasDbXref "GARD:7771"^^xsd:string, "MESH:D013985"^^xsd:string, "SNOMEDCT_US_2021_03_01:74225001"^^xsd:string, "UMLS_CUI:C0040197"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11285"^^xsd:string ; a owl:Class ; rdfs:label "tick paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_4109, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000032 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000041 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000538 ] ; skos:exactMatch "MESH:D013985"^^xsd:string . obo:DOID_11286 oboInOwl:hasExactSynonym "Toxic myoneural disorder"@en, "Toxic myoneural junction disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11286"^^xsd:string ; a owl:Class ; rdfs:label "obsolete neuromuscular junction toxic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11287 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11287"^^xsd:string ; a owl:Class ; rdfs:label "obsolete conditions involving the integument and temperature regulation of fetus and newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11289 obo:IAO_0000115 "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.7"^^xsd:string, "ICD9CM:495.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:48347002"^^xsd:string, "UMLS_CUI:C0155891"^^xsd:string ; oboInOwl:hasExactSynonym "Air-conditioner and humidifier lung"@en, "Humidifier lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11289"^^xsd:string ; a owl:Class ; rdfs:label "ventilation pneumonitis"^^xsd:string ; rdfs:subClassOf obo:DOID_841 . obo:DOID_1129 oboInOwl:hasDbXref "MESH:D010899"^^xsd:string, "NCI:C26853"^^xsd:string, "SNOMEDCT_US_2021_03_01:237701005"^^xsd:string, "UMLS_CUI:C0032001"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary apoplexy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1129"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary apoplexy"^^xsd:string ; rdfs:subClassOf obo:DOID_1130 . obo:DOID_11294 obo:IAO_0000115 "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I77.0"^^xsd:string, "NCI:C2882"^^xsd:string, "SNOMEDCT_US_2021_03_01:403966009"^^xsd:string, "UMLS_CUI:C0334533"^^xsd:string ; oboInOwl:hasExactSynonym "Arteriovenous hemangioma"@en, "Cirsoid aneurysm"@en, "Racemose Angioma"@en, "Racemose aneurysm"@en, "Racemose hemangioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11294"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arteriovenous malformation"^^xsd:string ; rdfs:subClassOf obo:DOID_255 . obo:DOID_11295 oboInOwl:hasDbXref "ICD9CM:362.14"^^xsd:string, "MESH:D000071071"^^xsd:string, "SNOMEDCT_US_2021_03_01:34037000"^^xsd:string, "UMLS_CUI:C0154834"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11295"^^xsd:string ; a owl:Class ; rdfs:label "retinal microaneurysm"^^xsd:string ; rdfs:subClassOf obo:DOID_2462 . obo:DOID_11299 oboInOwl:hasDbXref "ICD10CM:I65.0"^^xsd:string, "ICD9CM:433.2"^^xsd:string, "UMLS_CUI:C0155724"^^xsd:string ; oboInOwl:hasExactSynonym "Occlusion and stenosis of vertebral artery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11299"^^xsd:string ; a owl:Class ; rdfs:label "vertebral artery occlusion"^^xsd:string ; rdfs:subClassOf obo:DOID_0050828, obo:DOID_5976 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5976 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001535 ] ) ] . obo:DOID_113 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete pneumopericardium"^^xsd:string ; owl:deprecated true . obo:DOID_1130 oboInOwl:hasDbXref "NCI:C27117"^^xsd:string, "SNOMEDCT_US_2021_03_01:95830009"^^xsd:string, "UMLS_CUI:C0342405"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary infarction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1130"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pituitary infarct"^^xsd:string ; rdfs:subClassOf obo:DOID_3646 . obo:DOID_11302 obo:IAO_0000115 "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:9747"^^xsd:string, "ICD10CM:B65.3"^^xsd:string, "ICD9CM:120.3"^^xsd:string, "NCI:C34457"^^xsd:string, "SNOMEDCT_US_2021_03_01:187115002"^^xsd:string, "UMLS_CUI:C0546996"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous schistosomiasis"@en, "Sea bather's eruption"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11302"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cercarial dermatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1395, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_11307 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11307"^^xsd:string ; a owl:Class ; rdfs:label "obsolete subchronic state latent schizophrenia with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_11308 oboInOwl:hasExactSynonym "Latent schizophrenia in remission (disorder)"@en, "Latent schizophrenia, in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11308"^^xsd:string ; a owl:Class ; rdfs:label "obsolete latent schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_11309 oboInOwl:hasExactSynonym "Latent chronic Schizophrenia"@en, "Latent schizophrenia, chronic state"@en, "chronic latent schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11309"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic latent schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_11312 oboInOwl:hasDbXref "ICD9CM:426.12"^^xsd:string, "NCI:C62018"^^xsd:string, "SNOMEDCT_US_2021_03_01:28189009"^^xsd:string, "UMLS_CUI:C0155700"^^xsd:string ; oboInOwl:hasExactSynonym "Mobitz (type) II atrioventricular block"@en, "Mobitz II atrioventricular block"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11312"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Mobitz type II atrioventricular block"^^xsd:string ; rdfs:subClassOf obo:DOID_0050822 . obo:DOID_11314 obo:IAO_0000115 "An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma duboisii with retinitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11314"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma duboisii retinitis"^^xsd:string ; owl:deprecated true . obo:DOID_11315 obo:IAO_0000115 "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:115.10"^^xsd:string, "UMLS_CUI:C0153270"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11315"^^xsd:string ; a owl:Class ; rdfs:label "African histoplasmosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1731, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_11316 oboInOwl:hasDbXref "ICD9CM:115.92"^^xsd:string, "SNOMEDCT_US_2021_03_01:187058000"^^xsd:string, "UMLS_CUI:C0153278"^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasmosis with retinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11316"^^xsd:string ; a owl:Class ; rdfs:label "histoplasmosis retinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3612 . obo:DOID_11320 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems."^^xsd:string ; oboInOwl:hasDbXref "GARD:8257"^^xsd:string, "ICD10CM:A98.2"^^xsd:string, "ICD9CM:065.2"^^xsd:string, "MESH:D007733"^^xsd:string, "SNOMEDCT_US_2021_03_01:23097003"^^xsd:string, "UMLS_CUI:C0022810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11320"^^xsd:string ; oboInOwl:inSubset doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "Kyasanur forest disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_33743 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000020 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_11327 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11327"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute schizophrenic episode subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_11328 obo:IAO_0000115 "A psychotic disorder that involves schizophrenia symptoms over time period of one month."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F20.81"^^xsd:string, "ICD9CM:295.4"^^xsd:string, "MESH:D011618"^^xsd:string, "NCI:C94376"^^xsd:string, "SNOMEDCT_US_2021_03_01:88975006"^^xsd:string, "UMLS_CUI:C0036358"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11328"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schizophreniform disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2468 . obo:DOID_11329 obo:IAO_0000115 "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later."^^xsd:string ; oboInOwl:hasDbXref "GARD:9512"^^xsd:string, "ICD10CM:L94.6"^^xsd:string, "ICD9CM:136.0"^^xsd:string, "MESH:D000387"^^xsd:string, "NCI:C84544"^^xsd:string, "OMIM:103400"^^xsd:string, "SNOMEDCT_US_2021_03_01:51404004"^^xsd:string, "UMLS_CUI:C0001860"^^xsd:string ; oboInOwl:hasExactSynonym "Ainhum"@en, "Dactylolysis spontanea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11329"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ainhum"^^xsd:string ; rdfs:subClassOf obo:DOID_65 ; skos:exactMatch "MESH:D000387"^^xsd:string . obo:DOID_11330 oboInOwl:hasDbXref "GARD:6370"^^xsd:string, "ICD10CM:A46"^^xsd:string, "ICD9CM:035"^^xsd:string, "MESH:D004886"^^xsd:string, "SNOMEDCT_US_2021_03_01:266005008"^^xsd:string, "UMLS_CUI:C0014733"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11330"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "erysipelas"^^xsd:string ; rdfs:subClassOf obo:DOID_2723 . obo:DOID_11335 obo:IAO_0000115 "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:7607"^^xsd:string, "ICD10CM:D86"^^xsd:string, "ICD9CM:135"^^xsd:string, "MESH:D012507"^^xsd:string, "NCI:C34995"^^xsd:string, "ORDO:797"^^xsd:string, "SNOMEDCT_US_2021_03_01:154425004"^^xsd:string, "UMLS_CUI:C0036202"^^xsd:string ; oboInOwl:hasExactSynonym "Boeck sarcoid"@en, "lymphogranulomatosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11335"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "sarcoidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2916 ; skos:exactMatch "MESH:D012507"^^xsd:string . obo:DOID_11336 obo:IAO_0000115 "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:040.1"^^xsd:string, "MESH:D012226"^^xsd:string, "SNOMEDCT_US_2021_03_01:72409005"^^xsd:string, "UMLS_CUI:C0035468"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11336"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "rhinoscleroma"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338 . obo:DOID_11337 obo:IAO_0000115 "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling."^^xsd:string ; oboInOwl:hasDbXref "GARD:6882"^^xsd:string, "ICD9CM:040.3"^^xsd:string, "MESH:D005674"^^xsd:string, "SNOMEDCT_US_2021_03_01:52542005"^^xsd:string, "UMLS_CUI:C0027537"^^xsd:string ; oboInOwl:hasExactSynonym "Lemierre syndrome"@en, "human necrobacillosis"@en, "postanginal sepsis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "acute sore throat"@en ; oboInOwl:id "DOID:11337"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Lemierre's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050339, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000634 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_11338 obo:IAO_0000115 "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli."^^xsd:string ; oboInOwl:hasDbXref "GARD:5144"^^xsd:string, "ICD10CM:A35"^^xsd:string, "ICD9CM:037"^^xsd:string, "MESH:D013742"^^xsd:string, "NCI:C85185"^^xsd:string, "SNOMEDCT_US_2021_03_01:154312006"^^xsd:string, "UMLS_CUI:C0039614"^^xsd:string ; oboInOwl:hasExactSynonym "Infection due to Clostridium tetani"@en, "clostridial tetanus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11338"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tetanus"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1513 ] . obo:DOID_11339 obo:IAO_0000115 "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever."^^xsd:string ; oboInOwl:hasDbXref "GARD:4386"^^xsd:string, "ICD10CM:B59"^^xsd:string, "ICD9CM:136.3"^^xsd:string, "MESH:D011020"^^xsd:string, "NCI:C3334"^^xsd:string, "SNOMEDCT_US_2021_03_01:57541005"^^xsd:string, "UMLS_CUI:C1535939"^^xsd:string ; oboInOwl:hasExactSynonym "Pneumocystis carinii pneumonia"@en, "Pneumocystis jirovecii pneumonia"@en, "Pneumocystis pneumonia"@en, "Pneumocystosis"@en, "Pneumocystosis pneumonia"@en, "pulmonary pneumocystosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pneumocystosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_42068 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_1134 oboInOwl:hasAlternativeId "DOID:1133"^^xsd:string, "DOID:13280"^^xsd:string, "DOID:13901"^^xsd:string, "DOID:2405"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K06.0"^^xsd:string, "ICD10CM:K06.01"^^xsd:string, "ICD9CM:523.2"^^xsd:string, "ICD9CM:523.24"^^xsd:string, "MESH:D005889"^^xsd:string, "NCI:C82068"^^xsd:string, "SNOMEDCT_US_2021_03_01:155645006"^^xsd:string, "SNOMEDCT_US_2021_03_01:59898000"^^xsd:string, "UMLS_CUI:C0017572"^^xsd:string, "UMLS_CUI:C0266916"^^xsd:string ; oboInOwl:hasExactSynonym "Gingival recession"@en, "Gingival recession, localized"@en, "localized gingival recession"@en, "minimal gingival recession"@en, "moderate gingival recession"@en, "severe gingival recession"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1134"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gingival recession"^^xsd:string ; rdfs:subClassOf obo:DOID_1483 . obo:DOID_11340 obo:IAO_0000115 "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Pneumocystis carinii (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11340"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pneumocystis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11341 obo:IAO_0000115 "A lung disease that is a mycosis caused by fungal growth in the lungs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11341"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fungal lung infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11342 oboInOwl:hasDbXref "ICD10CM:H18.41"^^xsd:string, "MESH:D001112"^^xsd:string, "OMIM:107800"^^xsd:string, "SNOMEDCT_US_2021_03_01:155159000"^^xsd:string, "UMLS_CUI:C0003742"^^xsd:string ; oboInOwl:hasExactSynonym "Arcus of cornea"@en, "corneal arcus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11342"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "arcus senilis"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11343 obo:IAO_0000115 "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15"^^xsd:string, "MESH:D015422"^^xsd:string, "NCI:C79717"^^xsd:string, "SNOMEDCT_US_2021_03_01:33064008"^^xsd:string, "UMLS_CUI:C0036412"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11343"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "scleral disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_11346 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11346"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital osteodystrophy"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_11347 oboInOwl:hasExactSynonym "Inactive Meniere's disease"@en, "Mnire's disease in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11347"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Meniere's disease in remission"^^xsd:string ; owl:deprecated true . obo:DOID_11349 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11349"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epilepsia partialis continua"^^xsd:string ; owl:deprecated true . obo:DOID_11350 oboInOwl:hasExactSynonym "Grand mal status"@en, "Grand mal status (disorder)"@en, "Grand mal status, epileptic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11350"^^xsd:string ; a owl:Class ; rdfs:label "obsolete grand mal status epilepticus"^^xsd:string ; owl:deprecated true . obo:DOID_11352 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11352"^^xsd:string ; a owl:Class ; rdfs:label "obsolete epilepsia partialis continua with intractable epilepsy"^^xsd:string ; owl:deprecated true . obo:DOID_11353 oboInOwl:hasDbXref "ICD10CM:N32.3"^^xsd:string, "ICD9CM:596.3"^^xsd:string, "MESH:C562406"^^xsd:string, "NCI:C160155"^^xsd:string, "OMIM:109820"^^xsd:string, "SNOMEDCT_US_2021_03_01:268335001"^^xsd:string, "UMLS_CUI:C0156273"^^xsd:string ; oboInOwl:hasExactSynonym "Diverticulum - bladder"@en, "Diverticulum of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11353"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "bladder diverticulum"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_11354 oboInOwl:hasDbXref "ICD10CM:N21.0"^^xsd:string, "ICD9CM:594.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:18109005"^^xsd:string, "UMLS_CUI:C0156265"^^xsd:string ; oboInOwl:hasExactSynonym "calculus in diverticulum of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11354"^^xsd:string ; a owl:Class ; rdfs:label "stone in bladder diverticulum"^^xsd:string ; rdfs:subClassOf obo:DOID_11353 . obo:DOID_11355 oboInOwl:hasDbXref "ICD10CM:N21.0"^^xsd:string, "MESH:D001744"^^xsd:string, "SNOMEDCT_US_2021_03_01:155879005"^^xsd:string, "UMLS_CUI:C0005683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11355"^^xsd:string ; a owl:Class ; rdfs:label "bladder calculus"^^xsd:string ; rdfs:subClassOf obo:DOID_365, obo:DOID_9590, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_11360 obo:IAO_0000115 "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A93.1"^^xsd:string, "ICD9CM:066.0"^^xsd:string, "MESH:D010217"^^xsd:string, "SNOMEDCT_US_2021_03_01:33670001"^^xsd:string, "UMLS_CUI:C0030372"^^xsd:string ; oboInOwl:hasExactSynonym "Sandfly fever"@en, "Sandfly-borne arboviral fever"@en, "Sandfly-borne bunyavirus fever"@en, "Sandfly-borne phleboviral disease"@en, "pappataci fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11360"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Phlebotomus fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_206160 obo:NCBITaxon_28292 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_29031 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000529 ] . obo:DOID_11361 oboInOwl:hasExactSynonym "Tick-borne fever (disorder)"@en, "Tick-borne fever NOS (disorder)"@en, "pasture fever"@en, "tick-borne fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11361"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease ; a owl:Class ; rdfs:label "obsolete tickborne fever"^^xsd:string ; owl:deprecated true . obo:DOID_11364 oboInOwl:hasDbXref "ICD10CM:H27.11"^^xsd:string, "ICD9CM:379.32"^^xsd:string, "MESH:D007906"^^xsd:string, "NCI:C34772"^^xsd:string, "SNOMEDCT_US_2021_03_01:155203002"^^xsd:string, "UMLS_CUI:C0023316"^^xsd:string ; oboInOwl:hasExactSynonym "Subluxation of lens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11364"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lens subluxation"^^xsd:string ; rdfs:subClassOf obo:DOID_110 ; skos:exactMatch "MESH:D007906"^^xsd:string . obo:DOID_11367 oboInOwl:hasDbXref "ICD10CM:Q12.3"^^xsd:string, "ICD9CM:743.35"^^xsd:string, "NCI:C35172"^^xsd:string, "OMIM:610256"^^xsd:string, "SNOMEDCT_US_2021_03_01:35387008"^^xsd:string, "UMLS_CUI:C0152422"^^xsd:string ; oboInOwl:hasExactSynonym "APHAKIA, CONGENITAL PRIMARY"@en, "Congenital absence of lens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11367"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "congenital aphakia"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, obo:DOID_110, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] . obo:DOID_11371 oboInOwl:hasDbXref "ICD10CM:K59.1"^^xsd:string, "ICD9CM:564.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:47812002"^^xsd:string, "UMLS_CUI:C0156173"^^xsd:string ; oboInOwl:hasExactSynonym "Functional diarrhea"@en, "Functional diarrhoea"@en, "functional diarrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11371"^^xsd:string ; a owl:Class ; rdfs:label "functional diarrhea"^^xsd:string ; rdfs:subClassOf obo:DOID_5353, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_11372 obo:IAO_0000115 "A colonic disease that is characterized by an abnormal dilation of the colon."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1771"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K59.39"^^xsd:string, "MESH:D008531"^^xsd:string, "NCI:C34810"^^xsd:string, "SNOMEDCT_US_2021_03_01:33995003"^^xsd:string, "UMLS_CUI:C0025160"^^xsd:string ; oboInOwl:hasExactSynonym "Dilatation of colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11372"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "megacolon"^^xsd:string ; rdfs:subClassOf obo:DOID_5353 . obo:DOID_11374 oboInOwl:hasDbXref "ICD10CM:K59.4"^^xsd:string, "ICD9CM:564.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:197136003"^^xsd:string, "UMLS_CUI:C0152167"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11374"^^xsd:string ; a owl:Class ; rdfs:label "anal spasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3128 . obo:DOID_11377 oboInOwl:hasAlternativeId "DOID:11376"^^xsd:string ; oboInOwl:hasExactSynonym "calculus of gallbladder and bile duct with acute cholecystitis, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11377"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of gallbladder and bile duct with acute cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11379 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis."^^xsd:string ; oboInOwl:hasDbXref "GARD:9286"^^xsd:string, "ICD10CM:B83.1"^^xsd:string, "ICD9CM:128.1"^^xsd:string, "MESH:D058429"^^xsd:string, "NCI:C128395"^^xsd:string, "SNOMEDCT_US_2021_03_01:44086001"^^xsd:string, "UMLS_CUI:C0018013"^^xsd:string ; oboInOwl:hasExactSynonym "Gnathostomiasis"@en, "Infectious Disease by Gnathostoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11379"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gnathomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_61463 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_1138 oboInOwl:hasDbXref "GARD:10264"^^xsd:string, "MESH:D008579"^^xsd:string, "NCI:C6935"^^xsd:string, "SNOMEDCT_US_2021_03_01:189167009"^^xsd:string, "UMLS_CUI:C0347515"^^xsd:string ; oboInOwl:hasExactSynonym "Spinal Cord meningioma"@en, "Spinal meningioma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1138"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_1140, obo:DOID_3565 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3565 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002240 ] ) ] . obo:DOID_11382 oboInOwl:hasDbXref "ICD10CM:H16.4"^^xsd:string, "ICD9CM:370.6"^^xsd:string, "MESH:D016510"^^xsd:string, "SNOMEDCT_US_2021_03_01:19161004"^^xsd:string, "UMLS_CUI:C0085109"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11382"^^xsd:string ; a owl:Class ; rdfs:label "corneal neovascularization"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_11383 oboInOwl:hasDbXref "ICD10CM:Q53.9"^^xsd:string, "ICD9CM:752.51"^^xsd:string, "MESH:D003456"^^xsd:string, "NCI:C12326"^^xsd:string, "OMIM:219050"^^xsd:string, "SNOMEDCT_US_2021_03_01:204879009"^^xsd:string, "UMLS_CUI:C0010417"^^xsd:string ; oboInOwl:hasExactSynonym "Cryptorchism"@en, "Undescended testicle"@en, "Undescended testis"@en, "undescended testicles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11383"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "cryptorchidism"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_11385 obo:IAO_0000115 "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.1"^^xsd:string, "ICD9CM:315.31"^^xsd:string, "NCI:C92562"^^xsd:string, "SNOMEDCT_US_2021_03_01:80360005"^^xsd:string, "UMLS_CUI:C0236826"^^xsd:string ; oboInOwl:hasExactSynonym "Developmental expressive language disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11385"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "expressive language disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_93 . obo:DOID_11387 obo:IAO_0000115 "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges)."^^xsd:string ; oboInOwl:hasDbXref "MESH:D020802"^^xsd:string, "SNOMEDCT_US_2021_03_01:310671007"^^xsd:string, "UMLS_CUI:C0270629"^^xsd:string ; oboInOwl:hasExactSynonym "abscess epidural"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11387"^^xsd:string ; a owl:Class ; rdfs:label "epidural abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_331 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003691 ] ) ] . obo:DOID_11389 obo:IAO_0000115 "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013354"^^xsd:string, "SNOMEDCT_US_2021_03_01:37660004"^^xsd:string, "UMLS_CUI:C0038539"^^xsd:string ; oboInOwl:hasExactSynonym "Subdural abscess"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11389"^^xsd:string ; a owl:Class ; rdfs:label "subdural empyema"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_11390 oboInOwl:hasDbXref "ICD9CM:437.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:28366008"^^xsd:string, "UMLS_CUI:C0007773"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral arteritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11390"^^xsd:string ; a owl:Class ; rdfs:label "cerebral arteritis"^^xsd:string ; rdfs:subClassOf obo:DOID_6713, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001893 ] . obo:DOID_11394 obo:IAO_0000115 "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia."^^xsd:string ; oboInOwl:hasDbXref "GARD:5698"^^xsd:string, "ICD10CM:J80"^^xsd:string, "MESH:D012128"^^xsd:string, "NCI:C3353"^^xsd:string, "SNOMEDCT_US_2021_03_01:155627006"^^xsd:string, "UMLS_CUI:C0035222"^^xsd:string ; oboInOwl:hasExactSynonym "ARDS"@en, "Non-cardiogenic pulmonary edema"@en, "Shock lung"@en, "acute respiratory distress syndrome"^^xsd:string, "adult RDS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11394"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "adult respiratory distress syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11162, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000450 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0003581 ] . obo:DOID_11396 obo:IAO_0000115 "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13472"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J81"^^xsd:string, "MESH:D011654"^^xsd:string, "NCI:C26868"^^xsd:string, "SNOMEDCT_US_2021_03_01:19242006"^^xsd:string, "UMLS_CUI:C0034063"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11396"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pulmonary edema"^^xsd:string ; rdfs:subClassOf obo:DOID_11162 . obo:DOID_114 obo:IAO_0000115 "A cardiovascular system disease that involves the heart."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I51.9"^^xsd:string, "ICD9CM:429.9"^^xsd:string, "MESH:D006331"^^xsd:string, "NCI:C3079"^^xsd:string, "SNOMEDCT_US_2021_03_01:194707003"^^xsd:string, "UMLS_CUI:C0018799"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:114"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1287 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] ) ] . obo:DOID_1140 oboInOwl:hasDbXref "NCI:C5134"^^xsd:string, "UMLS_CUI:C1334264"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1140"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal canal and spinal cord meningioma"^^xsd:string ; rdfs:subClassOf obo:DOID_5612 . obo:DOID_11400 oboInOwl:hasDbXref "ICD10CM:N16"^^xsd:string, "ICD9CM:590.80"^^xsd:string, "MESH:D011704"^^xsd:string, "NCI:C34965"^^xsd:string, "SNOMEDCT_US_2021_03_01:45816000"^^xsd:string, "UMLS_CUI:C0034186"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyelonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_2744 . obo:DOID_11401 oboInOwl:hasDbXref "MESH:D011705"^^xsd:string, "NCI:C123038"^^xsd:string, "SNOMEDCT_US_2021_03_01:197777006"^^xsd:string, "UMLS_CUI:C0034188"^^xsd:string ; oboInOwl:hasExactSynonym "Xanthogranulomatous pyelonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "xanthogranulomatous pyelonephritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1076 . obo:DOID_11403 oboInOwl:hasExactSynonym "Drug-induced depressive state (disorder)"@en, "Drug-induced mood disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11403"^^xsd:string ; a owl:Class ; rdfs:label "obsolete depressive state induced by drug"^^xsd:string ; owl:deprecated true . obo:DOID_11404 obo:IAO_0000115 "A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough."^^xsd:string ; oboInOwl:hasExactSynonym "laryngeal Diphtheria"@en, "laryngeal diphtheria"@en, "laryngeal diphtheria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11404"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete diphtheritic laryngotracheitis"^^xsd:string ; owl:deprecated true . obo:DOID_11405 obo:IAO_0000115 "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4132"^^xsd:string ; oboInOwl:hasDbXref "GARD:1875"^^xsd:string, "MESH:D003354"^^xsd:string, "SNOMEDCT_US_2021_03_01:397434007"^^xsd:string, "UMLS_CUI:C0010153"^^xsd:string ; oboInOwl:hasExactSynonym "corynebacterium infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11405"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "diphtheria"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1717 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000007 obo:TRANS_0000008 ) ] ] . obo:DOID_11406 oboInOwl:hasDbXref "GARD:6062"^^xsd:string, "ICD10CM:H30.9"^^xsd:string, "MESH:D002833"^^xsd:string, "NCI:C35111"^^xsd:string, "SNOMEDCT_US_2021_03_01:16553002"^^xsd:string, "UMLS_CUI:C0008526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11406"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_1417 . obo:DOID_11409 oboInOwl:hasExactSynonym "Syphilitic disseminated retinochoroiditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11409"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic disseminated chorioretinitis"^^xsd:string ; owl:deprecated true . obo:DOID_1141 oboInOwl:hasExactSynonym "Alternating exotropia with V pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1141"^^xsd:string ; a owl:Class ; rdfs:label "obsolete alternating exotropia with V pattern"^^xsd:string ; owl:deprecated true . obo:DOID_11418 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination."^^xsd:string ; oboInOwl:hasExactSynonym "Trichomonal urethritis (disorder)"@en, "trichomonal urethritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11418"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas urethritis"^^xsd:string ; owl:deprecated true . obo:DOID_1142 oboInOwl:hasDbXref "ICD10CM:H50.15"^^xsd:string, "ICD9CM:378.15"^^xsd:string, "MESH:D005099"^^xsd:string, "SNOMEDCT_US_2021_03_01:194093000"^^xsd:string, "UMLS_CUI:C0152207"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1142"^^xsd:string ; a owl:Class ; rdfs:label "alternating exotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_1143 . obo:DOID_11421 oboInOwl:hasExactSynonym "Cavovarus deformity of foot, acquired"@en, "acquired cavovarus deformity of foot (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11421"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired cavovarus foot deformity"^^xsd:string ; owl:deprecated true . obo:DOID_11424 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.2"^^xsd:string, "ICD9CM:617.2"^^xsd:string, "NCI:C26763"^^xsd:string, "SNOMEDCT_US_2021_03_01:22611009"^^xsd:string, "UMLS_CUI:C0014177"^^xsd:string ; oboInOwl:hasExactSynonym "Endometriosis of fallopian tube"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11424"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fallopian tube endometriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1962, obo:DOID_289 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_289 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003889 ] ) ] . obo:DOID_11427 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube."^^xsd:string ; oboInOwl:hasDbXref "NCI:C40121"^^xsd:string, "SNOMEDCT_US_2021_03_01:55850004"^^xsd:string, "UMLS_CUI:C0269106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11427"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endosalpingiosis"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_11428 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.5"^^xsd:string, "ICD9CM:617.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:5562006"^^xsd:string, "UMLS_CUI:C0156347"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11428"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis of intestine"^^xsd:string ; rdfs:subClassOf obo:DOID_289, obo:DOID_5295 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_289 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] ) ] . obo:DOID_11429 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.3"^^xsd:string, "ICD9CM:617.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:198251001"^^xsd:string, "UMLS_CUI:C0156345"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11429"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis of pelvic peritoneum"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_1143 oboInOwl:hasDbXref "ICD10CM:H50.1"^^xsd:string, "ICD9CM:378.1"^^xsd:string, "MESH:D005099"^^xsd:string, "NCI:C34601"^^xsd:string, "SNOMEDCT_US_2021_03_01:155194007"^^xsd:string, "UMLS_CUI:C0015310"^^xsd:string ; oboInOwl:hasExactSynonym "Divergent Strabismus"@en, "Divergent concomitant strabismus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "exotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_11430 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.6"^^xsd:string, "ICD9CM:617.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:53913001"^^xsd:string, "UMLS_CUI:C0156348"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11430"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis in scar of skin"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_11431 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.4"^^xsd:string, "ICD9CM:617.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:198253003"^^xsd:string, "UMLS_CUI:C0156346"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11431"^^xsd:string ; a owl:Class ; rdfs:label "endometriosis of rectovaginal septum and vagina"^^xsd:string ; rdfs:subClassOf obo:DOID_289 . obo:DOID_11432 obo:IAO_0000115 "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11426"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N80.1"^^xsd:string, "ICD9CM:617.1"^^xsd:string, "NCI:C27628"^^xsd:string, "SNOMEDCT_US_2021_03_01:198250000"^^xsd:string, "UMLS_CUI:C0156344"^^xsd:string ; oboInOwl:hasExactSynonym "ovarian endometriosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11432"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "endometriosis of ovary"^^xsd:string ; rdfs:subClassOf obo:DOID_1100, obo:DOID_289 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_289 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000992 ] ) ] . obo:DOID_11436 oboInOwl:hasExactSynonym "recurrent cholesteatoma of postmastoidectomy cavity"@en, "recurrent cholesteatoma of postmastoidectomy cavity (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11436"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent cholesteatoma post-mastoidectomy"^^xsd:string ; owl:deprecated true . obo:DOID_11441 oboInOwl:hasExactSynonym "Macrodactylia of toes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11441"^^xsd:string ; a owl:Class ; rdfs:label "obsolete macrodactylia of toes"^^xsd:string ; owl:deprecated true . obo:DOID_11442 oboInOwl:hasExactSynonym "Mast cell malignancy of lymph nodes of head, face and neck (disorder)"@en, "malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder)"@en, "malignant mast cell tumors involving lymph nodes of head, face, and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11442"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant mast cell tumors involving lymph node of head"^^xsd:string ; owl:deprecated true . obo:DOID_11446 oboInOwl:hasDbXref "MESH:D020426"^^xsd:string, "SNOMEDCT_US_2021_03_01:52585001"^^xsd:string, "UMLS_CUI:C0149940"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11446"^^xsd:string ; a owl:Class ; rdfs:comment "PRISM."^^xsd:string ; rdfs:label "sciatic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_12528 . obo:DOID_11450 obo:IAO_0000115 "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin."^^xsd:string ; oboInOwl:hasExactSynonym "Allergic Cutaneous Angiitis"@en, "Autoimmune Hypersensitivity angiitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11450"^^xsd:string ; a owl:Class ; rdfs:label "allergic cutaneous vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1205, obo:DOID_9809, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_11451 oboInOwl:hasExactSynonym "acute secondary syphilitic meningitis (disorder)"@en, "acute syphilitic meningitis (secondary)"@en, "secondary acute syphilitic meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11451"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11452 oboInOwl:hasDbXref "ICD9CM:774.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:206463003"^^xsd:string, "UMLS_CUI:C0158976"^^xsd:string ; oboInOwl:hasExactSynonym "Perinatal jaundice due to hepatocellular damage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11452"^^xsd:string ; a owl:Class ; rdfs:label "perinatal jaundice due to hepatocellular damage"^^xsd:string ; rdfs:subClassOf obo:DOID_2383 . obo:DOID_11457 obo:IAO_0000115 "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G93.5"^^xsd:string, "ICD9CM:348.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:46963008"^^xsd:string, "UMLS_CUI:C0009592"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11457"^^xsd:string ; a owl:Class ; rdfs:label "brain compression"^^xsd:string ; rdfs:subClassOf obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_11459 oboInOwl:hasDbXref "GARD:4561"^^xsd:string, "ICD10CM:G93.2"^^xsd:string, "ICD9CM:348.2"^^xsd:string, "MESH:D011559"^^xsd:string, "NCI:C85035"^^xsd:string, "OMIM:243200"^^xsd:string, "SNOMEDCT_US_2021_03_01:68267002"^^xsd:string, "UMLS_CUI:C0033845"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudotumor cerebri"@en, "benign intracran. hypt."@en, "benign intracranial hypertension"@en, "idiopathic intracranial hypertension"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11459"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pseudotumor cerebri"^^xsd:string ; rdfs:subClassOf obo:DOID_9428, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_11465 oboInOwl:hasDbXref "ICD9CM:337.1"^^xsd:string, "UMLS_CUI:C0154691"^^xsd:string ; oboInOwl:hasExactSynonym "autonomic nervous system disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11465"^^xsd:string ; a owl:Class ; rdfs:label "autonomic nervous system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002410 ] ) ] . obo:DOID_11472 oboInOwl:hasDbXref "ICD10CM:C32.2"^^xsd:string, "ICD9CM:161.2"^^xsd:string, "NCI:C3546"^^xsd:string, "SNOMEDCT_US_2021_03_01:94075002"^^xsd:string, "UMLS_CUI:C0153485"^^xsd:string ; oboInOwl:hasExactSynonym "Ca larynx - subglottis"@en, "malignant Subglottic tumor"@en, "malignant tumor of subglottis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11472"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "subglottis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_2596 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0036068 ] ) ] . obo:DOID_11476 obo:IAO_0000115 "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003882"^^xsd:string, "ICD10CM:M81.0"^^xsd:string, "ICD9CM:733.0"^^xsd:string, "MESH:D010024"^^xsd:string, "NCI:C3298"^^xsd:string, "OMIM:166710"^^xsd:string, "SNOMEDCT_US_2021_03_01:156825006"^^xsd:string, "UMLS_CUI:C0029456"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11476"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "osteoporosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080011 . obo:DOID_1148 obo:IAO_0000115 "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14779"^^xsd:string ; oboInOwl:hasDbXref "GARD:4410"^^xsd:string, "ICD10CM:Q69"^^xsd:string, "ICD9CM:755.0"^^xsd:string, "MESH:C562429"^^xsd:string, "MESH:D017689"^^xsd:string, "NCI:C87110"^^xsd:string, "OMIM:174200"^^xsd:string, "OMIM:174500"^^xsd:string, "OMIM:174700"^^xsd:string, "OMIM:603596"^^xsd:string, "SNOMEDCT_US_2021_03_01:205119005"^^xsd:string, "UMLS_CUI:C0152427"^^xsd:string, "UMLS_CUI:C0220697"^^xsd:string ; oboInOwl:hasExactSynonym "postaxial polydactyly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Supernumerary digit"@en ; oboInOwl:id "DOID:1148"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "polydactyly"^^xsd:string ; rdfs:subClassOf obo:DOID_0080015, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011297 ] . obo:DOID_11481 oboInOwl:hasDbXref "ICD9CM:423.2"^^xsd:string, "MESH:D010494"^^xsd:string, "NCI:C78246"^^xsd:string, "SNOMEDCT_US_2021_03_01:155340008"^^xsd:string, "UMLS_CUI:C0031048"^^xsd:string ; oboInOwl:hasExactSynonym "Constrictive pericarditis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11481"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "constrictive pericarditis"^^xsd:string ; rdfs:subClassOf obo:DOID_1787 . obo:DOID_11482 obo:IAO_0000115 "A pericardial effusion that results from blood in the pericardial sac."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:423.0"^^xsd:string, "MESH:D010490"^^xsd:string, "NCI:C111644"^^xsd:string, "SNOMEDCT_US_2021_03_01:155339006"^^xsd:string, "UMLS_CUI:C0019064"^^xsd:string ; oboInOwl:hasExactSynonym "Haemopericardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11482"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemopericardium"^^xsd:string ; rdfs:subClassOf obo:DOID_118 . obo:DOID_11486 oboInOwl:hasDbXref "GARD:6670"^^xsd:string, "ICD10CM:G90.2"^^xsd:string, "MESH:D006732"^^xsd:string, "NCI:C28155"^^xsd:string, "OMIM:143000"^^xsd:string, "SNOMEDCT_US_2021_03_01:192922002"^^xsd:string, "UMLS_CUI:C0019937"^^xsd:string ; oboInOwl:hasExactSynonym "Bernard Horner syndrome"@en, "Horner syndrome"@en, "cervical sympathetic paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11486"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Horner's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11504 . obo:DOID_11488 oboInOwl:hasDbXref "ICD10CM:G90.0"^^xsd:string, "ICD9CM:337.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:192914009"^^xsd:string, "UMLS_CUI:C0154690"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic peripheral autonomic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11488"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic peripheral autonomic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11465 . obo:DOID_11489 oboInOwl:hasExactSynonym "vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder)"@en, "vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11489"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot"^^xsd:string ; owl:deprecated true . obo:DOID_11490 oboInOwl:hasExactSynonym "vitamin A deficiency with night blindness (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11490"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with night blindness"^^xsd:string ; owl:deprecated true . obo:DOID_11491 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.62"^^xsd:string, "ICD9CM:368.62"^^xsd:string, "SNOMEDCT_US_2021_03_01:53808001"^^xsd:string, "UMLS_CUI:C0152202"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11491"^^xsd:string ; a owl:Class ; rdfs:label "acquired night blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_115 obo:IAO_0000115 "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I31.4"^^xsd:string, "ICD9CM:423.3"^^xsd:string, "MESH:D002305"^^xsd:string, "NCI:C50481"^^xsd:string, "SNOMEDCT_US_2021_03_01:266295005"^^xsd:string, "UMLS_CUI:C0007177"^^xsd:string ; oboInOwl:hasExactSynonym "Rose's tamponade"@en, "pericardial tamponade"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:115"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiac tamponade"^^xsd:string ; rdfs:subClassOf obo:DOID_118 . obo:DOID_1150 oboInOwl:hasAlternativeId "DOID:11173"^^xsd:string, "DOID:1149"^^xsd:string, "DOID:1292"^^xsd:string ; oboInOwl:hasExactSynonym "bone and joint disorder of back, pelvis and lower limbs of mother, antepartum"@en, "bone and joint disorder of back, pelvis and lower limbs of mother, postpartum"@en, "bone and joint disorder of back, pelvis and lower limbs of mother, with delivery"@en, "bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum"@en, "bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum"@en, "bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_11502 oboInOwl:hasAlternativeId "DOID:11737"^^xsd:string, "DOID:13947"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q23.3"^^xsd:string, "ICD9CM:396.3"^^xsd:string, "ICD9CM:746.6"^^xsd:string, "MESH:D008944"^^xsd:string, "NCI:C50888"^^xsd:string, "SNOMEDCT_US_2021_03_01:194736003"^^xsd:string, "SNOMEDCT_US_2021_03_01:194977007"^^xsd:string, "SNOMEDCT_US_2021_03_01:29928006"^^xsd:string, "UMLS_CUI:C0026266"^^xsd:string, "UMLS_CUI:C0158619"^^xsd:string, "UMLS_CUI:C0264774"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital insufficiency of mitral valve"@en, "Mitral valve incompetence"@en, "congenital mitral insufficiency"@en, "congenital mitral regurgitation"@en, "mitral regurgitation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11502"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mitral valve insufficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_61 . obo:DOID_11503 oboInOwl:hasDbXref "MESH:D003929"^^xsd:string, "NCI:C27068"^^xsd:string, "SNOMEDCT_US_2021_03_01:50620007"^^xsd:string, "UMLS_CUI:C0271686"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetic autonomic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11503"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetic autonomic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11504 . obo:DOID_11504 oboInOwl:hasDbXref "NCI:C27033"^^xsd:string, "SNOMEDCT_US_2021_03_01:277879009"^^xsd:string, "UMLS_CUI:C0259749"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11504"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "autonomic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_11465 . obo:DOID_11506 obo:IAO_0000115 "A otitis media which involves inflammation of the middle ear with infected effusion containing pus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H66.4"^^xsd:string, "ICD9CM:382.4"^^xsd:string, "MESH:D010035"^^xsd:string, "SNOMEDCT_US_2021_03_01:267758003"^^xsd:string, "UMLS_CUI:C0029888"^^xsd:string ; oboInOwl:hasExactSynonym "Otitis media with effusion - purulent"@en, "Purulent otitis media"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11506"^^xsd:string ; a owl:Class ; rdfs:label "suppurative otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_10754 . obo:DOID_11507 obo:IAO_0000115 "An eating disorder that is characterized by effortless regurgitation of most meals following consumption."^^xsd:string ; oboInOwl:hasDbXref "GARD:7594"^^xsd:string, "ICD9CM:307.53"^^xsd:string, "MESH:D000079562"^^xsd:string, "NCI:C92567"^^xsd:string, "SNOMEDCT_US_2021_03_01:37941009"^^xsd:string, "UMLS_CUI:C0154575"^^xsd:string ; oboInOwl:hasExactSynonym "Psychogenic rumination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11507"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "rumination disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8670 . obo:DOID_11512 oboInOwl:hasDbXref "ICD10CM:I82.0"^^xsd:string, "MESH:D006502"^^xsd:string, "OMIM:600880"^^xsd:string, "SNOMEDCT_US_2021_03_01:195436007"^^xsd:string, "UMLS_CUI:C0019154"^^xsd:string ; oboInOwl:hasExactSynonym "hepatic vein thrombosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11512"^^xsd:string ; a owl:Class ; rdfs:label "Budd-Chiari syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_272 . obo:DOID_11514 oboInOwl:hasDbXref "ICD10CM:K14.5"^^xsd:string, "ICD9CM:529.5"^^xsd:string, "MESH:D014063"^^xsd:string, "OMIM:137400"^^xsd:string, "SNOMEDCT_US_2021_03_01:52368004"^^xsd:string, "UMLS_CUI:C0040412"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital fissure of tongue"@en, "Congenital plicated tongue"@en, "Fissure of tongue"@en, "Fissure of tongue, congenital"@en, "Furrowed tongue"@en, "Plicated tongue"@en, "Tongue, Fissured"@en, "geographic tongue and fissured tongue"@en, "lingua plicata"@en, "scrotal tongue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11514"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "fissured tongue"^^xsd:string ; rdfs:subClassOf obo:DOID_10944 . obo:DOID_11516 obo:IAO_0000115 "A heart disease that is caused by high blood pressure."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I11"^^xsd:string, "ICD9CM:402"^^xsd:string, "NCI:C157879"^^xsd:string, "SNOMEDCT_US_2021_03_01:155297007"^^xsd:string, "UMLS_CUI:C0152105"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11516"^^xsd:string ; a owl:Class ; rdfs:label "hypertensive heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_114 . obo:DOID_11518 oboInOwl:hasDbXref "ICD10CM:H57.09"^^xsd:string, "ICD9CM:379.49"^^xsd:string, "UMLS_CUI:C0155376"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11518"^^xsd:string ; a owl:Class ; rdfs:label "abnormal pupillary function"^^xsd:string ; rdfs:subClassOf obo:DOID_238 . obo:DOID_11520 oboInOwl:hasDbXref "ICD9CM:403.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:193003"^^xsd:string, "UMLS_CUI:C0155596"^^xsd:string ; oboInOwl:hasExactSynonym "hypertensive renal disease, benign"@en, "hypertensive renal disease, benign, without mention of renal failure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11520"^^xsd:string ; a owl:Class ; rdfs:label "benign hypertensive renal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1073 . obo:DOID_11523 obo:IAO_0000115 "A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas."^^xsd:string ; oboInOwl:hasExactSynonym "Clostridium perfringens food poisoning"@en, "Food poisoning due to C. welchii"@en, "Food poisoning due to Clostridium perfringens (disorder)"@en, "Food poisoning due to Clostridium perfringens [C. welchii]"@en, "food poisoning due to clostridium perfringens"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11523"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Clostridium perfringens gastroenteritis"^^xsd:string ; owl:deprecated true . obo:DOID_11524 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11524"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Hyphema of iris and ciliary body"^^xsd:string ; owl:deprecated true . obo:DOID_11525 oboInOwl:hasExactSynonym "vascular disorder of iris and ciliary body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11525"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Iris and ciliary body vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11527 oboInOwl:hasDbXref "ICD10CM:J38.6"^^xsd:string, "ICD9CM:478.74"^^xsd:string, "MESH:D007829"^^xsd:string, "NCI:C79608"^^xsd:string, "SNOMEDCT_US_2021_03_01:195864007"^^xsd:string, "UMLS_CUI:C0023075"^^xsd:string ; oboInOwl:hasExactSynonym "Stenosis of larynx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11527"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "laryngostenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_786 . obo:DOID_11535 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11535"^^xsd:string ; a owl:Class ; rdfs:label "obsolete dysplasia of prostate"^^xsd:string ; owl:deprecated true . obo:DOID_11541 oboInOwl:hasDbXref "ICD10CM:H18.83"^^xsd:string, "ICD9CM:371.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:2055003"^^xsd:string, "UMLS_CUI:C0155119"^^xsd:string ; oboInOwl:hasExactSynonym "recurrent erosion of cornea"@en, "recurrent erosion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11541"^^xsd:string ; a owl:Class ; rdfs:label "recurrent corneal erosion"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11543 oboInOwl:hasDbXref "ICD10CM:H16.31"^^xsd:string, "ICD9CM:370.55"^^xsd:string, "NCI:C26969"^^xsd:string, "SNOMEDCT_US_2021_03_01:64366002"^^xsd:string, "UMLS_CUI:C0155091"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11543"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "corneal abscess"^^xsd:string ; rdfs:subClassOf obo:DOID_9858 . obo:DOID_11547 oboInOwl:hasDbXref "ICD10CM:H18.00"^^xsd:string, "ICD9CM:371.10"^^xsd:string, "SNOMEDCT_US_2021_03_01:74460005"^^xsd:string, "UMLS_CUI:C0162281"^^xsd:string ; oboInOwl:hasExactSynonym "Deposits - cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11547"^^xsd:string ; a owl:Class ; rdfs:label "corneal deposit"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11549 obo:IAO_0000115 "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon."^^xsd:string ; oboInOwl:hasDbXref "GARD:5749"^^xsd:string, "MESH:D000270"^^xsd:string, "NCI:C34357"^^xsd:string, "OMIM:103100"^^xsd:string, "SNOMEDCT_US_2021_03_01:123051004"^^xsd:string, "UMLS_CUI:C0001519"^^xsd:string ; oboInOwl:hasExactSynonym "Adie's pupil or syndrome"@en, "Adie's pupil syndrome"@en, "Adie's syndrome"@en, "Holmes-Adie syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11549"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Adie syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225 ; skos:exactMatch "MESH:D000270"^^xsd:string . obo:DOID_11550 oboInOwl:hasDbXref "ICD10CM:H49.0"^^xsd:string, "MESH:D015840"^^xsd:string, "NCI:C27597"^^xsd:string, "SNOMEDCT_US_2021_03_01:12900003"^^xsd:string, "UMLS_CUI:C0028866"^^xsd:string ; oboInOwl:hasExactSynonym "III nerve palsy"@en, "IIIrd nerve Paralysis"@en, "Third cranial nerve paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11550"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oculomotor nerve paralysis"^^xsd:string ; rdfs:subClassOf obo:DOID_562 . obo:DOID_11552 oboInOwl:hasDbXref "ICD10CM:H18.31"^^xsd:string, "ICD9CM:371.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:45382000"^^xsd:string, "UMLS_CUI:C0155115"^^xsd:string ; oboInOwl:hasExactSynonym "Bowman membrane folds or rupture"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11552"^^xsd:string ; a owl:Class ; rdfs:label "Bowman's membrane folds or rupture"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_11554 obo:IAO_0000115 "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.51"^^xsd:string, "ICD9CM:371.57"^^xsd:string, "MESH:D057129"^^xsd:string, "SNOMEDCT_US_2021_03_01:404632009"^^xsd:string, "UMLS_CUI:C0544008"^^xsd:string ; oboInOwl:hasExactSynonym "Chandler's syndrome"@en, "Dystrophy of corneal endothelium"@en, "Endothelial corneal dystrophy"@en, "Posterior membrane corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11554"^^xsd:string ; a owl:Class ; rdfs:label "Chandler syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2566 . obo:DOID_11555 obo:IAO_0000115 "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003946"^^xsd:string, "GARD:10018"^^xsd:string, "ICD10CM:H18.51"^^xsd:string, "MESH:D005642"^^xsd:string, "NCI:C84721"^^xsd:string, "OMIM:136800"^^xsd:string, "OMIM:610158"^^xsd:string, "OMIM:613267"^^xsd:string, "OMIM:613268"^^xsd:string, "OMIM:613269"^^xsd:string, "OMIM:613270"^^xsd:string, "OMIM:613271"^^xsd:string, "OMIM:615523"^^xsd:string, "ORDO:98974"^^xsd:string, "SNOMEDCT_US_2021_03_01:16949007"^^xsd:string, "UMLS_CUI:C0016781"^^xsd:string ; oboInOwl:hasExactSynonym "FCED"@en, "Fuchs' corneal dystrophy"@en, "Fuchs' endothelial corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11555"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Fuchs' endothelial dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060443 . obo:DOID_11557 obo:IAO_0000115 "A acute transudative otitis media with thin, watery and sterile effusion."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H65.0"^^xsd:string, "ICD9CM:381.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:11957006"^^xsd:string, "UMLS_CUI:C0155415"^^xsd:string ; oboInOwl:hasExactSynonym "acute non-suppurative otitis media - serous"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11557"^^xsd:string ; a owl:Class ; rdfs:label "acute serous otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_3697 . obo:DOID_11558 obo:IAO_0000115 "A acute serous otitis media caused by an allergen."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:381.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:194241005"^^xsd:string, "UMLS_CUI:C0155418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11558"^^xsd:string ; a owl:Class ; rdfs:label "acute allergic serous otitis media"^^xsd:string ; rdfs:subClassOf obo:DOID_11557, obo:DOID_1205, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] . obo:DOID_1156 obo:IAO_0000115 "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11303"^^xsd:string, "DOID:1155"^^xsd:string, "DOID:12090"^^xsd:string, "DOID:12102"^^xsd:string, "DOID:12945"^^xsd:string, "DOID:13298"^^xsd:string, "DOID:13299"^^xsd:string, "DOID:13301"^^xsd:string, "DOID:13302"^^xsd:string, "DOID:13303"^^xsd:string, "DOID:13304"^^xsd:string, "DOID:14143"^^xsd:string, "DOID:14220"^^xsd:string, "DOID:14513"^^xsd:string, "DOID:1834"^^xsd:string, "DOID:1945"^^xsd:string, "DOID:2486"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:712.1"^^xsd:string, "NCI:C34955"^^xsd:string, "OMIM:118600"^^xsd:string, "OMIM:118610"^^xsd:string, "OMIM:600668"^^xsd:string, "ORDO:1416"^^xsd:string, "SNOMEDCT_US_2021_03_01:201624004"^^xsd:string, "SNOMEDCT_US_2021_03_01:201625003"^^xsd:string, "UMLS_CUI:C0033802"^^xsd:string, "UMLS_CUI:C0157852"^^xsd:string ; oboInOwl:hasExactSynonym "calcium pyrophosphate deposition disease"@en, "pseudogout"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1156"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "chondrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019169 ] . obo:DOID_11561 oboInOwl:hasDbXref "ICD10CM:H35.03"^^xsd:string, "ICD9CM:362.11"^^xsd:string, "MESH:D058437"^^xsd:string, "NCI:C3514"^^xsd:string, "SNOMEDCT_US_2021_03_01:422001004"^^xsd:string, "UMLS_CUI:C0152132"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11561"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypertensive retinopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_5679 . obo:DOID_11563 obo:IAO_0000115 "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.06"^^xsd:string, "ICD9CM:362.18"^^xsd:string, "MESH:D031300"^^xsd:string, "SNOMEDCT_US_2021_03_01:77628002"^^xsd:string, "UMLS_CUI:C0152026"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal vasculitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11563"^^xsd:string ; a owl:Class ; rdfs:label "retinal vasculitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2462, obo:DOID_865, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_865 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] ) ] . obo:DOID_11569 obo:IAO_0000115 "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:306.2"^^xsd:string, "MESH:D009449"^^xsd:string, "SNOMEDCT_US_2021_03_01:46219009"^^xsd:string, "UMLS_CUI:C0027821"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiovascular malfunction arising from mental factors"@en, "Cardiovascular neurosis"@en, "Da Costa's syndrome"@en, "Krishaber's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11569"^^xsd:string ; a owl:Class ; rdfs:label "neurocirculatory asthenia"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_11572 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D008584"^^xsd:string, "SNOMEDCT_US_2021_03_01:230151007"^^xsd:string, "UMLS_CUI:C0025293"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11572"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Listeria meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_11573 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A32"^^xsd:string, "ICD9CM:027.0"^^xsd:string, "MESH:D008088"^^xsd:string, "NCI:C82994"^^xsd:string, "SNOMEDCT_US_2021_03_01:186315001"^^xsd:string, "UMLS_CUI:C0023860"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Listeria monocytogenes"@en, "Listeria infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "listeriosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_1637 obo:NCBITaxon_1639 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000006 obo:TRANS_0000012 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_11574 obo:IAO_0000115 "A bacterial meningitis that has_material_basis_in streptococcal bacteria."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G00.2"^^xsd:string, "ICD9CM:320.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:4510004"^^xsd:string, "UMLS_CUI:C0154639"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11574"^^xsd:string ; a owl:Class ; rdfs:label "streptococcal meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9470 . obo:DOID_11575 oboInOwl:hasExactSynonym "Pneumococcal meningitis"@en, "Pneumococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11575"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete pneumococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11577 obo:IAO_0000115 "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord."^^xsd:string ; oboInOwl:hasDbXref "GARD:10987"^^xsd:string, "ICD10CM:G83.4"^^xsd:string, "ICD9CM:344.6"^^xsd:string, "MESH:D000077684"^^xsd:string, "NCI:C35436"^^xsd:string, "SNOMEDCT_US_2021_03_01:89356000"^^xsd:string, "UMLS_CUI:C0392548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Cauda equina syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_225, obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_225 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012337 ] ) ] . obo:DOID_11578 oboInOwl:hasExactSynonym "Escherichia coli meningitis (disorder)"@en, "Meningitis due to E. coli"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11578"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11581 oboInOwl:hasDbXref "ICD10CM:H16.25"^^xsd:string, "ICD9CM:370.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:193773009"^^xsd:string, "UMLS_CUI:C0155080"^^xsd:string ; oboInOwl:hasExactSynonym "Phlyctenular keratoconjunctivitis"@en, "Strumous ophthalmia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11581"^^xsd:string ; a owl:Class ; rdfs:label "phlyctenulosis"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_11582 oboInOwl:hasExactSynonym "Syphilitic aortitis"@en, "Syphilitic aortitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11582"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic aortitis"^^xsd:string ; owl:deprecated true . obo:DOID_11584 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11584"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute schizophrenic episode in remission"^^xsd:string ; owl:deprecated true . obo:DOID_11589 oboInOwl:hasDbXref "ICD10CM:G90.1"^^xsd:string, "MESH:D004402"^^xsd:string, "NCI:C84706"^^xsd:string, "OMIM:223900"^^xsd:string, "SNOMEDCT_US_2021_03_01:204087006"^^xsd:string, "UMLS_CUI:C0013364"^^xsd:string ; oboInOwl:hasExactSynonym "HSAN III"@en, "familial autonomic nervous dysfunction"@en, "familial dysautonomia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11589"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Riley-Day syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050548 . obo:DOID_1159 oboInOwl:hasDbXref "ICD9CM:536.8"^^xsd:string, "UMLS_CUI:C0013396"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1159"^^xsd:string ; a owl:Class ; rdfs:label "functional gastric disease"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_11593 oboInOwl:hasDbXref "ICD10CM:C67.2"^^xsd:string, "ICD9CM:188.2"^^xsd:string, "NCI:C12333"^^xsd:string, "SNOMEDCT_US_2021_03_01:93863000"^^xsd:string, "UMLS_CUI:C0496828"^^xsd:string ; oboInOwl:hasExactSynonym "Lateral Wall of bladder"@en, "malignant neoplasm of lateral wall of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11593"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder lateral wall cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11594 oboInOwl:hasDbXref "ICD10CM:H15.85"^^xsd:string, "ICD9CM:379.15"^^xsd:string, "SNOMEDCT_US_2021_03_01:5299007"^^xsd:string, "UMLS_CUI:C0155363"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11594"^^xsd:string ; a owl:Class ; rdfs:label "ring staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_11595 . obo:DOID_11595 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:111534007"^^xsd:string, "UMLS_CUI:C0155359"^^xsd:string ; oboInOwl:hasExactSynonym "Scleral ectasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11595"^^xsd:string ; a owl:Class ; rdfs:label "scleral staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_11343 . obo:DOID_11597 oboInOwl:hasExactSynonym "Cold injury syndrome of newborn (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11597"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cold injury syndrome of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11599 oboInOwl:hasDbXref "GARD:6467"^^xsd:string, "MESH:D013547"^^xsd:string, "OMIM:144100"^^xsd:string, "SNOMEDCT_US_2021_03_01:56046002"^^xsd:string, "UMLS_CUI:C0038994"^^xsd:string ; oboInOwl:hasExactSynonym "Baillarger syndrome"@en, "gustatory hyperhidrosis"@en, "gustatory sweating"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11599"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Frey syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11465 . obo:DOID_116 oboInOwl:hasAlternativeId "DOID:5780"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C38.0"^^xsd:string, "NCI:C4567"^^xsd:string, "NCI:C4651"^^xsd:string, "SNOMEDCT_US_2021_03_01:126734005"^^xsd:string, "SNOMEDCT_US_2021_03_01:93957005"^^xsd:string, "UMLS_CUI:C0346609"^^xsd:string, "UMLS_CUI:C0349574"^^xsd:string ; oboInOwl:hasExactSynonym "Pericardial tumor"@en, "malignant neoplasm of pericardium"@en, "malignant tumor of Pericardium"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:116"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericardium cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050829, obo:DOID_117 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002407 ] ) ] . obo:DOID_11600 oboInOwl:hasExactSynonym "secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder)"@en, "secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder)"@en, "secondary and unspecified malignant neoplasm of lymph nodes of multiple sites"@en, "secondary malignant neoplasm of lymph nodes of multiple sites (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11600"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of lymph nodes of multiple site"^^xsd:string ; owl:deprecated true . obo:DOID_11603 obo:IAO_0000115 "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P83.4"^^xsd:string, "ICD9CM:778.7"^^xsd:string, "MESH:D006177"^^xsd:string, "NCI:C117312"^^xsd:string, "SNOMEDCT_US_2021_03_01:34831003"^^xsd:string, "UMLS_CUI:C1449721"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal gynaecomastia"@en, "breast engorgement in newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11603"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "infant gynecomastia"^^xsd:string ; rdfs:subClassOf obo:DOID_3463 . obo:DOID_11604 oboInOwl:hasExactSynonym "Hydrops fetalis not due to isoimmunization"@en, "Idiopathic hydrops fetalis (disorder)"@en, "Idiopathic hydrops fetalis (disorder) [Ambiguous]"@en, "Non-immune hydrops fetalis"@en, "Non-immune hydrops fetalis (disorder)"@en, "Perinatal skin prob. NOS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11604"^^xsd:string ; a owl:Class ; rdfs:label "obsolete idiopathic hydrops fetalis"^^xsd:string ; owl:deprecated true . obo:DOID_11606 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11606"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ileal disease"^^xsd:string ; owl:deprecated true . obo:DOID_11607 obo:IAO_0000115 "A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses."^^xsd:string ; oboInOwl:hasExactSynonym "Candida meningitis"@en, "Candidal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11607"^^xsd:string ; a owl:Class ; rdfs:label "obsolete candidal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_11608 obo:IAO_0000115 "A meningitis that has_material_basis_in a fungal infection."^^xsd:string ; oboInOwl:hasDbXref "MESH:D016921"^^xsd:string, "SNOMEDCT_US_2021_03_01:24321005"^^xsd:string, "UMLS_CUI:C0085438"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11608"^^xsd:string ; a owl:Class ; rdfs:label "fungal meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1564, obo:DOID_9471, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4751 ] . obo:DOID_11612 obo:IAO_0000115 "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight."^^xsd:string ; oboInOwl:hasDbXref "EFO:0000660"^^xsd:string, "ICD10CM:E28.2"^^xsd:string, "ICD9CM:256.4"^^xsd:string, "MESH:D011085"^^xsd:string, "NCI:C26862"^^xsd:string, "OMIM:184700"^^xsd:string, "SNOMEDCT_US_2021_03_01:69878008"^^xsd:string, "UMLS_CUI:C0032460"^^xsd:string ; oboInOwl:hasExactSynonym "Multicystic ovaries"@en, "PCOS"@en, "Polycystic Ovarian disease"@en, "Polycystic ovaries"@en, "Polycystic ovary syndrome"@en, "Stein-Leventhal synd."@en, "Stein-Leventhal syndrome"@en, "polycystic ovary"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11612"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "polycystic ovary syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1414 . obo:DOID_11613 oboInOwl:hasDbXref "MESH:D017588"^^xsd:string, "SNOMEDCT_US_2021_03_01:237793004"^^xsd:string, "UMLS_CUI:C0206081"^^xsd:string ; oboInOwl:hasExactSynonym "hyperandrogenization syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11613"^^xsd:string ; a owl:Class ; rdfs:label "hyperandrogenism"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_11615 oboInOwl:hasAlternativeId "DOID:11614"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C60"^^xsd:string, "ICD10CM:C60.2"^^xsd:string, "ICD9CM:187.3"^^xsd:string, "ICD9CM:187.4"^^xsd:string, "MESH:D010412"^^xsd:string, "NCI:C7547"^^xsd:string, "SNOMEDCT_US_2021_03_01:93716006"^^xsd:string, "SNOMEDCT_US_2021_03_01:93954003"^^xsd:string, "UMLS_CUI:C0153600"^^xsd:string, "UMLS_CUI:C0153601"^^xsd:string ; oboInOwl:hasExactSynonym "Ca penis"@en, "Penile Ca"@en, "malignant Penile tumor"@en, "malignant neoplasm of body of penis"@en, "penile neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11615"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "penile cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1529, obo:DOID_3856 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] ) ] . obo:DOID_11623 oboInOwl:hasDbXref "ICD10CM:K04.1"^^xsd:string, "ICD9CM:522.1"^^xsd:string, "MESH:D003790"^^xsd:string, "SNOMEDCT_US_2021_03_01:196332000"^^xsd:string, "UMLS_CUI:C0011407"^^xsd:string ; oboInOwl:hasExactSynonym "necrosis of the pulp"@en, "necrotic pulp"@en, "pulp necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11623"^^xsd:string ; a owl:Class ; rdfs:label "dental pulp necrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5330 . obo:DOID_11624 oboInOwl:hasDbXref "MESH:D010412"^^xsd:string, "NCI:C3317"^^xsd:string, "SNOMEDCT_US_2021_03_01:126896003"^^xsd:string, "UMLS_CUI:C0030849"^^xsd:string ; oboInOwl:hasExactSynonym "Penile tumor"@en, "neoplasm of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11624"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penile benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_0060087, obo:DOID_1529 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000989 ] ) ] . obo:DOID_11629 obo:IAO_0000115 "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.84"^^xsd:string, "ICD9CM:618.83"^^xsd:string, "UMLS_CUI:C1456255"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11629"^^xsd:string ; a owl:Class ; rdfs:label "pelvic muscle wasting"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_11633 oboInOwl:hasDbXref "MESH:D018382"^^xsd:string, "NCI:C85191"^^xsd:string, "OMIM:188570"^^xsd:string, "OMIM:274300"^^xsd:string, "SNOMEDCT_US_2021_03_01:50375007"^^xsd:string, "UMLS_CUI:C2940786"^^xsd:string ; oboInOwl:hasExactSynonym "Generalized thyroid hormone resistance"@en, "Refetoff syndrome"@en, "Thyroid hormone resistance syndrome"@en, "Thyroid hormone responsiveness defect"@en, "thyroid hormone resistance"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11633"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thyroid hormone resistance syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_11634 oboInOwl:hasDbXref "ICD10CM:E03.9"^^xsd:string, "MESH:D009230"^^xsd:string, "NCI:C34834"^^xsd:string, "OMIM:255900"^^xsd:string, "SNOMEDCT_US_2021_03_01:190274003"^^xsd:string, "UMLS_CUI:C0027145"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11634"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myxedema"^^xsd:string ; rdfs:subClassOf obo:DOID_1459 . obo:DOID_11637 oboInOwl:hasDbXref "ICD10CM:H52.53"^^xsd:string, "ICD9CM:367.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:30069002"^^xsd:string, "UMLS_CUI:C0152196"^^xsd:string ; oboInOwl:hasExactSynonym "Spasm of accommodation"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11637"^^xsd:string ; a owl:Class ; rdfs:label "accommodative spasm"^^xsd:string ; rdfs:subClassOf obo:DOID_10034 . obo:DOID_11638 oboInOwl:hasDbXref "ICD10CM:H52.4"^^xsd:string, "ICD9CM:367.4"^^xsd:string, "MESH:D011305"^^xsd:string, "SNOMEDCT_US_2021_03_01:155135005"^^xsd:string, "UMLS_CUI:C0033075"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11638"^^xsd:string ; a owl:Class ; rdfs:label "presbyopia"^^xsd:string ; rdfs:subClassOf obo:DOID_10034 . obo:DOID_11649 oboInOwl:hasExactSynonym "Idiopathic tachypnea of newborn"@en, "Transitory tachypnea of newborn (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11649"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transitory tachypnea of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_11650 oboInOwl:hasAlternativeId "DOID:11651"^^xsd:string ; oboInOwl:hasExactSynonym "Bronchopulmonary dysplasia of newborn (disorder)"@en, "Perinatal bronchopulmonary dysplasia"@en, "neonatal chronic respiratory disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11650"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bronchopulmonary dysplasia"^^xsd:string ; owl:deprecated true . obo:DOID_11653 oboInOwl:hasDbXref "ICD10CM:H11.11"^^xsd:string, "ICD9CM:372.56"^^xsd:string, "SNOMEDCT_US_2021_03_01:62660000"^^xsd:string, "UMLS_CUI:C0162280"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11653"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival deposit"^^xsd:string ; rdfs:subClassOf obo:DOID_4251 . obo:DOID_11654 oboInOwl:hasExactSynonym "Naevus fuscocerulophthalmomaxillaris"@en, "Naevus fusoceruleus ophthalmomaxillaris"@en, "Oculocutaneous melanocytic nevus"@en, "Oculodermal malanocytosis"@en, "nevus of Ota (disorder)"@en, "primary acquired melanosis"@en, "primary acquired melanosis of conjunctiva (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11654"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nevus of ota"^^xsd:string ; owl:deprecated true . obo:DOID_11656 obo:IAO_0000115 "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11655"^^xsd:string ; oboInOwl:hasDbXref "GARD:5913"^^xsd:string, "ICD10CM:L12.1"^^xsd:string, "ICD9CM:694.6"^^xsd:string, "ICD9CM:694.61"^^xsd:string, "MESH:D010390"^^xsd:string, "NCI:C34907"^^xsd:string, "OMIM:164185"^^xsd:string, "SNOMEDCT_US_2021_03_01:34250006"^^xsd:string, "SNOMEDCT_US_2021_03_01:76092003"^^xsd:string, "UMLS_CUI:C0030804"^^xsd:string, "UMLS_CUI:C0157721"^^xsd:string ; oboInOwl:hasExactSynonym "Cicatricial pemphigoid with ocular involvement"@en, "Ocular pemphigoid"@en, "benign mucous membrane pemphigoid"@en, "benign mucous membrane pemphigoid with ocular involvement"@en, "ocular pemphigus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11656"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cicatricial pemphigoid"^^xsd:string ; rdfs:subClassOf obo:DOID_0080841 . obo:DOID_1166 obo:IAO_0000115 "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1165"^^xsd:string, "DOID:1177"^^xsd:string, "DOID:1178"^^xsd:string, "DOID:1179"^^xsd:string, "DOID:12951"^^xsd:string, "DOID:13354"^^xsd:string, "DOID:13355"^^xsd:string, "DOID:13771"^^xsd:string ; oboInOwl:hasDbXref "GARD:7304"^^xsd:string, "ICD10CM:M12.3"^^xsd:string, "ICD9CM:719.3"^^xsd:string, "ICD9CM:719.31"^^xsd:string, "MESH:C538103"^^xsd:string, "SNOMEDCT_US_2021_03_01:202455001"^^xsd:string, "SNOMEDCT_US_2021_03_01:202457009"^^xsd:string, "UMLS_CUI:C0085574"^^xsd:string, "UMLS_CUI:C0158178"^^xsd:string ; oboInOwl:hasExactSynonym "Hench's syndrome"@en, "Hench-Rosenberg syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1166"^^xsd:string ; a owl:Class ; rdfs:label "palindromic rheumatism"^^xsd:string ; rdfs:subClassOf obo:DOID_848, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019169 ] . obo:DOID_11661 obo:IAO_0000115 "A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.55"^^xsd:string, "ICD9CM:368.53"^^xsd:string, "MESH:D003117"^^xsd:string, "OMIM:190900"^^xsd:string, "SNOMEDCT_US_2021_03_01:51886007"^^xsd:string, "UMLS_CUI:C0155017"^^xsd:string ; oboInOwl:hasExactSynonym "Tritan defect"@en, "Tritanopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11661"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "blue color blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_13399, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_11662 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11662"^^xsd:string ; a owl:Class ; rdfs:label "obsolete color vision defect"^^xsd:string ; owl:deprecated true . obo:DOID_11664 oboInOwl:hasDbXref "GARD:7179"^^xsd:string, "ICD10CM:I12"^^xsd:string, "ICD9CM:587"^^xsd:string, "MESH:D009400"^^xsd:string, "SNOMEDCT_US_2021_03_01:194773000"^^xsd:string, "UMLS_CUI:C0027719"^^xsd:string ; oboInOwl:hasExactSynonym "renal sclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11664"^^xsd:string ; a owl:Class ; rdfs:label "nephrosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1073 . obo:DOID_11665 oboInOwl:hasDbXref "ICD10CM:Q91.7"^^xsd:string, "ICD9CM:758.1"^^xsd:string, "MESH:D000073839"^^xsd:string, "NCI:C101223"^^xsd:string, "SNOMEDCT_US_2021_03_01:21111006"^^xsd:string, "UMLS_CUI:C0152095"^^xsd:string ; oboInOwl:hasExactSynonym "D1 Trisomy"@en, "trisomy 13"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Patau's syndrome"@en ; oboInOwl:id "DOID:11665"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Patau syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014 . obo:DOID_11668 obo:IAO_0000115 "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H02.73"^^xsd:string, "ICD9CM:374.53"^^xsd:string, "SNOMEDCT_US_2021_03_01:193958004"^^xsd:string, "UMLS_CUI:C0155212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11668"^^xsd:string ; a owl:Class ; rdfs:label "hypopigmentation of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_10123, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_11669 oboInOwl:hasDbXref "ICD10CM:H02.86"^^xsd:string, "ICD9CM:374.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:79830009"^^xsd:string, "UMLS_CUI:C0155213"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11669"^^xsd:string ; a owl:Class ; rdfs:label "hypertrichosis of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_420, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_11671 oboInOwl:hasDbXref "ICD10CM:H02.72"^^xsd:string, "ICD9CM:374.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:193959007"^^xsd:string, "UMLS_CUI:C0155214"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11671"^^xsd:string ; a owl:Class ; rdfs:label "hypotrichosis of eyelid"^^xsd:string ; rdfs:subClassOf obo:DOID_4535, obo:DOID_530, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001711 ] . obo:DOID_11678 obo:IAO_0000115 "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy."^^xsd:string ; oboInOwl:hasDbXref "GARD:7252"^^xsd:string, "ICD10CM:B73"^^xsd:string, "ICD9CM:125.3"^^xsd:string, "MESH:D009855"^^xsd:string, "NCI:C34861"^^xsd:string, "SNOMEDCT_US_2021_03_01:38539003"^^xsd:string, "UMLS_CUI:C0029001"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Onchocerca volvulus"@en, "Onchocerca volvulus infection"@en, "volvulosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "onchocerciasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_6282 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000008 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000289 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000432 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000521 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019142 ] . obo:DOID_1168 oboInOwl:hasAlternativeId "DOID:3147"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E78.5"^^xsd:string, "MESH:D006949"^^xsd:string, "MESH:D006951"^^xsd:string, "NCI:C34707"^^xsd:string, "NCI:C34709"^^xsd:string, "SNOMEDCT_US_2021_03_01:154739000"^^xsd:string, "SNOMEDCT_US_2021_03_01:3744001"^^xsd:string, "UMLS_CUI:C0020473"^^xsd:string, "UMLS_CUI:C0020476"^^xsd:string ; oboInOwl:hasExactSynonym "familial hyperlipoproteinemia"@en, "hyperlipemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hyperlipidaemia"@en ; oboInOwl:id "DOID:1168"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "familial hyperlipidemia"^^xsd:string ; rdfs:subClassOf obo:DOID_3146 . obo:DOID_11680 obo:IAO_0000115 "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness."^^xsd:string ; oboInOwl:hasExactSynonym "Ocular Onchocerciasis"@en, "Ocular onchocerciasis (disorder)"@en, "river blindness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11680"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ocular onchocerciasis"^^xsd:string ; owl:deprecated true . obo:DOID_11683 oboInOwl:hasExactSynonym "Glaucoma associated with systemic syndromes (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11683"^^xsd:string ; a owl:Class ; rdfs:label "obsolete glaucoma associated with systemic syndromes"^^xsd:string ; owl:deprecated true . obo:DOID_11684 oboInOwl:hasDbXref "NCI:C27548"^^xsd:string, "SNOMEDCT_US_2021_03_01:201096007"^^xsd:string, "UMLS_CUI:C1321683"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11684"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "melanoacanthoma"^^xsd:string ; rdfs:subClassOf obo:DOID_6498 . obo:DOID_11685 oboInOwl:hasDbXref "ICD10CM:L82.0"^^xsd:string, "ICD9CM:702.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:442348004"^^xsd:string, "UMLS_CUI:C0376117"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11685"^^xsd:string ; a owl:Class ; rdfs:label "inflamed seborrheic keratosis"^^xsd:string ; rdfs:subClassOf obo:DOID_6498 . obo:DOID_11693 oboInOwl:hasDbXref "ICD10CM:K04.4"^^xsd:string, "ICD9CM:522.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:88071000"^^xsd:string, "UMLS_CUI:C0155934"^^xsd:string ; oboInOwl:hasExactSynonym "acute apical periodontitis of pulpal origin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11693"^^xsd:string ; a owl:Class ; rdfs:label "acute apical periodontitis"^^xsd:string ; rdfs:subClassOf obo:DOID_823 . obo:DOID_11695 obo:IAO_0000115 "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I81"^^xsd:string, "ICD9CM:452"^^xsd:string, "NCI:C78565"^^xsd:string, "SNOMEDCT_US_2021_03_01:155455003"^^xsd:string, "UMLS_CUI:C0155773"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11695"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "portal vein thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060903, obo:DOID_272, obo:DOID_866, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001638 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060903 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002017 ] ) ] . obo:DOID_11696 oboInOwl:hasExactSynonym "chronic hypomanic personality disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11696"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic hypomanic disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11699 obo:IAO_0000115 "A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe."^^xsd:string ; oboInOwl:hasExactSynonym "Tuberculosis of intrathoracic lymph nodes (disorder)"@en, "Tuberculosis of intrathoracic lymph nodes NOS (disorder)"@en, "Tuberculosis of intrathoracic lymph nodes, unspecified examination"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11699"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete intrathoracic lymph node tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_117 obo:IAO_0000115 "A cardiovascular cancer located_in the heart."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9918"^^xsd:string ; oboInOwl:hasDbXref "GARD:2619"^^xsd:string, "ICD10CM:C38.0"^^xsd:string, "ICD9CM:164.1"^^xsd:string, "MESH:D006338"^^xsd:string, "NCI:C3081"^^xsd:string, "NCI:C3548"^^xsd:string, "SNOMEDCT_US_2021_03_01:126730001"^^xsd:string, "SNOMEDCT_US_2021_03_01:93825008"^^xsd:string, "UMLS_CUI:C0018809"^^xsd:string, "UMLS_CUI:C0153500"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiac tumor"@en, "Tumour of heart"@en, "malignant Cardiac tumor"@en, "malignant neoplasm of heart"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:117"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "heart cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_114, obo:DOID_176 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000948 ] ) ] . obo:DOID_11701 obo:IAO_0000115 "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract."^^xsd:string ; oboInOwl:hasDbXref "MESH:D017098"^^xsd:string, "SNOMEDCT_US_2021_03_01:29260007"^^xsd:string, "UMLS_CUI:C0162538"^^xsd:string ; oboInOwl:hasExactSynonym "Immunoglobulin A deficiency"@en, "Selective IgA Immunodeficiency"@en, "Selective IgA immunodeficiency"@en, "Selective immunoglobulin A deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11701"^^xsd:string ; a owl:Class ; rdfs:label "selective IgA deficiency disease"^^xsd:string ; rdfs:subClassOf obo:DOID_11702 . obo:DOID_11702 obo:IAO_0000115 "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins."^^xsd:string ; oboInOwl:hasDbXref "MESH:D004406"^^xsd:string, "SNOMEDCT_US_2021_03_01:127389001"^^xsd:string, "UMLS_CUI:C0013374"^^xsd:string ; oboInOwl:hasExactSynonym "Dysgammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11702"^^xsd:string ; a owl:Class ; rdfs:label "dysgammaglobulinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_6025 ; skos:exactMatch "MESH:D004406"^^xsd:string . obo:DOID_11705 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11705"^^xsd:string ; a owl:Class ; rdfs:label "obsolete impaired renal function disease"^^xsd:string ; owl:deprecated true . obo:DOID_1171 oboInOwl:hasDbXref "MESH:D006954"^^xsd:string, "NCI:C35645"^^xsd:string, "OMIM:144650"^^xsd:string, "SNOMEDCT_US_2021_03_01:34349009"^^xsd:string, "UMLS_CUI:C0020481"^^xsd:string ; oboInOwl:hasExactSynonym "Fredrickson type V lipaemia"@en, "familial hyperlipoproteinemia type V"@en, "familial type 5 hyperlipoproteinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1171"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperlipoproteinemia type V"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_11711 oboInOwl:hasExactSynonym "Diabetes in Pregnancy"@en, "Diabetes mellitus, antepartum"@en, "pregnancy diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11711"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pregnancy in Diabetics"^^xsd:string ; owl:deprecated true . obo:DOID_11712 obo:IAO_0000115 "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy."^^xsd:string ; oboInOwl:hasDbXref "MESH:D003923"^^xsd:string, "NCI:C34537"^^xsd:string, "OMIM:PS151660"^^xsd:string, "SNOMEDCT_US_2021_03_01:408543001"^^xsd:string, "UMLS_CUI:C0011859"^^xsd:string ; oboInOwl:hasExactSynonym "lipoatrophic diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11712"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lipoatrophic diabetes mellitus"^^xsd:string ; rdfs:subClassOf obo:DOID_9352 . obo:DOID_11713 obo:IAO_0000115 "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10182"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:250.7"^^xsd:string, "MESH:D003925"^^xsd:string, "NCI:C35610"^^xsd:string, "SNOMEDCT_US_2021_03_01:127014009"^^xsd:string, "UMLS_CUI:C0011871"^^xsd:string, "UMLS_CUI:C0011875"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetic vascular disorder"@en, "diabetic peripheral angiopathy"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11713"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "diabetic angiopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_341 . obo:DOID_11714 obo:IAO_0000115 "A diabetes mellitus that manifests during pregnancy."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004593"^^xsd:string, "ICD10CM:O24.4"^^xsd:string, "MESH:D016640"^^xsd:string, "NCI:C34942"^^xsd:string, "SNOMEDCT_US_2021_03_01:11687002"^^xsd:string, "UMLS_CUI:C0085207"^^xsd:string ; oboInOwl:hasExactSynonym "GDM"@en, "Gestational diabetes mellitus"@en, "Maternal gestational diabetes mellitus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11714"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gestational diabetes"^^xsd:string ; rdfs:subClassOf obo:DOID_9351 . obo:DOID_11716 obo:IAO_0000115 "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:R73.03"^^xsd:string, "MESH:D011236"^^xsd:string, "NCI:C122685"^^xsd:string, "SNOMEDCT_US_2021_03_01:15777000"^^xsd:string, "UMLS_CUI:C0362046"^^xsd:string ; oboInOwl:hasExactSynonym "Prediabetes"@en, "impaired glucose tolerance"^^xsd:string, "prediabetic state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11716"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prediabetes syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_4194 . obo:DOID_11717 obo:IAO_0000115 "A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P70.2"^^xsd:string, "ICD9CM:775.1"^^xsd:string, "NCI:C99248"^^xsd:string, "SNOMEDCT_US_2021_03_01:49817004"^^xsd:string, "UMLS_CUI:C0158981"^^xsd:string ; oboInOwl:hasExactSynonym "diabetes mellitus syndrome in newborn infant"@en, "neonatal diabetes mellitus"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11717"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal diabetes"^^xsd:string ; rdfs:subClassOf obo:DOID_9351 . obo:DOID_11718 obo:IAO_0000115 "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:305.8"^^xsd:string, "UMLS_CUI:C0154540"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11718"^^xsd:string ; a owl:Class ; rdfs:label "antidepressant type abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_11719 oboInOwl:hasDbXref "ICD10CM:G71.09"^^xsd:string, "MESH:D039141"^^xsd:string, "NCI:C84942"^^xsd:string, "OMIM:164300"^^xsd:string, "SNOMEDCT_US_2021_03_01:77097004"^^xsd:string, "UMLS_CUI:C0270952"^^xsd:string ; oboInOwl:hasExactSynonym "Muscular dystrophy, oculopharyngeal"@en, "Oculopharyngeal muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11719"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "oculopharyngeal muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_1172 oboInOwl:hasAlternativeId "DOID:0050527"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E78.1"^^xsd:string, "ICD9CM:272.1"^^xsd:string, "MESH:D006953"^^xsd:string, "NCI:C34711"^^xsd:string, "OMIM:144600"^^xsd:string, "OMIM:145750"^^xsd:string, "SNOMEDCT_US_2021_03_01:154741004"^^xsd:string, "UMLS_CUI:C0020480"^^xsd:string ; oboInOwl:hasExactSynonym "Endogenous hyperlipidaemia"@en, "Fredrickson type IV Lipidemia"@en, "Fredrickson type IV hyperlipoproteinemia"@en, "Fredrickson type IV lipidaemia"@en, "VLDL hyperlipoproteinemia"@en, "familial hypertriglyceridemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1172"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hyperlipoproteinemia type IV"^^xsd:string ; rdfs:subClassOf obo:DOID_1168 . obo:DOID_11720 obo:IAO_0000115 "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G71.09"^^xsd:string, "MESH:D049310"^^xsd:string, "NCI:C84675"^^xsd:string, "ORDO:399096"^^xsd:string, "ORDO:5448"^^xsd:string, "ORDO:59135"^^xsd:string, "SNOMEDCT_US_2021_03_01:58795000"^^xsd:string, "UMLS_CUI:C0751336"^^xsd:string ; oboInOwl:hasExactSynonym "Miyoshi muscular dystrophy"@en, "distal muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11720"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "distal myopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_11721 obo:IAO_0000115 "A glycogen storage disease that is characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGL gene, which encodes liver glycogen phosphorylase, on chromosome 14q22." ; oboInOwl:hasDbXref "ICD10CM:E74.09"^^xsd:string, "MESH:D006014"^^xsd:string, "NCI:C118437"^^xsd:string, "OMIM:232800"^^xsd:string, "SNOMEDCT_US_2021_03_01:89597008"^^xsd:string, "UMLS_CUI:C0017926"^^xsd:string ; oboInOwl:hasExactSynonym "Glycogen storage disease, type VII"@en, "Muscle phosphofructokinase deficiency"@en, "glycogen storage disease type VII"@en, "phosphofructokinase myopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11721"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "glycogen storage disease VII"^^xsd:string ; rdfs:subClassOf obo:DOID_2747 . obo:DOID_11722 obo:IAO_0000115 "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region."^^xsd:string ; oboInOwl:hasDbXref "GARD:8310"^^xsd:string, "ICD10CM:G71.11"^^xsd:string, "ICD9CM:359.21"^^xsd:string, "MESH:D009223"^^xsd:string, "NCI:C84914"^^xsd:string, "OMIM:160900"^^xsd:string, "SNOMEDCT_US_2021_03_01:77956009"^^xsd:string, "UMLS_CUI:C0027126"^^xsd:string ; oboInOwl:hasExactSynonym "Dystrophia myotonica"@en, "Steinert disease"@en, "congenital myotonic dystrophy"@en, "myotonic dystrophy of Steinert"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11722"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myotonic dystrophy type 1"^^xsd:string ; rdfs:subClassOf obo:DOID_450, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ] . obo:DOID_11723 obo:IAO_0000115 "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy."^^xsd:string ; oboInOwl:hasDbXref "GARD:6291"^^xsd:string, "MESH:D020388"^^xsd:string, "NCI:C75482"^^xsd:string, "OMIM:310200"^^xsd:string, "SNOMEDCT_US_2021_03_01:155095006"^^xsd:string, "UMLS_CUI:C0013264"^^xsd:string ; oboInOwl:hasExactSynonym "Muscular dystrophy, Duchenne"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11723"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Duchenne muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_9884, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_11724 obo:IAO_0000115 "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles."^^xsd:string ; oboInOwl:hasDbXref "GARD:6907"^^xsd:string, "ICD10CM:G71.09"^^xsd:string, "MESH:D049288"^^xsd:string, "NCI:C84828"^^xsd:string, "ORDO:263"^^xsd:string, "SNOMEDCT_US_2021_03_01:56096001"^^xsd:string, "UMLS_CUI:C0686353"^^xsd:string ; oboInOwl:hasExactSynonym "Erb's muscular dystrophy"@en, "Leyden-Mbius muscular dystrophy"@en, "limb girdle muscular dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11724"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "limb-girdle muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_11725 obo:IAO_0000115 "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features."^^xsd:string ; oboInOwl:hasDbXref "GARD:10109"^^xsd:string, "ICD10CM:Q87.19"^^xsd:string, "MESH:D003635"^^xsd:string, "NCI:C75016"^^xsd:string, "OMIM:PS122470"^^xsd:string, "ORDO:199"^^xsd:string, "SNOMEDCT_US_2021_03_01:40354009"^^xsd:string, "UMLS_CUI:C0270972"^^xsd:string ; oboInOwl:hasExactSynonym "Brachmann de Lange syndrome"@en, "De Lange syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11725"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Cornelia de Lange syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050177, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SO_0000704 ] . obo:DOID_11726 obo:IAO_0000115 "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle."^^xsd:string ; oboInOwl:hasDbXref "GARD:6329"^^xsd:string, "MESH:D020389"^^xsd:string, "NCI:C84685"^^xsd:string, "OMIM:PS310300"^^xsd:string, "ORDO:261"^^xsd:string, "SNOMEDCT_US_2021_03_01:129620000"^^xsd:string, "UMLS_CUI:C0410189"^^xsd:string ; oboInOwl:hasExactSynonym "EDMD"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11726"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Emery-Dreifuss muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_11727 oboInOwl:hasDbXref "GARD:9941"^^xsd:string, "ICD10CM:G71.02"^^xsd:string, "MESH:D020391"^^xsd:string, "NCI:C84704"^^xsd:string, "SNOMEDCT_US_2021_03_01:56096001"^^xsd:string, "UMLS_CUI:C0238288"^^xsd:string ; oboInOwl:hasExactSynonym "Landouzy Dejerine muscular dystrophy"@en, "Landouzy-Dejerine muscular dystrophy"@en, "Muscular dystrophy, Landouzy-Dejerine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11727"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "facioscapulohumeral muscular dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_9884 . obo:DOID_11729 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12233"^^xsd:string ; oboInOwl:hasDbXref "GARD:12073"^^xsd:string, "ICD10CM:A69.2"^^xsd:string, "ICD9CM:088.81"^^xsd:string, "MESH:D008193"^^xsd:string, "MESH:D020852"^^xsd:string, "NCI:C45161"^^xsd:string, "SNOMEDCT_US_2021_03_01:154376000"^^xsd:string, "SNOMEDCT_US_2021_03_01:715507005"^^xsd:string, "UMLS_CUI:C0024198"^^xsd:string, "UMLS_CUI:C0752235"^^xsd:string ; oboInOwl:hasExactSynonym "Bannwarth syndrome"@en, "Bannworth's syndrome"@en, "Lyme borreliosis"@en, "Neurological Lyme disease"@en, "lyme neuroborreliosis"@en, "neuroborreliosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11729"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Lyme disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_139 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_6945 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000024 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_29930 obo:NCBITaxon_6945 ) ] ] . obo:DOID_11730 oboInOwl:hasExactSynonym "Borreliosis (disorder)"@en, "Borreliosis, NOS"@en, "borreliosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11730"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Borrelia infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11732 oboInOwl:hasExactSynonym "Syphilitic myocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11732"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic myocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_11733 oboInOwl:hasExactSynonym "Aneurysm of aorta, specified as syphilitic"@en, "Syphilitic aneurysm of aorta (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11733"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic aortic aneurysm"^^xsd:string ; owl:deprecated true . obo:DOID_11734 oboInOwl:hasExactSynonym "Syphilitic pericarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11734"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete syphilitic pericarditis"^^xsd:string ; owl:deprecated true . obo:DOID_11735 oboInOwl:hasExactSynonym "Manic disorder, single episode, in full remission"@en, "Single manic episode in full remission (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11735"^^xsd:string ; a owl:Class ; rdfs:label "obsolete single manic episode in full remission"^^xsd:string ; owl:deprecated true . obo:DOID_11736 oboInOwl:hasDbXref "ICD9CM:521.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:196305005"^^xsd:string, "UMLS_CUI:C0341004"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11736"^^xsd:string ; a owl:Class ; rdfs:label "odontoclasia"^^xsd:string ; rdfs:subClassOf obo:DOID_216 . obo:DOID_11741 obo:IAO_0000115 "A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress."^^xsd:string ; oboInOwl:hasExactSynonym "Chlamydial pneumonia (disorder)"@en, "Pneumonia due to Chlamydia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11741"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydophila pneumoniae pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_11746 obo:IAO_0000115 "A uterine adnexa cancer that is located_in the parametrium."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.3"^^xsd:string, "ICD9CM:183.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:93942003"^^xsd:string, "UMLS_CUI:C0153581"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11746"^^xsd:string ; a owl:Class ; rdfs:label "parametrium malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_11747 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0010391 ] ) ] . obo:DOID_11747 obo:IAO_0000115 "A uterine cancer that is located_in the adnexa."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9596"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.4"^^xsd:string, "ICD9CM:183"^^xsd:string, "ICD9CM:183.9"^^xsd:string, "SNOMEDCT_US_2021_03_01:188201008"^^xsd:string, "SNOMEDCT_US_2021_03_01:94126000"^^xsd:string, "UMLS_CUI:C0153577"^^xsd:string, "UMLS_CUI:C0153584"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11747"^^xsd:string ; a owl:Class ; rdfs:label "uterine adnexa cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_363 . obo:DOID_11748 obo:IAO_0000115 "A uterine adnexa cancer that is located_in the round ligament."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57.2"^^xsd:string, "ICD9CM:183.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:188204000"^^xsd:string, "UMLS_CUI:C0346867"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of round ligament"@en, "malignant neoplasm of round ligament of uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11748"^^xsd:string ; a owl:Class ; rdfs:label "round ligament malignant neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_11747 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006589 ] ) ] . obo:DOID_11750 obo:IAO_0000115 "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose ."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A37.1"^^xsd:string, "ICD9CM:033.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:77116006"^^xsd:string, "UMLS_CUI:C0275742"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11750"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "Bordetella parapertussis whooping cough"^^xsd:string ; rdfs:subClassOf obo:DOID_1116, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_11752 oboInOwl:hasDbXref "ICD9CM:360.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:193268004"^^xsd:string, "UMLS_CUI:C0154773"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11752"^^xsd:string ; a owl:Class ; rdfs:label "acute endophthalmitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9724 . obo:DOID_11753 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11753"^^xsd:string ; a owl:Class ; rdfs:label "obsolete biliary calculus with acute cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11754 obo:IAO_0000115 "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44.32"^^xsd:string, "ICD9CM:360.23"^^xsd:string, "SNOMEDCT_US_2021_03_01:25277000"^^xsd:string, "UMLS_CUI:C0271001"^^xsd:string ; oboInOwl:hasExactSynonym "Siderosis of globe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11754"^^xsd:string ; a owl:Class ; rdfs:label "siderosis of eye"^^xsd:string ; rdfs:subClassOf obo:DOID_9799 . obo:DOID_11755 oboInOwl:hasDbXref "MESH:D042883"^^xsd:string, "SNOMEDCT_US_2021_03_01:197397004"^^xsd:string, "UMLS_CUI:C0701818"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11755"^^xsd:string ; a owl:Class ; rdfs:label "choledocholithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4137 . obo:DOID_11756 oboInOwl:hasAlternativeId "DOID:13666"^^xsd:string ; oboInOwl:hasExactSynonym "bile duct calculus with acute cholecystitis and obstruction"@en, "bile duct calculus with acute cholecystitis and obstruction (disorder)"@en, "bile duct calculus with acute cholecystitis and obstruction NOS (disorder)"@en, "calculus of bile duct with acute cholecystitis with obstruction (disorder)"@en, "calculus of bile duct with acute cholecystitis, with obstruction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11756"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of bile duct with acute cholecystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11758 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:280.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:191129007"^^xsd:string, "UMLS_CUI:C0029810"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11758"^^xsd:string ; a owl:Class ; rdfs:label "iron deficiency anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_11759 oboInOwl:hasDbXref "ICD10CM:D50"^^xsd:string, "MESH:D000747"^^xsd:string, "NCI:C34380"^^xsd:string, "SNOMEDCT_US_2021_03_01:44452003"^^xsd:string, "UMLS_CUI:C0002884"^^xsd:string ; oboInOwl:hasExactSynonym "ANEMIA HYPOCHROMIC"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypochromic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_1176 obo:IAO_0000115 "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1175"^^xsd:string, "DOID:12322"^^xsd:string ; oboInOwl:hasDbXref "MESH:D001982"^^xsd:string, "SNOMEDCT_US_2021_03_01:41427001"^^xsd:string, "UMLS_CUI:C0006261"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1176"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim ; a owl:Class ; rdfs:label "bronchial disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050161 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002185 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002186 ] ) ] . obo:DOID_11760 obo:IAO_0000115 "An osteochondrosis that results_in death and collapse located_in navicular bone of foot."^^xsd:string ; oboInOwl:hasDbXref "GARD:6842"^^xsd:string, "ICD9CM:732.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:32491009"^^xsd:string, "UMLS_CUI:C0158444"^^xsd:string ; oboInOwl:hasExactSynonym "Juvenile osteochondrosis of foot"@en, "Kohler disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11760"^^xsd:string ; a owl:Class ; rdfs:label "Kohler's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8125 . obo:DOID_11766 oboInOwl:hasDbXref "ICD9CM:360.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:193291000"^^xsd:string, "UMLS_CUI:C0154788"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11766"^^xsd:string ; a owl:Class ; rdfs:label "blind hypotensive eye"^^xsd:string ; rdfs:subClassOf obo:DOID_790 . obo:DOID_11770 oboInOwl:hasExactSynonym "testicular hyperfunction"@en, "testicular hyperfunction (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11770"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypersecretion of testicular hormones"^^xsd:string ; owl:deprecated true . obo:DOID_11771 oboInOwl:hasDbXref "ICD10CM:H55.03"^^xsd:string, "ICD9CM:379.53"^^xsd:string, "MESH:D009759"^^xsd:string, "SNOMEDCT_US_2021_03_01:39771000"^^xsd:string, "UMLS_CUI:C0271384"^^xsd:string ; oboInOwl:hasExactSynonym "Ocular nystagmus"@en, "Searching eye movements"@en, "visual deprivation nystagmus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11771"^^xsd:string ; a owl:Class ; rdfs:label "spontaneous ocular nystagmus"^^xsd:string ; rdfs:subClassOf obo:DOID_9650 . obo:DOID_11772 oboInOwl:hasDbXref "ICD10CM:H44.53"^^xsd:string, "ICD9CM:360.44"^^xsd:string, "SNOMEDCT_US_2021_03_01:193288000"^^xsd:string, "UMLS_CUI:C0152458"^^xsd:string ; oboInOwl:hasExactSynonym "Leucocoria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11772"^^xsd:string ; a owl:Class ; rdfs:label "leukocoria"^^xsd:string ; rdfs:subClassOf obo:DOID_9799 . obo:DOID_11775 oboInOwl:hasExactSynonym "Hereditary edema of legs"@en, "Hereditary edema of legs NOS (disorder)"@en, "Hereditary edema of legs [dup] (disorder)"@en, "Hereditary trophedema (disorder)"@en, "Hereditary trophoedeme"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11775"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hereditary trophedema"^^xsd:string ; owl:deprecated true . obo:DOID_11776 obo:IAO_0000115 "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:360.42"^^xsd:string, "SNOMEDCT_US_2021_03_01:193286001"^^xsd:string, "UMLS_CUI:C0154789"^^xsd:string ; oboInOwl:hasExactSynonym "blind hypertensive eye"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11776"^^xsd:string ; a owl:Class ; rdfs:label "absolute glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_11781 oboInOwl:hasDbXref "ICD10CM:H52.22"^^xsd:string, "ICD9CM:367.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:68905002"^^xsd:string, "UMLS_CUI:C0152193"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11781"^^xsd:string ; a owl:Class ; rdfs:label "regular astigmatism"^^xsd:string ; rdfs:subClassOf obo:DOID_11782 . obo:DOID_11782 obo:IAO_0000115 "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004222"^^xsd:string, "ICD10CM:H52.2"^^xsd:string, "ICD9CM:367.2"^^xsd:string, "MESH:D001251"^^xsd:string, "OMIM:603047"^^xsd:string, "SNOMEDCT_US_2021_03_01:155134009"^^xsd:string, "UMLS_CUI:C0004106"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11782"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "astigmatism"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 . obo:DOID_11783 oboInOwl:hasDbXref "ICD9CM:385.24"^^xsd:string, "UMLS_CUI:C0155488"^^xsd:string ; oboInOwl:hasExactSynonym "partial loss or necrosis of ear ossicles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11783"^^xsd:string ; a owl:Class ; rdfs:label "necrosis of ear ossicle"^^xsd:string ; rdfs:subClassOf obo:DOID_2742 . obo:DOID_11786 oboInOwl:hasDbXref "ICD9CM:289.52"^^xsd:string, "UMLS_CUI:C1260402"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11786"^^xsd:string ; a owl:Class ; rdfs:label "splenic sequestration"^^xsd:string ; rdfs:subClassOf obo:DOID_2529 . obo:DOID_11787 oboInOwl:hasDbXref "ICD10CM:D73.2"^^xsd:string, "ICD9CM:289.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:191382009"^^xsd:string, "UMLS_CUI:C0398661"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11787"^^xsd:string ; a owl:Class ; rdfs:label "chronic congestive splenomegaly"^^xsd:string ; rdfs:subClassOf obo:DOID_2529 . obo:DOID_11793 oboInOwl:hasDbXref "ICD9CM:371.05"^^xsd:string, "SNOMEDCT_US_2021_03_01:193801004"^^xsd:string, "UMLS_CUI:C0155102"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11793"^^xsd:string ; a owl:Class ; rdfs:label "phthisical cornea"^^xsd:string ; rdfs:subClassOf obo:DOID_1237 . obo:DOID_11797 obo:IAO_0000115 "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J37.0"^^xsd:string, "ICD9CM:476.0"^^xsd:string, "NCI:C26975"^^xsd:string, "SNOMEDCT_US_2021_03_01:155535001"^^xsd:string, "UMLS_CUI:C0155836"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11797"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "chronic laryngitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3437 . obo:DOID_118 obo:IAO_0000115 "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity."^^xsd:string ; oboInOwl:hasDbXref "MESH:D010490"^^xsd:string, "NCI:C3319"^^xsd:string, "SNOMEDCT_US_2021_03_01:70370001"^^xsd:string, "UMLS_CUI:C0031039"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:118"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pericardial effusion"^^xsd:string ; rdfs:subClassOf obo:DOID_0050829 . obo:DOID_11801 obo:IAO_0000115 "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E46"^^xsd:string, "ICD9CM:263.9"^^xsd:string, "MESH:D011502"^^xsd:string, "NCI:C34952"^^xsd:string, "SNOMEDCT_US_2021_03_01:72608005"^^xsd:string, "UMLS_CUI:C0033677"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11801"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "protein-energy malnutrition"^^xsd:string ; rdfs:subClassOf obo:DOID_5113 . obo:DOID_11802 oboInOwl:hasExactSynonym "protein deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11802"^^xsd:string ; a owl:Class ; rdfs:label "obsolete protein deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_11806 oboInOwl:hasExactSynonym "Macrodactylia"@en, "Macrodactylia (fingers)"@en, "Macrodactylia of fingers (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11806"^^xsd:string ; a owl:Class ; rdfs:label "obsolete macrodactylia of fingers"^^xsd:string ; owl:deprecated true . obo:DOID_11809 oboInOwl:hasDbXref "ICD10CM:C67.5"^^xsd:string, "ICD9CM:188.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:188244007"^^xsd:string, "UMLS_CUI:C0153613"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of urinary bladder neck"@en, "malignant tumor of bladder neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11809"^^xsd:string ; a owl:Class ; rdfs:label "bladder neck cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001258 ] ) ] . obo:DOID_11810 oboInOwl:hasExactSynonym "metastatic tumor to the urinary bladder"@en, "secondary malignant neoplasm of bladder (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11810"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic neoplasm to the bladder"^^xsd:string ; owl:deprecated true . obo:DOID_11811 oboInOwl:hasDbXref "ICD10CM:C67.4"^^xsd:string, "ICD9CM:188.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:93972009"^^xsd:string, "UMLS_CUI:C0153612"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of posterior wall of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11811"^^xsd:string ; a owl:Class ; rdfs:label "urinary bladder posterior wall cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11812 obo:IAO_0000115 "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4669"^^xsd:string, "SNOMEDCT_US_2021_03_01:278046008"^^xsd:string, "UMLS_CUI:C0349666"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of bladder"@en, "sarcoma of the urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11812"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11054, obo:DOID_1115, [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] ) ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001255 ] . obo:DOID_11813 oboInOwl:hasDbXref "ICD10CM:C67.0"^^xsd:string, "ICD9CM:188.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:94109006"^^xsd:string, "UMLS_CUI:C0496826"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of trigone of urinary bladder"@en, "malignant tumor of trigone of bladder"@en, "malignant tumor of trigone of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11813"^^xsd:string ; a owl:Class ; rdfs:label "bladder trigone cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001257 ] ) ] . obo:DOID_11814 oboInOwl:hasDbXref "ICD10CM:C67.3"^^xsd:string, "ICD9CM:188.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:93675008"^^xsd:string, "UMLS_CUI:C0153611"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of anterior wall of urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11814"^^xsd:string ; a owl:Class ; rdfs:label "urinary bladder anterior wall cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11815 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11815"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant bladder neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_11816 oboInOwl:hasDbXref "ICD10CM:H43.81"^^xsd:string, "ICD9CM:379.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:60189009"^^xsd:string, "UMLS_CUI:C0155366"^^xsd:string ; oboInOwl:hasExactSynonym "Vitreous degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11816"^^xsd:string ; a owl:Class ; rdfs:label "vitreous syneresis"^^xsd:string ; rdfs:subClassOf obo:DOID_9720 . obo:DOID_11817 oboInOwl:hasDbXref "GARD:7836"^^xsd:string, "ICD10CM:C67.7"^^xsd:string, "ICD9CM:188.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:94120006"^^xsd:string, "UMLS_CUI:C0153615"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumor of urachus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11817"^^xsd:string ; a owl:Class ; rdfs:label "urachus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002068 ] ) ] . obo:DOID_11818 oboInOwl:hasDbXref "ICD10CM:C67.6"^^xsd:string, "ICD9CM:188.6"^^xsd:string, "NCI:C12337"^^xsd:string, "SNOMEDCT_US_2021_03_01:188245008"^^xsd:string, "UMLS_CUI:C0153614"^^xsd:string ; oboInOwl:hasExactSynonym "Orifice of the Ureter"@en, "malignant neoplasm of ureteric orifice of urinary bladder"@en, "malignant tumor of ureteric orifice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11818"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureteric orifice cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0012303 ] ) ] . obo:DOID_11819 obo:IAO_0000115 "A urinary system cancer that is located_in the ureter."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C66"^^xsd:string, "ICD9CM:189.2"^^xsd:string, "MESH:D014516"^^xsd:string, "NCI:C7543"^^xsd:string, "OMIM:191600"^^xsd:string, "SNOMEDCT_US_2021_03_01:94121005"^^xsd:string, "UMLS_CUI:C0153619"^^xsd:string ; oboInOwl:hasExactSynonym "malignant tumour of ureter"@en, "malignant ureteral tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11819"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ureter cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1426, obo:DOID_3996 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] ) ] . obo:DOID_11820 oboInOwl:hasDbXref "ICD10CM:C67.1"^^xsd:string, "ICD9CM:188.1"^^xsd:string, "NCI:C12332"^^xsd:string, "SNOMEDCT_US_2021_03_01:93678005"^^xsd:string, "UMLS_CUI:C0496827"^^xsd:string ; oboInOwl:hasExactSynonym "Superior Surface of bladder"@en, "malignant neoplasm of apex of urinary bladder"@en, "malignant neoplasm of dome of urinary bladder"@en, "malignant tumor of vault of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11820"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder dome cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11054 . obo:DOID_11821 oboInOwl:hasDbXref "NCI:C6164"^^xsd:string, "UMLS_CUI:C1332561"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of the urinary bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11821"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bladder lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_11054, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_11823 obo:IAO_0000115 "An acute kidney failure that is characterized by severe renal vasoconstriction."^^xsd:string ; oboInOwl:hasDbXref "GARD:6610"^^xsd:string, "ICD10CM:K76.7"^^xsd:string, "ICD9CM:572.4"^^xsd:string, "MESH:D006530"^^xsd:string, "NCI:C113400"^^xsd:string, "SNOMEDCT_US_2021_03_01:51292008"^^xsd:string, "UMLS_CUI:C0019212"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11823"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatorenal syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_3021 . obo:DOID_11824 obo:IAO_0000115 "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7103"^^xsd:string, "ICD10CM:E78.81"^^xsd:string, "NCI:C27896"^^xsd:string, "ORDO:139436"^^xsd:string, "SNOMEDCT_US_2021_03_01:84241008"^^xsd:string, "UMLS_CUI:C0311284"^^xsd:string ; oboInOwl:hasExactSynonym "Lipoid dermatoarthritis"@en, "Multicentric reticulohistiocytosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11824"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "multicentric reticulohistiocytosis"^^xsd:string ; rdfs:subClassOf obo:DOID_225 . obo:DOID_11828 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11828"^^xsd:string ; a owl:Class ; rdfs:label "obsolete visual cortex disorder due to vascular disorder"^^xsd:string ; owl:deprecated true . obo:DOID_11829 oboInOwl:hasDbXref "EFO:0004207"^^xsd:string, "ICD10CM:H44.2"^^xsd:string, "ICD9CM:360.21"^^xsd:string, "MESH:D047728"^^xsd:string, "NCI:C157149"^^xsd:string, "SNOMEDCT_US_2021_03_01:32022003"^^xsd:string, "UMLS_CUI:C0154778"^^xsd:string ; oboInOwl:hasExactSynonym "degenerative progressive high myopia"@en, "pathological myopia"@en, "progressive high (degenerative) myopia"@en, "progressive high myopia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11829"^^xsd:string ; a owl:Class ; rdfs:label "degenerative myopia"^^xsd:string ; rdfs:subClassOf obo:DOID_11830 . obo:DOID_1183 oboInOwl:hasExactSynonym "Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1183"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis"^^xsd:string ; owl:deprecated true . obo:DOID_11830 obo:IAO_0000115 "A refractive error characterized by the inability to see farther objects clearly."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003927"^^xsd:string, "ICD10CM:H52.1"^^xsd:string, "ICD9CM:367.1"^^xsd:string, "MESH:D009216"^^xsd:string, "NCI:C102533"^^xsd:string, "OMIM:160700"^^xsd:string, "OMIM:255500"^^xsd:string, "OMIM:300613"^^xsd:string, "OMIM:310460"^^xsd:string, "OMIM:603221"^^xsd:string, "OMIM:608367"^^xsd:string, "OMIM:608474"^^xsd:string, "OMIM:608908"^^xsd:string, "OMIM:609256"^^xsd:string, "OMIM:609257"^^xsd:string, "OMIM:609258"^^xsd:string, "OMIM:609259"^^xsd:string, "OMIM:609994"^^xsd:string, "OMIM:609995"^^xsd:string, "OMIM:610320"^^xsd:string, "OMIM:612554"^^xsd:string, "OMIM:612717"^^xsd:string, "OMIM:613959"^^xsd:string, "OMIM:613969"^^xsd:string, "OMIM:614166"^^xsd:string, "OMIM:614167"^^xsd:string, "OMIM:615420"^^xsd:string, "OMIM:615431"^^xsd:string, "OMIM:615946"^^xsd:string, "SNOMEDCT_US_2021_03_01:155133003"^^xsd:string, "UMLS_CUI:C0027092"^^xsd:string ; oboInOwl:hasExactSynonym "near vision"@en, "near-sightedness"@en, "short-sightedness"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11830"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "myopia"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 ; skos:exactMatch "MESH:D009216"^^xsd:string . obo:DOID_11831 oboInOwl:hasDbXref "ICD10CM:H47.61"^^xsd:string, "ICD9CM:377.75"^^xsd:string, "MESH:D019575"^^xsd:string, "NCI:C118707"^^xsd:string, "SNOMEDCT_US_2021_03_01:68574006"^^xsd:string, "UMLS_CUI:C0155320"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11831"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cortical blindness"^^xsd:string ; rdfs:subClassOf obo:DOID_5691 . obo:DOID_11832 oboInOwl:hasDbXref "MESH:D012640"^^xsd:string, "NCI:C3980"^^xsd:string, "SNOMEDCT_US_2021_03_01:39194005"^^xsd:string, "UMLS_CUI:C0270824"^^xsd:string ; oboInOwl:hasExactSynonym "epilepsy, visual"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11832"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "visual epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_1826 . obo:DOID_11836 obo:IAO_0000115 "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0001874"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q66.89"^^xsd:string, "ICD9CM:754.51"^^xsd:string, "MESH:D003025"^^xsd:string, "NCI:C84641"^^xsd:string, "OMIM:119800"^^xsd:string, "SNOMEDCT_US_2021_03_01:33163000"^^xsd:string, "UMLS_CUI:C0009081"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital equinovarus"@en, "Equinovarus deformity of foot"@en, "congenital clubfoot"@en, "congenital talipes equinovarus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11836"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "clubfoot"^^xsd:string ; rdfs:subClassOf obo:DOID_0080006, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_11837 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11837"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of scapula and long bones of upper limb"^^xsd:string ; owl:deprecated true . obo:DOID_11838 obo:IAO_0000115 "A sarcoma and malignant neoplasm of penis that is located_in the penis."^^xsd:string ; oboInOwl:hasDbXref "NCI:C7730"^^xsd:string, "UMLS_CUI:C0238352"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11838"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "penis sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_11615, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ] . obo:DOID_11839 oboInOwl:hasDbXref "ICD10CM:C60.1"^^xsd:string, "ICD9CM:187.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93813005"^^xsd:string, "UMLS_CUI:C0153599"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of glans penis"@en, "malignant tumor of glans penis"@en, "malignant tumour of glans penis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11839"^^xsd:string ; a owl:Class ; rdfs:label "glans penis cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_11615 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001299 ] ) ] . obo:DOID_1184 obo:IAO_0000115 "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N04"^^xsd:string, "ICD9CM:581"^^xsd:string, "MESH:D009404"^^xsd:string, "NCI:C34845"^^xsd:string, "SNOMEDCT_US_2021_03_01:155851004"^^xsd:string, "UMLS_CUI:C0027726"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1184"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "nephrotic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2527 . obo:DOID_11840 oboInOwl:hasDbXref "MESH:D003329"^^xsd:string, "NCI:C34515"^^xsd:string, "SNOMEDCT_US_2021_03_01:23687008"^^xsd:string, "UMLS_CUI:C0010073"^^xsd:string ; oboInOwl:hasExactSynonym "Coronary Vasospasm"@en, "Coronary artery spasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11840"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "coronary artery vasospasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_11843 oboInOwl:hasDbXref "GARD:1534"^^xsd:string, "ICD9CM:746.85"^^xsd:string, "SNOMEDCT_US_2021_03_01:28574005"^^xsd:string, "UMLS_CUI:C0158623"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital anomaly of coronary artery"@en, "Coronary artery abnormality"@en, "Coronary artery anomaly"@en, "Coronary artery anomaly, congenital"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11843"^^xsd:string ; a owl:Class ; rdfs:label "coronary artery anomaly"^^xsd:string ; rdfs:subClassOf obo:DOID_3393 . obo:DOID_11847 oboInOwl:hasDbXref "ICD10CM:I22"^^xsd:string, "MESH:D003328"^^xsd:string, "SNOMEDCT_US_2021_03_01:66514008"^^xsd:string, "UMLS_CUI:C0010072"^^xsd:string ; oboInOwl:hasExactSynonym "Coronary artery thrombosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11847"^^xsd:string ; a owl:Class ; rdfs:label "coronary thrombosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060903, obo:DOID_3393 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060903 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001621 ] ) ] . obo:DOID_11849 oboInOwl:hasExactSynonym "Ciliary body degenerative changes (disorder)"@en, "degenerative changes of ciliary body (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11849"^^xsd:string ; a owl:Class ; rdfs:label "obsolete degenerative changes of ciliary body"^^xsd:string ; owl:deprecated true . obo:DOID_11850 oboInOwl:hasDbXref "ICD9CM:367.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:81519008"^^xsd:string, "UMLS_CUI:C0155000"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11850"^^xsd:string ; a owl:Class ; rdfs:label "transient refractive change"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 . obo:DOID_11851 obo:IAO_0000115 "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A30.0"^^xsd:string, "ICD9CM:030.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:14386001"^^xsd:string, "UMLS_CUI:C0021192"^^xsd:string ; oboInOwl:hasExactSynonym "Indeterminate leprosy"@en, "Uncharacteristic leprosy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11851"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "indeterminate leprosy"^^xsd:string ; rdfs:subClassOf obo:DOID_1024, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000008 ] . obo:DOID_11852 oboInOwl:hasExactSynonym "Syphilitic endocarditis of aortic valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11852"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete aortic valve syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_11853 oboInOwl:hasDbXref "ICD10CM:H50.11"^^xsd:string, "ICD9CM:378.11"^^xsd:string, "MESH:D005099"^^xsd:string, "SNOMEDCT_US_2021_03_01:194087008"^^xsd:string, "UMLS_CUI:C0152206"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11853"^^xsd:string ; a owl:Class ; rdfs:label "monocular exotropia"^^xsd:string ; rdfs:subClassOf obo:DOID_1143 . obo:DOID_11854 oboInOwl:hasExactSynonym "Monocular exotropia with A pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11854"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular exotropia with A pattern"^^xsd:string ; owl:deprecated true . obo:DOID_11855 oboInOwl:hasExactSynonym "Intermittent exotropia, monocular"@en, "Intermittent monocular exotropia (disorder)"@en, "Monocular intermittent exotropia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11855"^^xsd:string ; a owl:Class ; rdfs:label "obsolete intermittent monocular exotropia"^^xsd:string ; owl:deprecated true . obo:DOID_11856 oboInOwl:hasExactSynonym "Monocular exotropia with V pattern (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11856"^^xsd:string ; a owl:Class ; rdfs:label "obsolete monocular exotropia with V pattern"^^xsd:string ; owl:deprecated true . obo:DOID_11861 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11861"^^xsd:string ; a owl:Class ; rdfs:label "obsolete prolonged pregnancy"^^xsd:string ; owl:deprecated true . obo:DOID_11862 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11862"^^xsd:string ; a owl:Class ; rdfs:label "obsolete late pregnancy"^^xsd:string ; owl:deprecated true . obo:DOID_11864 oboInOwl:hasDbXref "ICD9CM:363.04"^^xsd:string, "SNOMEDCT_US_2021_03_01:56787009"^^xsd:string, "UMLS_CUI:C0339394"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11864"^^xsd:string ; a owl:Class ; rdfs:label "peripheral focal chorioretinitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1979 . obo:DOID_11868 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11868"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic erythremia"^^xsd:string ; owl:deprecated true . obo:DOID_1187 oboInOwl:hasDbXref "MESH:D020429"^^xsd:string, "SNOMEDCT_US_2021_03_01:359842002"^^xsd:string, "UMLS_CUI:C0751932"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior tibial neuropathy"@en, "Tibial neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1187"^^xsd:string ; a owl:Class ; rdfs:label "tibial neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 . obo:DOID_11870 oboInOwl:hasDbXref "GARD:7392"^^xsd:string, "ICD10CM:G31.01"^^xsd:string, "ICD9CM:331.11"^^xsd:string, "MESH:D020774"^^xsd:string, "NCI:C85008"^^xsd:string, "OMIM:172700"^^xsd:string, "SNOMEDCT_US_2021_03_01:154998003"^^xsd:string, "UMLS_CUI:C0236642"^^xsd:string ; oboInOwl:hasExactSynonym "Dementia in Pick's disease"@en, "LOBAR ATROPHY OF BRAIN"@en, "PICK DISEASE OF BRAIN"@en, "Pick disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11870"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Pick's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 ; skos:exactMatch "MESH:D020774"^^xsd:string . obo:DOID_11871 oboInOwl:hasDbXref "ICD10CM:H16.11"^^xsd:string, "ICD9CM:370.22"^^xsd:string, "SNOMEDCT_US_2021_03_01:2853006"^^xsd:string, "UMLS_CUI:C0155076"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11871"^^xsd:string ; a owl:Class ; rdfs:label "macular keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_11872 oboInOwl:hasExactSynonym "Septicemia due to Staphylococcus aureus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11872"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Staphylococcus aureus septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11873 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11873"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_11874 oboInOwl:hasDbXref "ICD10CM:H53.61"^^xsd:string, "ICD9CM:368.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:50455002"^^xsd:string, "UMLS_CUI:C0155019"^^xsd:string ; oboInOwl:hasExactSynonym "abnormal dark adaptation curve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11874"^^xsd:string ; a owl:Class ; rdfs:label "abnormal threshold of rods"^^xsd:string ; rdfs:subClassOf obo:DOID_8499 . obo:DOID_11875 oboInOwl:hasDbXref "ICD10CM:K12.1"^^xsd:string, "MESH:D013282"^^xsd:string, "SNOMEDCT_US_2021_03_01:196576008"^^xsd:string, "UMLS_CUI:C0038364"^^xsd:string ; oboInOwl:hasExactSynonym "Denture sore mouth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11875"^^xsd:string ; a owl:Class ; rdfs:label "denture stomatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9637 . obo:DOID_1188 obo:IAO_0000115 "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G58.9"^^xsd:string, "MESH:D020422"^^xsd:string, "SNOMEDCT_US_2021_03_01:304595001"^^xsd:string, "UMLS_CUI:C0494491"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1188"^^xsd:string ; a owl:Class ; rdfs:label "mononeuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_11885 oboInOwl:hasDbXref "MESH:D014516"^^xsd:string, "NCI:C3427"^^xsd:string, "SNOMEDCT_US_2021_03_01:126882009"^^xsd:string, "UMLS_CUI:C0041955"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of ureter"@en, "ureteral tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11885"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureteral benign neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_1426, obo:DOID_731 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] ) ] . obo:DOID_11887 obo:IAO_0000115 "An ureteral benign neoplasm that derives_from smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6161"^^xsd:string, "UMLS_CUI:C1336875"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral leiomyoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11887"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ureter leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_11885, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] . obo:DOID_11888 oboInOwl:hasDbXref "NCI:C6162"^^xsd:string, "UMLS_CUI:C1336877"^^xsd:string ; oboInOwl:hasExactSynonym "ureteral schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11888"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "schwannoma of ureter"^^xsd:string ; rdfs:subClassOf obo:DOID_11885, obo:DOID_956 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3192 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000056 ] ) ] . obo:DOID_11889 obo:IAO_0000115 "A female breast cancer that is located_in the nipple and areola."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:174.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:188147009"^^xsd:string, "UMLS_CUI:C0024621"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of nipple and areola of female breast"@en, "malignant neoplasm of nipple or areola of female breast"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11889"^^xsd:string ; a owl:Class ; rdfs:label "female breast nipple and areola cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050671 . obo:DOID_11892 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "sarcodina"@en ; oboInOwl:id "DOID:11892"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Amoebozoa infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_11893 obo:IAO_0000115 "An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body."^^xsd:string ; oboInOwl:hasExactSynonym "Amebic skin ulceration"@en, "Amebic ulcer of skin (disorder)"@en, "Amoebic skin ulceration"@en, "amebic ulcer of skin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11893"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cutaneous amebiasis"^^xsd:string ; owl:deprecated true . obo:DOID_11896 obo:IAO_0000115 "A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye."^^xsd:string ; oboInOwl:hasExactSynonym "Acanthameba keratitis"@en, "Acanthamoeba keratitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11896"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Acanthamoeba keratitis"^^xsd:string ; owl:deprecated true . obo:DOID_11897 obo:IAO_0000115 "A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050248"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11897"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Blastocystis hominis infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_119 obo:IAO_0000115 "A female reproductive system cancer that is located_in the vagina."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1902"^^xsd:string ; oboInOwl:hasDbXref "GARD:9348"^^xsd:string, "ICD10CM:C52"^^xsd:string, "ICD9CM:184.0"^^xsd:string, "MESH:D014625"^^xsd:string, "NCI:C3437"^^xsd:string, "NCI:C7410"^^xsd:string, "SNOMEDCT_US_2021_03_01:126921000"^^xsd:string, "SNOMEDCT_US_2021_03_01:188210000"^^xsd:string, "UMLS_CUI:C0042237"^^xsd:string, "UMLS_CUI:C0042258"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of vagina"@en, "malignant tumor of vagina"@en, "malignant vaginal tumor"@en, "neoplasm of vagina"@en, "vagina neoplasm"@en, "vaginal tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "vaginal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120, obo:DOID_121 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] ) ] . obo:DOID_11902 obo:IAO_0000115 "An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses."^^xsd:string ; oboInOwl:hasExactSynonym "Amebic brain abscess"@en, "Amebic brain abscess (disorder)"@en, "amebic abscess of brain"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11902"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cerebral amebiasis"^^xsd:string ; owl:deprecated true . obo:DOID_11905 obo:IAO_0000115 "A vulva cancer that is located_in the labium majus."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C51.0"^^xsd:string, "ICD9CM:184.1"^^xsd:string, "NCI:C7638"^^xsd:string, "SNOMEDCT_US_2021_03_01:93850006"^^xsd:string, "UMLS_CUI:C0496814"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of labia majora"@en, "malignant tumor of Labia Majora"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11905"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "labium majus cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1245 . obo:DOID_11907 oboInOwl:hasDbXref "MESH:D004473"^^xsd:string, "SNOMEDCT_US_2021_03_01:762694009"^^xsd:string, "UMLS_CUI:C0013568"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11907"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "ecthyma"^^xsd:string ; rdfs:subClassOf obo:DOID_8504 . obo:DOID_11914 oboInOwl:hasDbXref "ICD10CM:K31.84"^^xsd:string, "ICD9CM:536.3"^^xsd:string, "MESH:D018589"^^xsd:string, "NCI:C80512"^^xsd:string, "SNOMEDCT_US_2021_03_01:235675006"^^xsd:string, "UMLS_CUI:C0152020"^^xsd:string ; oboInOwl:hasExactSynonym "Gastroparalysis"@en, "Gastroparesis syndrome"@en, "gastric atonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11914"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gastroparesis"^^xsd:string ; rdfs:subClassOf obo:DOID_1159 . obo:DOID_11917 obo:IAO_0000115 "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:110.3"^^xsd:string, "NCI:C34535"^^xsd:string, "SNOMEDCT_US_2021_03_01:59089002"^^xsd:string, "UMLS_CUI:C0011638"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytosis of Groin and Perianal Area"@en, "Dermatophytosis of groin & perianal area"@en, "Dermatophytosis of groin and perianal area"@en, "Dhobie itch"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11917"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tinea cruris"^^xsd:string ; rdfs:subClassOf obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0002356 obo:UBERON_0008337 obo:UBERON_0012336 ) ] ] . obo:DOID_1192 obo:IAO_0000115 "A nervous system cancer that is located in the peripheral nervous system."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:3194"^^xsd:string ; oboInOwl:hasDbXref "MESH:D010524"^^xsd:string, "MESH:D018317"^^xsd:string, "NCI:C3321"^^xsd:string, "NCI:C4972"^^xsd:string, "SNOMEDCT_US_2021_03_01:126980002"^^xsd:string, "SNOMEDCT_US_2021_03_01:189946005"^^xsd:string, "UMLS_CUI:C0031118"^^xsd:string, "UMLS_CUI:C0206727"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of peripheral nerve"@en, "nerve sheath neoplasm"@en, "tumor of PNS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1192"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "peripheral nervous system neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_3093, obo:DOID_574 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] ) ] . obo:DOID_11920 obo:IAO_0000115 "A respiratory system cancer that is located_in the trachea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C33"^^xsd:string, "ICD9CM:162.0"^^xsd:string, "NCI:C9346"^^xsd:string, "SNOMEDCT_US_2021_03_01:187855003"^^xsd:string, "UMLS_CUI:C0153489"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11920"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "tracheal cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050615, obo:DOID_3225 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] ) ] . obo:DOID_11934 obo:IAO_0000115 "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."^^xsd:string ; oboInOwl:hasDbXref "GARD:12425"^^xsd:string, "MESH:D006258"^^xsd:string, "NCI:C3077"^^xsd:string, "SNOMEDCT_US_2021_03_01:255055008"^^xsd:string, "UMLS_CUI:C0018671"^^xsd:string ; oboInOwl:hasExactSynonym "head and neck neoplasm"@en, "head and neck tumours"@en, "head/neck neoplasm"@en, "tumor of head and neck"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11934"^^xsd:string ; oboInOwl:inSubset doid:DO_MGI_slim, doid:DO_cancer_slim, doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "head and neck cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_0050686 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000033 obo:UBERON_0000974 ) ] ] ) ] . obo:DOID_11939 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11939"^^xsd:string ; a owl:Class ; rdfs:label "obsolete schizo-affective type schizophrenia subchronic state"^^xsd:string ; owl:deprecated true . obo:DOID_11943 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area."^^xsd:string ; oboInOwl:hasExactSynonym "Leukorrhoea vaginalis - trichomonal"@en, "Trichomonal leukorrhoea"@en, "Trichomonal vaginitis &/or vulvovaginitis"@en, "Trichomonal vaginitis (disorder)"@en, "Trichomonal vulvovaginitis"@en, "Trichomonal vulvovaginitis (disorder)"@en, "vaginal trichomoniasis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11943"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas vaginitis"^^xsd:string ; owl:deprecated true . obo:DOID_11944 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis."^^xsd:string ; oboInOwl:hasExactSynonym "Trichomonal prostatitis"@en, "Trichomonal prostatitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11944"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas prostatitis"^^xsd:string ; owl:deprecated true . obo:DOID_11945 obo:IAO_0000115 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color."^^xsd:string ; oboInOwl:hasExactSynonym "Trichomonal cystitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11945"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Trichomonas cystitis"^^xsd:string ; owl:deprecated true . obo:DOID_11946 oboInOwl:hasExactSynonym "Aborter - recurrent"@en, "Habitual aborter"@en, "Habitual aborter - unspecified (disorder)"@en, "Habitual aborter NOS (disorder)"@en, "chronic spontaneous abortion"@en, "recurrent abortion (disorder)"@en, "recurrent miscarriage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11946"^^xsd:string ; a owl:Class ; rdfs:label "obsolete habitual abortion"^^xsd:string ; owl:deprecated true . obo:DOID_11947 oboInOwl:hasExactSynonym "Major depressive disorder, recurrent episode, in full remission"@en, "recurrent major depression in complete remission (disorder)"@en, "recurrent major depressive episodes, in full remission (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11947"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent major depression in complete remission"^^xsd:string ; owl:deprecated true . obo:DOID_11949 oboInOwl:hasDbXref "EFO:0004226"^^xsd:string, "GARD:6956"^^xsd:string, "ICD10CM:A81.0"^^xsd:string, "ICD9CM:046.1"^^xsd:string, "MESH:D007562"^^xsd:string, "NCI:C26802"^^xsd:string, "OMIM:123400"^^xsd:string, "SNOMEDCT_US_2021_03_01:155061007"^^xsd:string, "UMLS_CUI:C0022336"^^xsd:string ; oboInOwl:hasExactSynonym "CJD"@en, "Creutzfeldt Jacob syndrome"@en, "Creutzfeldt Jakob disease"@en, "Creutzfeldt-Jacob disease"@en, "Jakob-Creutzfeldt disease"@en, "Subacute spongiform encephalopathy"@en, "Transmissible virus dementia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11949"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Creutzfeldt-Jakob disease"^^xsd:string ; rdfs:subClassOf obo:DOID_649 . obo:DOID_1195 oboInOwl:hasDbXref "NCI:C27025"^^xsd:string, "SNOMEDCT_US_2021_03_01:129611009"^^xsd:string, "UMLS_CUI:C0238309"^^xsd:string ; oboInOwl:hasExactSynonym "Ischemic peripheral neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1195"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ischemic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_870 . obo:DOID_11950 oboInOwl:hasAlternativeId "DOID:11951"^^xsd:string, "DOID:11953"^^xsd:string ; oboInOwl:hasExactSynonym "antepartum congenital cardiovascular disorder of mother"@en, "postpartum congenital cardiovascular disorder of mother"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11950"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_11952 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11952"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital cardiovascular disorder of mother, with delivery"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_11954 oboInOwl:hasExactSynonym "Psychosexual Dysfunction with Inhibited Sexual Excitement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11954"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychosexual dysfunction with inhibited sexual excitement"^^xsd:string ; owl:deprecated true . obo:DOID_11955 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11955"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malnutrition of moderate degree"^^xsd:string ; owl:deprecated true . obo:DOID_11963 oboInOwl:hasAlternativeId "DOID:11962"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K20"^^xsd:string, "ICD9CM:530.1"^^xsd:string, "MESH:D004941"^^xsd:string, "NCI:C9224"^^xsd:string, "SNOMEDCT_US_2021_03_01:155673008"^^xsd:string, "UMLS_CUI:C0014868"^^xsd:string ; oboInOwl:hasExactSynonym "acute esophagitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11963"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "esophagitis"^^xsd:string ; rdfs:subClassOf obo:DOID_6050 . obo:DOID_11964 obo:IAO_0000115 "An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma capsulatum with retinitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11964"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma capsulatum retinitis"^^xsd:string ; owl:deprecated true . obo:DOID_11968 obo:IAO_0000115 "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N95.2"^^xsd:string, "ICD9CM:627.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:156054004"^^xsd:string, "UMLS_CUI:C0156409"^^xsd:string ; oboInOwl:hasExactSynonym "Senile vaginitis"@en, "atrophic vaginitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11968"^^xsd:string ; a owl:Class ; rdfs:label "postmenopausal atrophic vaginitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2170 . obo:DOID_11970 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11970"^^xsd:string ; a owl:Class ; rdfs:label "obsolete symptomatic menopausal or female climacteric state"^^xsd:string ; owl:deprecated true . obo:DOID_11971 obo:IAO_0000115 "A dysostosis that results_in abnormal fusing of adjacent bones."^^xsd:string ; oboInOwl:hasDbXref "MESH:D013580"^^xsd:string, "UMLS_CUI:C0039093"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11971"^^xsd:string ; a owl:Class ; rdfs:label "synostosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1934 . obo:DOID_11975 oboInOwl:hasDbXref "GARD:13354"^^xsd:string, "GARD:8502"^^xsd:string, "ICD10CM:Q14.2"^^xsd:string, "ICD9CM:377.23"^^xsd:string, "MESH:C535970"^^xsd:string, "OMIM:120430"^^xsd:string, "SNOMEDCT_US_2021_03_01:44295002"^^xsd:string, "UMLS_CUI:C0155299"^^xsd:string ; oboInOwl:hasExactSynonym "Coloboma of optic disc"@en, "Morning glory syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11975"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "coloboma of optic nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_1393 . obo:DOID_11976 obo:IAO_0000115 "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F."^^xsd:string ; oboInOwl:hasDbXref "GARD:943"^^xsd:string, "ICD10CM:A05.1"^^xsd:string, "MESH:D001906"^^xsd:string, "NCI:C84599"^^xsd:string, "SNOMEDCT_US_2021_03_01:154276003"^^xsd:string, "UMLS_CUI:C0006057"^^xsd:string ; oboInOwl:hasExactSynonym "Botulism poisoning"@en, "Food poisoning due to Clostridium botulinum"@en, "Foodborne botulism"@en, "Infection due to clostridium botulinum"@en, "Intoxication with Clostridium botulinum toxin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11976"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "botulism"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_36826 obo:NCBITaxon_36827 obo:NCBITaxon_36830 obo:NCBITaxon_36831 ) ] ] . obo:DOID_11977 oboInOwl:hasExactSynonym "Magnesium disorder"@en, "disorder of magnesium metabolism"@en, "disorder of magnesium metabolism (disorder)"@en, "disorder of magnesium metabolism NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11977"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of magnesium metabolism"^^xsd:string ; owl:deprecated true . obo:DOID_11978 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11978"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic pyelonephritis without lesion of renal medullary necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_11981 oboInOwl:hasDbXref "ICD9CM:278.01"^^xsd:string, "MESH:D009767"^^xsd:string, "NCI:C34858"^^xsd:string, "SNOMEDCT_US_2021_03_01:389986000"^^xsd:string, "UMLS_CUI:C0028756"^^xsd:string ; oboInOwl:hasExactSynonym "Severe obesity"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11981"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "morbid obesity"^^xsd:string ; rdfs:subClassOf obo:DOID_9970 . obo:DOID_11983 obo:IAO_0000115 "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity."^^xsd:string ; oboInOwl:hasDbXref "GARD:5575"^^xsd:string, "ICD10CM:Q87.11"^^xsd:string, "ICD9CM:759.81"^^xsd:string, "MESH:D011218"^^xsd:string, "NCI:C75463"^^xsd:string, "OMIM:176270"^^xsd:string, "ORDO:739"^^xsd:string, "SNOMEDCT_US_2021_03_01:205794007"^^xsd:string, "UMLS_CUI:C0032897"^^xsd:string ; oboInOwl:hasExactSynonym "Prader Willi syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11983"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Prader-Willi syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0080014, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:SYMP_0000462 ], [ a owl:Restriction ; owl:minQualifiedCardinality "1"^^xsd:nonNegativeInteger ; owl:onClass [ a owl:Class ; owl:unionOf ([ a owl:Class ; owl:intersectionOf (obo:SO_0001745 obo:SO_0002054 ) ] [ a owl:Class ; owl:intersectionOf (obo:SO_0001776 obo:SO_0002054 obo:SO_1000029 ) ] [ a owl:Class ; owl:intersectionOf (obo:SO_0002054 obo:SO_1000044 ) ] ) ] ; owl:onProperty obo:IDO_0000664 ] . obo:DOID_11984 obo:IAO_0000115 "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11986"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:425.1"^^xsd:string, "KEGG:05410"^^xsd:string, "MESH:D002312"^^xsd:string, "MESH:D024741"^^xsd:string, "NCI:C34449"^^xsd:string, "NCI:C84773"^^xsd:string, "ORDO:217568"^^xsd:string, "SNOMEDCT_US_2021_03_01:389998005"^^xsd:string, "SNOMEDCT_US_2021_03_01:83978005"^^xsd:string, "UMLS_CUI:C0007194"^^xsd:string, "UMLS_CUI:C0949658"^^xsd:string ; oboInOwl:hasExactSynonym "familial hypertrophic cardiomyopathy"@en, "hypertrophic obstructive cardiomyopathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11984"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hypertrophic cardiomyopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060036 . obo:DOID_11987 oboInOwl:hasExactSynonym "gonococcal infectious disease of anus and rectum"@en, "gonococcal proctitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11987"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete anorectal gonorrhea"^^xsd:string ; owl:deprecated true . obo:DOID_11988 oboInOwl:hasDbXref "ICD10CM:H11.12"^^xsd:string, "ICD9CM:372.54"^^xsd:string, "SNOMEDCT_US_2021_03_01:13706005"^^xsd:string, "UMLS_CUI:C0155162"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11988"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival concretion"^^xsd:string ; rdfs:subClassOf obo:DOID_11653 . obo:DOID_11990 obo:IAO_0000115 "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A21.0"^^xsd:string, "ICD9CM:021.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:37722001"^^xsd:string, "UMLS_CUI:C0152941"^^xsd:string ; oboInOwl:hasExactSynonym "Ulceroglandular tularemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11990"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "ulceroglandular tularemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2123 . obo:DOID_11991 obo:IAO_0000115 "An osteosclerosis that results_in numerous bone islands located_in skeleton."^^xsd:string ; oboInOwl:hasDbXref "GARD:4158"^^xsd:string, "ICD10CM:Q78.8"^^xsd:string, "ICD9CM:756.53"^^xsd:string, "MESH:D010023"^^xsd:string, "NCI:C84985"^^xsd:string, "SNOMEDCT_US_2021_03_01:9147009"^^xsd:string, "UMLS_CUI:C0029455"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11991"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "osteopoikilosis"^^xsd:string ; rdfs:subClassOf obo:DOID_4254, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0011001 ] . obo:DOID_11994 oboInOwl:hasDbXref "ICD10CM:N50.0"^^xsd:string, "ICD9CM:608.3"^^xsd:string, "NCI:C123259"^^xsd:string, "SNOMEDCT_US_2021_03_01:155938008"^^xsd:string, "UMLS_CUI:C0156312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11994"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "atrophy of testis"^^xsd:string ; rdfs:subClassOf obo:DOID_2519 . obo:DOID_11996 oboInOwl:hasDbXref "ICD10CM:N44.02"^^xsd:string, "ICD9CM:608.2"^^xsd:string, "MESH:D013086"^^xsd:string, "NCI:C26885"^^xsd:string, "OMIM:187400"^^xsd:string, "SNOMEDCT_US_2021_03_01:198046000"^^xsd:string, "UMLS_CUI:C0037856"^^xsd:string ; oboInOwl:hasExactSynonym "Torsion of testicle"@en, "Torsion of testis"@en, "testicular Torsion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11996"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spermatic cord torsion"^^xsd:string ; rdfs:subClassOf obo:DOID_2519 . obo:DOID_11997 oboInOwl:hasDbXref "ICD10CM:N43.4"^^xsd:string, "ICD9CM:608.1"^^xsd:string, "MESH:D013088"^^xsd:string, "NCI:C120909"^^xsd:string, "SNOMEDCT_US_2021_03_01:155936007"^^xsd:string, "UMLS_CUI:C0037859"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:11997"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "spermatocele"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_120 obo:IAO_0000115 "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1244"^^xsd:string, "DOID:1281"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C57"^^xsd:string, "ICD9CM:184"^^xsd:string, "MESH:D005833"^^xsd:string, "NCI:C3053"^^xsd:string, "NCI:C4913"^^xsd:string, "SNOMEDCT_US_2021_03_01:126907002"^^xsd:string, "SNOMEDCT_US_2021_03_01:188207007"^^xsd:string, "UMLS_CUI:C0017416"^^xsd:string, "UMLS_CUI:C0153585"^^xsd:string, "UMLS_CUI:C0699889"^^xsd:string ; oboInOwl:hasExactSynonym "female reproductive cancer"@en, "malignant Gynecologic tumor"@en, "malignant neoplasm of female genital organ"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:120"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "female reproductive organ cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_193, obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000474 ] ) ] . obo:DOID_12000 oboInOwl:hasExactSynonym "metastatic tumor to the Trachea"@en, "secondary malignant neoplasm of trachea (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12000"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of trachea"^^xsd:string ; owl:deprecated true . obo:DOID_12001 oboInOwl:hasDbXref "NCI:C6248"^^xsd:string, "UMLS_CUI:C1336773"^^xsd:string ; oboInOwl:hasExactSynonym "Lymphoma of Trachea"@en, "lymphoma of the trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12001"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tracheal lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_11920, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_12002 obo:IAO_0000115 "A sarcoma and malignant tumor of trachea that is located_in the trachea."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6050"^^xsd:string, "UMLS_CUI:C1336774"^^xsd:string ; oboInOwl:hasExactSynonym "sarcoma of the trachea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12002"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trachea sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1115, obo:DOID_11920, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0002321 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003126 ] . obo:DOID_12003 obo:IAO_0000115 "A squamous cell carcinoma that is located_in the trachea."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4448"^^xsd:string, "SNOMEDCT_US_2021_03_01:254620000"^^xsd:string, "UMLS_CUI:C0345946"^^xsd:string ; oboInOwl:hasExactSynonym "Tracheal Epidermoid carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12003"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trachea squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4876, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_1201 oboInOwl:hasDbXref "NCI:C5122"^^xsd:string, "SNOMEDCT_US_2021_03_01:126971002"^^xsd:string, "UMLS_CUI:C1263897"^^xsd:string ; oboInOwl:hasExactSynonym "neoplasm of trigeminal nerve"@en, "tumor of Trigeminal nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1201"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trigeminal nerve neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_338 . obo:DOID_12010 oboInOwl:hasDbXref "GARD:9790"^^xsd:string, "ICD10CM:H47.01"^^xsd:string, "ICD9CM:377.41"^^xsd:string, "MESH:D018917"^^xsd:string, "SNOMEDCT_US_2021_03_01:14357004"^^xsd:string, "UMLS_CUI:C0155305"^^xsd:string ; oboInOwl:hasExactSynonym "Ischemic optic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12010"^^xsd:string ; a owl:Class ; rdfs:label "anterior ischemic optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 . obo:DOID_12016 oboInOwl:hasAlternativeId "DOID:12015"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C71.1"^^xsd:string, "ICD9CM:191.1"^^xsd:string, "NCI:C5572"^^xsd:string, "SNOMEDCT_US_2021_03_01:126954003"^^xsd:string, "SNOMEDCT_US_2021_03_01:93807001"^^xsd:string, "UMLS_CUI:C0153635"^^xsd:string, "UMLS_CUI:C1263886"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of frontal lobe"@en, "neoplasm of frontal lobe"@en, "tumor of Frontal Lobe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12016"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "frontal lobe neoplasm"^^xsd:string ; rdfs:subClassOf obo:DOID_368 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0016525 ] ) ] . obo:DOID_12017 obo:IAO_0000115 "A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly."^^xsd:string ; oboInOwl:hasExactSynonym "Group B"@en, "Group B streptococcal pneumonia (disorder)"@en, "Pneumonia due to Streptococcus Group B"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12017"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete group B streptococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12019 obo:IAO_0000115 "A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst."^^xsd:string ; oboInOwl:hasExactSynonym "pneumonia due to streptococcus group A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12019"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete group A streptococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12020 oboInOwl:hasExactSynonym "malignant neoplasm of corpus uteri, excluding isthmus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12020"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of corpus uteri, except isthmus"^^xsd:string ; owl:deprecated true . obo:DOID_12021 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving intrathoracic lymph nodes"@en, "Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder)"@en, "Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12021"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes"^^xsd:string ; owl:deprecated true . obo:DOID_12022 oboInOwl:hasExactSynonym "spontaneous abortion, unspecified, complicated by genital tract and pelvic infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12022"^^xsd:string ; a owl:Class ; rdfs:label "obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12028 obo:IAO_0000115 "An adrenal adenoma characterized by the over production of aldosterone."^^xsd:string ; oboInOwl:hasDbXref "GARD:7456"^^xsd:string, "ICD10CM:E26.01"^^xsd:string, "ICD9CM:255.12"^^xsd:string, "MESH:D006929"^^xsd:string, "NCI:C34510"^^xsd:string, "SNOMEDCT_US_2021_03_01:13536004"^^xsd:string, "UMLS_CUI:C1384514"^^xsd:string ; oboInOwl:hasExactSynonym "Conn syndrome"@en, "primary aldosteronism"@en, "primary hyperaldosteronism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12028"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Conn's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_656 . obo:DOID_12029 obo:IAO_0000115 "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44.13"^^xsd:string, "ICD9CM:360.11"^^xsd:string, "MESH:D009879"^^xsd:string, "SNOMEDCT_US_2021_03_01:75315001"^^xsd:string, "UMLS_CUI:C0029077"^^xsd:string ; oboInOwl:hasExactSynonym "Sympathetic uveitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12029"^^xsd:string ; a owl:Class ; rdfs:label "sympathetic ophthalmia"^^xsd:string ; rdfs:subClassOf obo:DOID_12030 . obo:DOID_1203 oboInOwl:hasDbXref "ICD9CM:292.8"^^xsd:string, "UMLS_CUI:C0154325"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1203"^^xsd:string ; a owl:Class ; rdfs:label "drug-induced mental disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_8646 . obo:DOID_12030 obo:IAO_0000115 "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid."^^xsd:string ; oboInOwl:hasDbXref "GARD:8577"^^xsd:string, "ICD10CM:H44.11"^^xsd:string, "ICD9CM:360.12"^^xsd:string, "MESH:D015864"^^xsd:string, "NCI:C84989"^^xsd:string, "SNOMEDCT_US_2021_03_01:75614007"^^xsd:string, "UMLS_CUI:C0030343"^^xsd:string ; oboInOwl:hasExactSynonym "Diffuse uveitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12030"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "panuveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13141, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_1204 oboInOwl:hasExactSynonym "Arthropathy associated with a hypersensitivity reaction (disorder)"@en, "Arthropathy associated with hypersensitivity reaction"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1204"^^xsd:string ; a owl:Class ; rdfs:label "obsolete arthropathy due to hypersensitivity reaction"^^xsd:string ; owl:deprecated true . obo:DOID_12040 oboInOwl:hasExactSynonym "Hydrops fetalis - due to isoim"@en, "Hydrops fetalis due to isoimmunization"@en, "Hydrops fetalis due to isoimmunization (disorder)"@en, "Hydrops fetalis due to isoimmunization [dup] (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12040"^^xsd:string ; a owl:Class ; rdfs:label "obsolete immune hydrops fetalis"^^xsd:string ; owl:deprecated true . obo:DOID_12043 oboInOwl:hasDbXref "ICD10CM:P57.0"^^xsd:string, "ICD9CM:773.4"^^xsd:string, "NCI:C101270"^^xsd:string, "SNOMEDCT_US_2021_03_01:206433007"^^xsd:string, "UMLS_CUI:C0270204"^^xsd:string ; oboInOwl:hasExactSynonym "Kernicterus due to isoimmunization"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12043"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kernicterus due to isoimmunization"^^xsd:string ; rdfs:subClassOf obo:DOID_2383 . obo:DOID_1205 obo:IAO_0000115 "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods."^^xsd:string ; obo:OBI_9991118 "allergic disease"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:T78.40"^^xsd:string, "MESH:D006967"^^xsd:string, "NCI:C3114"^^xsd:string, "SNOMEDCT_US_2021_03_01:257550005"^^xsd:string, "UMLS_CUI:C0020517"^^xsd:string ; oboInOwl:hasExactSynonym "allergic hypersensitivity disease"@en, "hypersensitivity"@en, "hypersensitivity reaction type I disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "allergic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2914 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000900 ] ) ] . obo:DOID_12052 obo:IAO_0000115 "A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion."^^xsd:string ; oboInOwl:hasExactSynonym "Cryptococcal meningitis"@en, "Cryptococcal meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12052"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cryptococcal meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_12053 obo:IAO_0000115 "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii."^^xsd:string ; oboInOwl:hasDbXref "GARD:6218"^^xsd:string, "ICD10CM:B45"^^xsd:string, "ICD9CM:117.5"^^xsd:string, "MESH:D003453"^^xsd:string, "NCI:C2967"^^xsd:string, "SNOMEDCT_US_2021_03_01:42386007"^^xsd:string, "UMLS_CUI:C0010414"^^xsd:string ; oboInOwl:hasExactSynonym "Busse-Buschke's disease"@en, "European cryptococcosis"@en, "cryptococcal infection"@en, "torula"@en, "torulosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "cryptococcus neoformans infection"@en ; oboInOwl:id "DOID:12053"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cryptococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2473 ; skos:exactMatch "MESH:D003453"^^xsd:string . obo:DOID_12054 obo:IAO_0000115 "A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species."^^xsd:string ; oboInOwl:hasExactSynonym "Meningitis due to trypanosomiasis"@en, "Trypanosomiasis with meningitis (disorder)"@en, "trypanosomiasis with meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12054"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Trypanosoma meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_12055 oboInOwl:hasDbXref "ICD10CM:D86.81"^^xsd:string, "ICD9CM:321.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:192673008"^^xsd:string, "UMLS_CUI:C0154648"^^xsd:string ; oboInOwl:hasExactSynonym "Meningitis in sarcoidosis"@en, "Sarcoid meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12055"^^xsd:string ; a owl:Class ; rdfs:label "sarcoid meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13403 . obo:DOID_12056 oboInOwl:hasExactSynonym "Non-pyogenic meningitis (disorder)"@en, "Nonpyogenic meningitis"@en, "Nonpyogenic meningitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12056"^^xsd:string ; a owl:Class ; rdfs:label "obsolete meningitis with clear cerebrospinal fluid"^^xsd:string ; owl:deprecated true . obo:DOID_12058 oboInOwl:hasAlternativeId "DOID:12059"^^xsd:string ; oboInOwl:hasExactSynonym "Fetal-maternal hemorrhage, with delivery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12058"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fetal-maternal hemorrhage affecting management of mother"^^xsd:string ; owl:deprecated true . obo:DOID_1206 obo:IAO_0000115 "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability."^^xsd:string ; oboInOwl:hasDbXref "GARD:5696"^^xsd:string, "ICD10CM:F84.2"^^xsd:string, "MESH:D015518"^^xsd:string, "NCI:C75488"^^xsd:string, "OMIM:312750"^^xsd:string, "OMIM:613454"^^xsd:string, "SNOMEDCT_US_2021_03_01:192583003"^^xsd:string, "UMLS_CUI:C0035372"^^xsd:string ; oboInOwl:hasExactSynonym "Rett's disorder"@en, "cerebroatrophic hyperammonemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1206"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Rett syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060040 . obo:DOID_12061 oboInOwl:hasExactSynonym "Fetal blood loss (disorder)"@en, "Fetal blood loss NOS (disorder)"@en, "Fetal blood loss, unspecified (disorder)"@en, "Fetal haemorrhage"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12061"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fetal blood loss"^^xsd:string ; owl:deprecated true . obo:DOID_12064 oboInOwl:hasDbXref "NCI:C6631"^^xsd:string, "UMLS_CUI:C1334674"^^xsd:string ; oboInOwl:hasExactSynonym "Neurofibroma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12064"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mediastinum neurofibroma"^^xsd:string ; rdfs:subClassOf obo:DOID_4691, obo:DOID_962 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_962 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0003728 ] ) ] . obo:DOID_12065 oboInOwl:hasExactSynonym "Ganglioneuroma of mediastinum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12065"^^xsd:string ; a owl:Class ; rdfs:label "obsolete ganglioneuroma of the mediastinum"^^xsd:string ; owl:deprecated true . obo:DOID_12070 oboInOwl:hasAlternativeId "DOID:11791"^^xsd:string ; oboInOwl:hasDbXref "GARD:10930"^^xsd:string, "ICD10CM:K31.82"^^xsd:string, "ICD9CM:537.84"^^xsd:string, "UMLS_CUI:C1135229"^^xsd:string ; oboInOwl:hasExactSynonym "Dieulafoy lesion (hemorrhagic) of intestine"@en, "dieulafoy lesion (hemorrhagic) of stomach and duodenum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12070"^^xsd:string ; a owl:Class ; rdfs:label "Dieulafoy lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12072 oboInOwl:hasDbXref "ICD9CM:537.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:335002"^^xsd:string, "UMLS_CUI:C0152163"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12072"^^xsd:string ; a owl:Class ; rdfs:label "pylorospasm"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12076 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12076"^^xsd:string ; a owl:Class ; rdfs:label "obsolete interstitial emphysema and related conditions of newborn"^^xsd:string ; owl:deprecated true . obo:DOID_12084 oboInOwl:hasAlternativeId "DOID:10502"^^xsd:string, "DOID:11494"^^xsd:string, "DOID:12080"^^xsd:string, "DOID:12081"^^xsd:string, "DOID:12083"^^xsd:string, "DOID:2091"^^xsd:string, "DOID:9424"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:716.41"^^xsd:string, "SNOMEDCT_US_2021_03_01:201988000"^^xsd:string, "UMLS_CUI:C0158007"^^xsd:string ; oboInOwl:hasExactSynonym "Transient arthropathy involving forearm"@en, "Transient arthropathy involving hand"@en, "Transient arthropathy involving lower leg"@en, "Transient arthropathy involving multiple sites"@en, "Transient arthropathy involving pelvic region and thigh"@en, "Transient arthropathy involving shoulder region"@en, "Transient arthropathy involving upper arm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12084"^^xsd:string ; a owl:Class ; rdfs:label "transient arthropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_2092 . obo:DOID_12087 oboInOwl:hasDbXref "ICD10CM:H16.44"^^xsd:string, "ICD9CM:370.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:2102007"^^xsd:string, "UMLS_CUI:C0155095"^^xsd:string ; oboInOwl:hasExactSynonym "Deep vascularization of cornea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12087"^^xsd:string ; a owl:Class ; rdfs:label "deep corneal vascularisation"^^xsd:string ; rdfs:subClassOf obo:DOID_11382 . obo:DOID_1209 obo:IAO_0000115 "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H46.2"^^xsd:string, "ICD9CM:377.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:82108004"^^xsd:string, "UMLS_CUI:C0155302"^^xsd:string ; oboInOwl:hasExactSynonym "Nutritional optic neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1209"^^xsd:string ; a owl:Class ; rdfs:label "nutritional optic neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1210 . obo:DOID_12091 oboInOwl:hasExactSynonym "vitamin A deficiency with corneal xerosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12091"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with corneal xerosis"^^xsd:string ; owl:deprecated true . obo:DOID_12092 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12092"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Galactorrhea associated with childbirth"^^xsd:string ; owl:deprecated true . obo:DOID_12096 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A25.0"^^xsd:string, "ICD9CM:026.0"^^xsd:string, "MESH:D011906"^^xsd:string, "SNOMEDCT_US_2021_03_01:19044004"^^xsd:string, "UMLS_CUI:C0152062"^^xsd:string ; oboInOwl:hasExactSynonym "Spirillary fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Spirillosis"@en ; oboInOwl:id "DOID:12096"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "sodoku disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_12097 oboInOwl:hasExactSynonym "Rat bite fever (disorder)"@en, "Rat-bite fever"@en, "Rat-bite fever NOS (disorder)"@en, "Rat-bite fever, unspecified (disorder)"@en, "Unspecified rat-bite fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12097"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete rat-bite fever"^^xsd:string ; owl:deprecated true . obo:DOID_12098 oboInOwl:hasDbXref "GARD:7805"^^xsd:string, "ICD10CM:G50.0"^^xsd:string, "ICD9CM:350.1"^^xsd:string, "MESH:D014277"^^xsd:string, "OMIM:190400"^^xsd:string, "SNOMEDCT_US_2021_03_01:155066002"^^xsd:string, "UMLS_CUI:C0040997"^^xsd:string ; oboInOwl:hasExactSynonym "Trifacial neuralgia"@en, "Trigeminal neuralgia"@en, "trifocal neuralgia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12098"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "trigeminal neuralgia"^^xsd:string ; rdfs:subClassOf obo:DOID_561 . obo:DOID_121 obo:IAO_0000115 "A female reproductive system disease that is located_in the vagina."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014623"^^xsd:string, "NCI:C26910"^^xsd:string, "SNOMEDCT_US_2021_03_01:25658005"^^xsd:string, "UMLS_CUI:C0042251"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:121"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vaginal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_229 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] ) ] . obo:DOID_1210 obo:IAO_0000115 "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision."^^xsd:string ; oboInOwl:hasDbXref "GARD:7320"^^xsd:string, "ICD10CM:H46"^^xsd:string, "ICD9CM:377.3"^^xsd:string, "MESH:D009902"^^xsd:string, "NCI:C84950"^^xsd:string, "SNOMEDCT_US_2021_03_01:194051001"^^xsd:string, "UMLS_CUI:C0029134"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1210"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "optic neuritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1891 . obo:DOID_12104 oboInOwl:hasExactSynonym "vitamin A deficiency with corneal ulceration AND xerosis (disorder)"@en, "vitamin A deficiency with corneal ulceration and xerosis"@en, "vitamin A deficiency with corneal xerosis and ulcer (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12104"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with corneal xerosis and ulcer"^^xsd:string ; owl:deprecated true . obo:DOID_12105 oboInOwl:hasDbXref "ICD9CM:720.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:6963001"^^xsd:string, "UMLS_CUI:C0021396"^^xsd:string ; oboInOwl:hasExactSynonym "Inflammatory spondylopathies in disease EC"@en, "Inflammatory spondylopathies in disease classified elsewhere"@en, "Inflammatory spondylopathy in disease classified elsewhere"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12105"^^xsd:string ; a owl:Class ; rdfs:label "inflammatory spondylopathy"^^xsd:string ; rdfs:subClassOf obo:DOID_6590 . obo:DOID_12106 oboInOwl:hasExactSynonym "Syphilitic endocarditis of tricuspid valve (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12106"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete tricuspid valve syphilitic endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_12107 oboInOwl:hasExactSynonym "primary retinal cyst (disorder)"@en, "primary retinal cysts"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12107"^^xsd:string ; a owl:Class ; rdfs:label "obsolete primary retinal cyst"^^xsd:string ; owl:deprecated true . obo:DOID_12108 oboInOwl:hasDbXref "ICD9CM:361.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:65545003"^^xsd:string, "UMLS_CUI:C0344289"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12108"^^xsd:string ; a owl:Class ; rdfs:label "bullous retinoschisis"^^xsd:string ; rdfs:subClassOf obo:DOID_8465 . obo:DOID_12111 oboInOwl:hasExactSynonym "vitamin A deficiency with xerophthalmic corneal scars (disorder)"@en, "vitamin A deficiency with xerophthalmic scars of cornea"@en, "vitamin A deficiency with xerophthalmic scars of cornea (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12111"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vitamin A deficiency with xerophthalmic corneal scar"^^xsd:string ; owl:deprecated true . obo:DOID_12113 oboInOwl:hasExactSynonym "nerve conduction deafness"@en, "neural hearing loss"@en, "neural hearing loss (finding)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12113"^^xsd:string ; a owl:Class ; rdfs:label "obsolete nerve deafness"^^xsd:string ; owl:deprecated true . obo:DOID_12115 obo:IAO_0000115 "A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills."^^xsd:string ; oboInOwl:hasExactSynonym "Septic sore throat due to streptococcal infection"@en, "Strept throat"@en, "Streptococcal angina"@en, "Streptococcal sore throat"@en, "Streptococcal sore throat NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12115"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete streptococcal pharyngitis"^^xsd:string ; owl:deprecated true . obo:DOID_12117 obo:IAO_0000115 "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs."^^xsd:string ; oboInOwl:hasDbXref "GARD:11894"^^xsd:string, "ICD10CM:J84.02"^^xsd:string, "ICD9CM:516.2"^^xsd:string, "MESH:C562405"^^xsd:string, "OMIM:265100"^^xsd:string, "SNOMEDCT_US_2021_03_01:196160008"^^xsd:string, "UMLS_CUI:C0155912"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12117"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pulmonary alveolar microlithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_12118 obo:IAO_0000115 "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050330"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J84.03"^^xsd:string, "ICD9CM:516.1"^^xsd:string, "MESH:C536281"^^xsd:string, "OMIM:178550"^^xsd:string, "OMIM:235500"^^xsd:string, "ORDO:99931"^^xsd:string, "SNOMEDCT_US_2021_03_01:190848001"^^xsd:string, "UMLS_CUI:C0020807"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic pulmonary hemosiderosis"@en, "brown induration"@en, "brown lung"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12118"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "pulmonary hemosiderosis"^^xsd:string ; rdfs:subClassOf obo:DOID_12119, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019153 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] . obo:DOID_12119 obo:IAO_0000115 "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload."^^xsd:string ; oboInOwl:hasDbXref "GARD:6595"^^xsd:string, "MESH:D006486"^^xsd:string, "SNOMEDCT_US_2021_03_01:39011001"^^xsd:string, "UMLS_CUI:C0019114"^^xsd:string ; oboInOwl:hasExactSynonym "haemosiderosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12119"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hemosiderosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2351 . obo:DOID_12120 obo:IAO_0000115 "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J84.01"^^xsd:string, "ICD9CM:516.0"^^xsd:string, "MESH:D011649"^^xsd:string, "NCI:C85037"^^xsd:string, "OMIM:265120"^^xsd:string, "OMIM:300770"^^xsd:string, "OMIM:610913"^^xsd:string, "OMIM:610921"^^xsd:string, "OMIM:614370"^^xsd:string, "ORDO:264675"^^xsd:string, "SNOMEDCT_US_2021_03_01:10501004"^^xsd:string, "UMLS_CUI:C0034050"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12120"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "pulmonary alveolar proteinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_850 . obo:DOID_12121 oboInOwl:hasExactSynonym "secondary syphilitic periostitis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12121"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete secondary syphilitic periostitis"^^xsd:string ; owl:deprecated true . obo:DOID_12123 oboInOwl:hasDbXref "ICD10CM:J84.10"^^xsd:string, "ICD9CM:515"^^xsd:string, "SNOMEDCT_US_2021_03_01:266368002"^^xsd:string, "UMLS_CUI:C0175999"^^xsd:string ; oboInOwl:hasExactSynonym "Post-inflammatory pulmonary fibrosis"@en, "Postinflammatory pulmonary fibrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12123"^^xsd:string ; a owl:Class ; rdfs:label "postinflammatory pulmonary fibrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3770 . obo:DOID_12124 obo:IAO_0000115 "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H15.11"^^xsd:string, "ICD9CM:379.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:194141004"^^xsd:string, "UMLS_CUI:C0155351"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12124"^^xsd:string ; a owl:Class ; rdfs:label "episcleritis periodica fugax"^^xsd:string ; rdfs:subClassOf obo:DOID_11343, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_12125 oboInOwl:hasDbXref "ICD10CM:H16.23"^^xsd:string, "ICD9CM:370.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:193777005"^^xsd:string, "UMLS_CUI:C0155084"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12125"^^xsd:string ; a owl:Class ; rdfs:label "neurotrophic keratoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_12128 obo:IAO_0000115 "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:307.52"^^xsd:string, "MESH:D010842"^^xsd:string, "NCI:C92566"^^xsd:string, "SNOMEDCT_US_2021_03_01:14077003"^^xsd:string, "UMLS_CUI:C0031873"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12128"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pica disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8670 . obo:DOID_12129 obo:IAO_0000115 "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F50.2"^^xsd:string, "MESH:D002032"^^xsd:string, "NCI:C97162"^^xsd:string, "SNOMEDCT_US_2021_03_01:78004001"^^xsd:string, "UMLS_CUI:C0006370"^^xsd:string ; oboInOwl:hasExactSynonym "hyperorexia nervosa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12129"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "bulimia nervosa"^^xsd:string ; rdfs:subClassOf obo:DOID_8670 . obo:DOID_1213 oboInOwl:hasExactSynonym "Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder)"@en, "Tympanosclerosis involving tympanic membrane and ear ossicles"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1213"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Tympanosclerosis of tympanic membrane and ossicles"^^xsd:string ; owl:deprecated true . obo:DOID_12132 obo:IAO_0000115 "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels."^^xsd:string ; oboInOwl:hasDbXref "GARD:7880"^^xsd:string, "ICD10CM:M31.3"^^xsd:string, "ICD9CM:446.4"^^xsd:string, "MESH:D014890"^^xsd:string, "NCI:C3444"^^xsd:string, "OMIM:608710"^^xsd:string, "SNOMEDCT_US_2021_03_01:195353004"^^xsd:string, "UMLS_CUI:C3495801"^^xsd:string ; oboInOwl:hasExactSynonym "Necrotizing respiratory granulomatosis"@en, "Wegener granulomatosis, formerly"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12132"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granulomatosis with polyangiitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060050, obo:DOID_37, obo:DOID_557, obo:DOID_850, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000153 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000709 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000178 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_12133 obo:IAO_0000115 "A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children)."^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Yersinia enterocolitica (disorder)"@en, "Yersinia enterocolitis"@en, "infectious disease by Yersinia enterocolitica"@en, "intestinal infection due to yersinia enterocolitica"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12133"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Yersinia enterocolitica intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12134 obo:IAO_0000115 "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged."^^xsd:string ; oboInOwl:hasDbXref "GARD:6591"^^xsd:string, "ICD10CM:D66"^^xsd:string, "ICD9CM:286.0"^^xsd:string, "MESH:D006467"^^xsd:string, "NCI:C27146"^^xsd:string, "OMIM:306700"^^xsd:string, "ORDO:98878"^^xsd:string, "SNOMEDCT_US_2021_03_01:28293008"^^xsd:string, "UMLS_CUI:C0019069"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital factor VIII disorder"@en, "Hemophilia A"@en, "Subhemophilia"@en, "classic hemophilia A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12134"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "factor VIII deficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] ; skos:exactMatch "MESH:D006467"^^xsd:string . obo:DOID_12135 oboInOwl:hasExactSynonym "acquired factor VIII deficiency disease (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12135"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired factor VIII deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_12136 oboInOwl:hasExactSynonym "acquired coagulation factor deficiency"@en, "acquired coagulation factor deficiency (disorder)"@en, "acquired coagulation factor deficiency NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12136"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired coagulation factor deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_12139 obo:IAO_0000115 "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F34.1"^^xsd:string, "ICD9CM:300.4"^^xsd:string, "MESH:D019263"^^xsd:string, "NCI:C34562"^^xsd:string, "SNOMEDCT_US_2021_03_01:192384008"^^xsd:string, "UMLS_CUI:C0013415"^^xsd:string ; oboInOwl:hasExactSynonym "dysthymia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12139"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "dysthymic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3324 . obo:DOID_1214 oboInOwl:hasDbXref "ICD9CM:385.09"^^xsd:string, "SNOMEDCT_US_2021_03_01:111540000"^^xsd:string, "UMLS_CUI:C0155477"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1214"^^xsd:string ; a owl:Class ; rdfs:label "tympanosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_12140 obo:IAO_0000115 "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050016"^^xsd:string, "DOID:0050019"^^xsd:string, "DOID:0050020"^^xsd:string ; oboInOwl:hasDbXref "GARD:6030"^^xsd:string, "ICD9CM:086.2"^^xsd:string, "KEGG:05142"^^xsd:string, "SNOMEDCT_US_2021_03_01:186817003"^^xsd:string, "UMLS_CUI:C0007932"^^xsd:string ; oboInOwl:hasExactSynonym "Chagas' disease"@en, "chagas' disease with digestive system involvement"@en, "chagas' disease with nervous system involvement"@en, "chagas' disease with other organ involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "American trypanosomiasis"@en ; oboInOwl:id "DOID:12140"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Chagas disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10113, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5693 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:DOID_820 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12141 obo:IAO_0000115 "An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "non-arthropod-borne meningitis due to adenovirus"@en ; oboInOwl:id "DOID:12141"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adenovirus meningitis"^^xsd:string ; owl:deprecated true . obo:DOID_12143 oboInOwl:hasDbXref "ICD9CM:596.54"^^xsd:string, "MESH:D001750"^^xsd:string, "NCI:C79696"^^xsd:string, "SNOMEDCT_US_2021_03_01:192972000"^^xsd:string, "UMLS_CUI:C0005697"^^xsd:string ; oboInOwl:hasExactSynonym "Neuropathic bladder"@en, "neurogenic dysfunction of the urinary bladder"@en, "neurogenic urinary bladder disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12143"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurogenic bladder"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_12144 oboInOwl:hasDbXref "ICD9CM:596.52"^^xsd:string, "SNOMEDCT_US_2021_03_01:9009001"^^xsd:string, "UMLS_CUI:C0489967"^^xsd:string ; oboInOwl:hasExactSynonym "Low bladder compliance"@en, "hyperactivity of bladder"@en, "hypertonic bladder"@en, "hypertonicity of bladder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12144"^^xsd:string ; a owl:Class ; rdfs:label "low compliance bladder"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_12145 oboInOwl:hasDbXref "ICD9CM:596.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:236655005"^^xsd:string, "UMLS_CUI:C0341747"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12145"^^xsd:string ; a owl:Class ; rdfs:label "detrusor sphincter dyssynergia"^^xsd:string ; rdfs:subClassOf obo:DOID_365 . obo:DOID_12148 obo:IAO_0000115 "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12147"^^xsd:string, "DOID:2774"^^xsd:string ; oboInOwl:hasDbXref "GARD:207"^^xsd:string, "ICD10CM:B67.7"^^xsd:string, "ICD9CM:122.7"^^xsd:string, "MESH:C536591"^^xsd:string, "SNOMEDCT_US_2021_03_01:21009004"^^xsd:string, "UMLS_CUI:C0152069"^^xsd:string ; oboInOwl:hasExactSynonym "Multilocular hydatid"@en, "alveolococcosis"@en, "small fox tapeworm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "echinococcus multilocularis infection"@en ; oboInOwl:id "DOID:12148"^^xsd:string ; a owl:Class ; rdfs:label "alveolar echinococcosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1496, obo:DOID_409, obo:DOID_850, obo:DOID_936, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ] . obo:DOID_1215 oboInOwl:hasExactSynonym "Tympanosclerosis involving tympanic membrane only"@en, "Tympanosclerosis involving tympanic membrane only (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1215"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Tympanosclerosis of tympanic membrane only"^^xsd:string ; owl:deprecated true . obo:DOID_12150 oboInOwl:hasExactSynonym "Cholelithiasis AND acute cholecystitis with obstruction (disorder)"@en, "gallbladder calculus with acute cholecystitis and obstruction (disorder)"@en, "gallbladder calculus with acute cholecystitis and obstruction NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12150"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calculus of gallbladder with acute cholecystitis, with obstruction"^^xsd:string ; owl:deprecated true . obo:DOID_12151 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12151"^^xsd:string ; a owl:Class ; rdfs:label "obsolete currently pregnant habitual aborter"^^xsd:string ; owl:deprecated true . obo:DOID_12155 obo:IAO_0000115 "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10662"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A87.2"^^xsd:string, "MESH:D008216"^^xsd:string, "NCI:C174114"^^xsd:string, "SNOMEDCT_US_2021_03_01:192668002"^^xsd:string, "UMLS_CUI:C0024266"^^xsd:string ; oboInOwl:hasExactSynonym "LCM"@en, "Lymphocytic choriomeningitis virus encephalomyelitis"@en, "Lymphocytic meningitis"@en, "Lymphocytic meningoencephalitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12155"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "lymphocytic choriomeningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_934, obo:DOID_936, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11623 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_10090 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000955 ] . obo:DOID_12156 oboInOwl:hasDbXref "GARD:5839"^^xsd:string, "ICD10CM:G03"^^xsd:string, "MESH:D001100"^^xsd:string, "NCI:C37913"^^xsd:string, "SNOMEDCT_US_2021_03_01:154986008"^^xsd:string, "UMLS_CUI:C0003708"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12156"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "arachnoiditis"^^xsd:string ; rdfs:subClassOf obo:DOID_9471 . obo:DOID_12157 obo:IAO_0000115 "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G03.0"^^xsd:string, "MESH:D008582"^^xsd:string, "NCI:C118299"^^xsd:string, "SNOMEDCT_US_2021_03_01:186490006"^^xsd:string, "UMLS_CUI:C0025290"^^xsd:string ; oboInOwl:hasExactSynonym "acute aseptic meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12157"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "aseptic meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9471, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000061 ] . obo:DOID_12161 oboInOwl:hasDbXref "ICD10CM:H35.4"^^xsd:string, "ICD9CM:362.6"^^xsd:string, "NCI:C34919"^^xsd:string, "SNOMEDCT_US_2021_03_01:193393004"^^xsd:string, "UMLS_CUI:C1320640"^^xsd:string ; oboInOwl:hasExactSynonym "peripheral degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12161"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "peripheral retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_8466 . obo:DOID_12162 oboInOwl:hasDbXref "ICD10CM:H35.45"^^xsd:string, "ICD9CM:362.65"^^xsd:string, "SNOMEDCT_US_2021_03_01:35545005"^^xsd:string, "UMLS_CUI:C0154858"^^xsd:string ; oboInOwl:hasExactSynonym "secondary pigmentary degeneration of retina"@en, "secondary pigmentary retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12162"^^xsd:string ; a owl:Class ; rdfs:label "pseudoretinitis pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12163 oboInOwl:hasDbXref "ICD9CM:362.64"^^xsd:string, "SNOMEDCT_US_2021_03_01:54184008"^^xsd:string, "UMLS_CUI:C0154857"^^xsd:string ; oboInOwl:hasExactSynonym "Senile reticular degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12163"^^xsd:string ; a owl:Class ; rdfs:label "senile reticular retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12164 oboInOwl:hasDbXref "ICD10CM:H35.42"^^xsd:string, "ICD9CM:362.62"^^xsd:string, "SNOMEDCT_US_2021_03_01:37075008"^^xsd:string, "UMLS_CUI:C0154855"^^xsd:string ; oboInOwl:hasExactSynonym "Blessig cysts"@en, "Iwanoff's cysts"@en, "Microcystoid degeneration of retina"@en, "Microcystoid retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12164"^^xsd:string ; a owl:Class ; rdfs:label "Blessig's cysts"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12165 oboInOwl:hasDbXref "ICD10CM:H35.41"^^xsd:string, "ICD9CM:362.63"^^xsd:string, "SNOMEDCT_US_2021_03_01:3577000"^^xsd:string, "UMLS_CUI:C0154856"^^xsd:string ; oboInOwl:hasExactSynonym "Palisade degeneration of retina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12165"^^xsd:string ; a owl:Class ; rdfs:label "retinal lattice degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12166 oboInOwl:hasDbXref "ICD10CM:H35.43"^^xsd:string, "ICD9CM:362.61"^^xsd:string, "SNOMEDCT_US_2021_03_01:69134001"^^xsd:string, "UMLS_CUI:C0154854"^^xsd:string ; oboInOwl:hasExactSynonym "Paving stone degeneration of retina"@en, "Paving stone retinal degeneration"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12166"^^xsd:string ; a owl:Class ; rdfs:label "cobblestone retinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12167 oboInOwl:hasDbXref "ICD10CM:H35.46"^^xsd:string, "ICD9CM:362.66"^^xsd:string, "SNOMEDCT_US_2021_03_01:193397003"^^xsd:string, "UMLS_CUI:C0154859"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12167"^^xsd:string ; a owl:Class ; rdfs:label "secondary vitreoretinal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_12161 . obo:DOID_12168 oboInOwl:hasDbXref "ICD10CM:G56.2"^^xsd:string, "ICD9CM:354.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:55802003"^^xsd:string, "UMLS_CUI:C1288279"^^xsd:string ; oboInOwl:hasExactSynonym "Lesion of ulnar nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12168"^^xsd:string ; a owl:Class ; rdfs:label "ulnar nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_572 . obo:DOID_12169 oboInOwl:hasDbXref "ICD10CM:G56.0"^^xsd:string, "ICD9CM:354.0"^^xsd:string, "MESH:D002349"^^xsd:string, "NCI:C34450"^^xsd:string, "OMIM:115430"^^xsd:string, "SNOMEDCT_US_2021_03_01:193126005"^^xsd:string, "UMLS_CUI:C0007286"^^xsd:string ; oboInOwl:hasExactSynonym "CTS - Carpal tunnel syndrome"@en, "Carpal tunnel syndrome"@en, "Median nerve entrapment"@en, "carpal tunnel median neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12169"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "carpal tunnel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_573 . obo:DOID_1217 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna."^^xsd:string ; oboInOwl:hasDbXref "MESH:D005213"^^xsd:string, "SNOMEDCT_US_2021_03_01:69550000"^^xsd:string, "UMLS_CUI:C0015655"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1217"^^xsd:string ; a owl:Class ; rdfs:label "fascioloidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_12170 oboInOwl:hasDbXref "ICD10CM:G56.3"^^xsd:string, "ICD9CM:354.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:16644004"^^xsd:string, "UMLS_CUI:C0154744"^^xsd:string ; oboInOwl:hasExactSynonym "Lesion of radial nerve"@en, "Radial nerve lesion"@en, "Radial nerve lesions"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12170"^^xsd:string ; a owl:Class ; rdfs:label "radial nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_12171 . obo:DOID_12171 oboInOwl:hasDbXref "MESH:D020425"^^xsd:string, "SNOMEDCT_US_2021_03_01:16644004"^^xsd:string, "UMLS_CUI:C0748226"^^xsd:string ; oboInOwl:hasExactSynonym "Radial neuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12171"^^xsd:string ; a owl:Class ; rdfs:label "radial neuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_1188 . obo:DOID_12175 oboInOwl:hasDbXref "ICD10CM:E07.1"^^xsd:string, "ICD9CM:246.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:190304001"^^xsd:string, "UMLS_CUI:C0152077"^^xsd:string ; oboInOwl:hasExactSynonym "Dyshormonogenic goiter"@en, "Dyshormonogenic goitre"@en, "dyshormonogenic goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12175"^^xsd:string ; a owl:Class ; rdfs:label "dyshormonogenic goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_12176 . obo:DOID_12176 obo:IAO_0000115 "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E04.9"^^xsd:string, "ICD9CM:240.9"^^xsd:string, "MESH:D006042"^^xsd:string, "NCI:C26785"^^xsd:string, "SNOMEDCT_US_2021_03_01:237568003"^^xsd:string, "UMLS_CUI:C0018021"^^xsd:string ; oboInOwl:hasExactSynonym "goitre"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12176"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "goiter"^^xsd:string ; rdfs:subClassOf obo:DOID_50 ; skos:exactMatch "MESH:D006042"^^xsd:string . obo:DOID_12177 obo:IAO_0000115 "An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells."^^xsd:string ; oboInOwl:hasDbXref "GARD:6140"^^xsd:string, "ICD10CM:D83"^^xsd:string, "ICD9CM:279.06"^^xsd:string, "MESH:D017074"^^xsd:string, "OMIM:240500"^^xsd:string, "OMIM:607594"^^xsd:string, "OMIM:613493"^^xsd:string, "OMIM:613494"^^xsd:string, "OMIM:613495"^^xsd:string, "OMIM:613496"^^xsd:string, "OMIM:614699"^^xsd:string, "OMIM:614700"^^xsd:string, "OMIM:615577"^^xsd:string, "OMIM:615767"^^xsd:string, "ORDO:1572"^^xsd:string, "SNOMEDCT_US_2021_03_01:191010004"^^xsd:string, "UMLS_CUI:C0009447"^^xsd:string ; oboInOwl:hasExactSynonym "CVID"@en, "acquired agammaglobulinemia"@en, "acquired hypogammaglobulinemia"@en, "common variable agammaglobulinemia"@en, "sporadic hypogammaglobulinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12177"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "common variable immunodeficiency"^^xsd:string ; rdfs:subClassOf obo:DOID_2583, obo:DOID_417, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0004313 ] . obo:DOID_12179 obo:IAO_0000115 "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:110.5"^^xsd:string, "SNOMEDCT_US_2021_03_01:186994008"^^xsd:string, "UMLS_CUI:C0546826"^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytosis of the body"@en, "Dermatophytosis of the trunk"@en, "dermatophytosis of the body"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12179"^^xsd:string ; a owl:Class ; rdfs:label "tinea corporis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_4890 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000487 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002027 ] . obo:DOID_1218 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.8"^^xsd:string, "MESH:D004451"^^xsd:string, "SNOMEDCT_US_2021_03_01:52918004"^^xsd:string, "UMLS_CUI:C0013514"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Echinochasmus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1218"^^xsd:string ; a owl:Class ; rdfs:label "echinostomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_27847 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12180 oboInOwl:hasExactSynonym "fetal macrosomia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12180"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Fetal Macrosomia"^^xsd:string ; owl:deprecated true . obo:DOID_12185 obo:IAO_0000115 "An otitis interna characterized by an abnormal bone growth in the middle ear."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004213"^^xsd:string, "ICD10CM:H80.80"^^xsd:string, "ICD9CM:387.8"^^xsd:string, "OMIM:166800"^^xsd:string, "OMIM:605727"^^xsd:string, "OMIM:608244"^^xsd:string, "OMIM:608484"^^xsd:string, "OMIM:611571"^^xsd:string, "OMIM:611572"^^xsd:string, "OMIM:612096"^^xsd:string, "OMIM:615589"^^xsd:string, "ORDO:2794"^^xsd:string, "SNOMEDCT_US_2021_03_01:194382008"^^xsd:string, "UMLS_CUI:C0029696"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12185"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "otosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_2952 ; skos:exactMatch "MESH:D010040"^^xsd:string . obo:DOID_12189 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12189"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the colon"^^xsd:string ; owl:deprecated true . obo:DOID_1219 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B66.2"^^xsd:string, "MESH:D004011"^^xsd:string, "SNOMEDCT_US_2021_03_01:8410006"^^xsd:string, "UMLS_CUI:C0012102"^^xsd:string ; oboInOwl:hasExactSynonym "disease due to Dicrocoeliidae"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1219"^^xsd:string ; a owl:Class ; rdfs:label "dicrocoeliasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ] . obo:DOID_12190 oboInOwl:hasDbXref "ICD10CM:C18.6"^^xsd:string, "ICD9CM:153.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:93771007"^^xsd:string, "UMLS_CUI:C0153435"^^xsd:string ; oboInOwl:hasExactSynonym "Ca descending colon"@en, "malignant neoplasm of left colon"@en, "malignant tumor of descending colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12190"^^xsd:string ; a owl:Class ; rdfs:label "descending colon cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_219 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001158 ] ) ] . obo:DOID_12191 oboInOwl:hasDbXref "ICD10CM:C18.5"^^xsd:string, "ICD9CM:153.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:94072004"^^xsd:string, "UMLS_CUI:C0153440"^^xsd:string ; oboInOwl:hasExactSynonym "Ca splenic flexure - colon"@en, "malignant neoplasm of splenic flexure"@en, "malignant tumor of splenic flexure"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12191"^^xsd:string ; a owl:Class ; rdfs:label "splenic flexure cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_12190 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0022276 ] ) ] . obo:DOID_12192 oboInOwl:hasDbXref "ICD10CM:C18.7"^^xsd:string, "ICD9CM:153.3"^^xsd:string, "MESH:D012811"^^xsd:string, "SNOMEDCT_US_2021_03_01:94006002"^^xsd:string, "UMLS_CUI:C0153436"^^xsd:string ; oboInOwl:hasExactSynonym "Ca sigmoid colon"@en, "malignant tumor of sigmoid colon"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12192"^^xsd:string ; a owl:Class ; rdfs:label "sigmoid colon cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_219 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001159 ] ) ] . obo:DOID_12196 oboInOwl:hasDbXref "ICD10CM:H16.10"^^xsd:string, "ICD9CM:370.20"^^xsd:string, "SNOMEDCT_US_2021_03_01:27019000"^^xsd:string, "UMLS_CUI:C0155074"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12196"^^xsd:string ; a owl:Class ; rdfs:label "superficial keratitis"^^xsd:string ; rdfs:subClassOf obo:DOID_4677 . obo:DOID_12197 oboInOwl:hasDbXref "ICD10CM:H16.14"^^xsd:string, "ICD9CM:370.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:193767008"^^xsd:string, "UMLS_CUI:C0259799"^^xsd:string ; oboInOwl:hasExactSynonym "Punctate keratitis"@en, "Thygeson superficial punctate keratitis"@en, "Thygeson's superficial punctate keratitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12197"^^xsd:string ; a owl:Class ; rdfs:label "punctate epithelial keratoconjunctivitis"^^xsd:string ; rdfs:subClassOf obo:DOID_9368 . obo:DOID_122 obo:IAO_0000115 "A cancer by anatomical entitiy that affects the organs in the abdominal cavity."^^xsd:string ; oboInOwl:hasExactSynonym "abdomen neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:122"^^xsd:string ; a owl:Class ; rdfs:label "obsolete abdominal cancer"^^xsd:string ; owl:deprecated true . obo:DOID_12204 oboInOwl:hasExactSynonym "Catatonic schizophrenia in remission (disorder)"@en, "Catatonic type schizophrenia, in remission"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12204"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_12205 obo:IAO_0000115 "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050142"^^xsd:string ; oboInOwl:hasDbXref "GARD:6254"^^xsd:string, "ICD10CM:A90"^^xsd:string, "ICD9CM:061"^^xsd:string, "MESH:D003715"^^xsd:string, "NCI:C34528"^^xsd:string, "SNOMEDCT_US_2021_03_01:38362002"^^xsd:string, "UMLS_CUI:C0011311"^^xsd:string ; oboInOwl:hasExactSynonym "Dengue Fever"@en, "breakbone fever"@en, "classic dengue"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "classical dengue"@en ; oboInOwl:id "DOID:12205"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dengue disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11053 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_12206 obo:IAO_0000115 "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A91"^^xsd:string, "MESH:D019595"^^xsd:string, "NCI:C34683"^^xsd:string, "SNOMEDCT_US_2021_03_01:20927009"^^xsd:string, "UMLS_CUI:C0019100"^^xsd:string ; oboInOwl:hasExactSynonym "DHF"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Dengue haemorrhagic fever"@en ; oboInOwl:id "DOID:12206"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "dengue hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_12205, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000114 ] . obo:DOID_1221 obo:IAO_0000115 "A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1221"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete infiltrative lung tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_12210 obo:IAO_0000115 "A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis."^^xsd:string ; oboInOwl:hasExactSynonym "Bancroftian filariasis"@en, "Infection by Wuchereria bancrofti (disorder)"@en, "Infection due to Wuchereria bancrofti"@en, "Wuchereria bancrofti infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12210"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Wuchereria bancrofti filariasis"^^xsd:string ; owl:deprecated true . obo:DOID_12211 obo:IAO_0000115 "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13433"^^xsd:string ; oboInOwl:hasDbXref "MESH:D004605"^^xsd:string, "NCI:C128360"^^xsd:string, "SNOMEDCT_US_2021_03_01:240820001"^^xsd:string, "UMLS_CUI:C0013884"^^xsd:string ; oboInOwl:hasExactSynonym "Bancroftian elephantiasis"@en, "Bancroftian filarial chyluria"@en, "Elephantiasis of eyelid"@en, "Lymphatic filariasis"@en, "elephantiasis of eyelid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12211"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "filarial elephantiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_1080, obo:DOID_37, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000962 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000263 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000672 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019155 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] . obo:DOID_12215 obo:IAO_0000115 "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12595"^^xsd:string, "DOID:12596"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:O41.0"^^xsd:string, "ICD9CM:658.0"^^xsd:string, "MESH:D016104"^^xsd:string, "NCI:C92839"^^xsd:string, "SNOMEDCT_US_2021_03_01:157051001"^^xsd:string, "UMLS_CUI:C0079924"^^xsd:string ; oboInOwl:hasExactSynonym "Oligohydramnios - delivered"@en, "antepartum oligohydramnios"@en, "delivered oligohydramnios"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12215"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "oligohydramnios"^^xsd:string ; rdfs:subClassOf obo:DOID_780 . obo:DOID_12217 obo:IAO_0000115 "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities."^^xsd:string ; oboInOwl:hasDbXref "GARD:3243"^^xsd:string, "ICD10CM:G31.83"^^xsd:string, "ICD9CM:331.82"^^xsd:string, "MESH:D020961"^^xsd:string, "NCI:C84826"^^xsd:string, "OMIM:127750"^^xsd:string, "SNOMEDCT_US_2021_03_01:192808003"^^xsd:string, "UMLS_CUI:C0752347"^^xsd:string ; oboInOwl:hasExactSynonym "Dementia with Lewy bodies"@en, "Diffuse Lewy body disease"@en, "Lewy body disease"@en, "Senile dementia of the Lewy body type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12217"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Lewy body dementia"^^xsd:string ; rdfs:subClassOf obo:DOID_1307 . obo:DOID_1222 obo:IAO_0000115 "A connective tissue disease that is located_in cartilage."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:M94.9"^^xsd:string, "MESH:D002357"^^xsd:string, "SNOMEDCT_US_2021_03_01:50927007"^^xsd:string, "UMLS_CUI:C0007302"^^xsd:string ; oboInOwl:hasExactSynonym "Cartilage disorder"@en, "Chondropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1222"^^xsd:string ; a owl:Class ; rdfs:label "cartilage disease"^^xsd:string ; rdfs:subClassOf obo:DOID_65 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002418 ] ) ] . obo:DOID_12221 oboInOwl:hasExactSynonym "Synovial, tendon or bursa disorder NOS (disorder)"@en, "Unspecified disorder of synovium, tendon, and bursa"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12221"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Synovial, tendon or bursa disorder"^^xsd:string ; owl:deprecated true . obo:DOID_12223 oboInOwl:hasDbXref "ICD9CM:727.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:42812006"^^xsd:string, "UMLS_CUI:C0158332"^^xsd:string ; oboInOwl:hasExactSynonym "Specific bursitides often of occupational origin"@en, "Specific bursitis often of occupational origin"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12223"^^xsd:string ; a owl:Class ; rdfs:label "specific bursitis often of occupational origin"^^xsd:string ; rdfs:subClassOf obo:DOID_2965 . obo:DOID_12224 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12224"^^xsd:string ; a owl:Class ; rdfs:label "obsolete calcium deposits in tendon and bursa"^^xsd:string ; owl:deprecated true . obo:DOID_12225 oboInOwl:hasDbXref "ICD10CM:M67.5"^^xsd:string, "ICD9CM:727.83"^^xsd:string, "MESH:D013585"^^xsd:string, "UMLS_CUI:C0878705"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12225"^^xsd:string ; a owl:Class ; rdfs:label "Plica syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_381 . obo:DOID_12226 oboInOwl:hasExactSynonym "Auditory dysfunction (disorder)"@en, "Hearing disorder"@en, "Hearing disorder (finding)"@en, "Hearing problem (finding)"@en, "disorder of auditory system (disorder)"@en, "hearing disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12226"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hearing disease"^^xsd:string ; owl:deprecated true . obo:DOID_12228 oboInOwl:hasExactSynonym "secondary malignant neoplasm of large intestine and rectum (disorder)"@en, "secondary malignant neoplasm of large intestine or rectum NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of large intestine and rectum"^^xsd:string ; owl:deprecated true . obo:DOID_12234 oboInOwl:hasDbXref "ICD10CM:K31.2"^^xsd:string, "ICD9CM:537.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:54051005"^^xsd:string, "UMLS_CUI:C0267183"^^xsd:string ; oboInOwl:hasExactSynonym "Hourglass stricture or stenosis of stomach"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12234"^^xsd:string ; a owl:Class ; rdfs:label "cascade stomach"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12236 obo:IAO_0000115 "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1851"^^xsd:string ; oboInOwl:hasDbXref "EFO:0004267"^^xsd:string, "GARD:7459"^^xsd:string, "ICD10CM:K74.3"^^xsd:string, "ICD10CM:K74.5"^^xsd:string, "ICD9CM:571.6"^^xsd:string, "MESH:D008105"^^xsd:string, "NCI:C27167"^^xsd:string, "NCI:C51225"^^xsd:string, "OMIM:109720"^^xsd:string, "OMIM:613007"^^xsd:string, "OMIM:613008"^^xsd:string, "OMIM:614220"^^xsd:string, "OMIM:614221"^^xsd:string, "ORDO:186"^^xsd:string, "SNOMEDCT_US_2021_03_01:1761006"^^xsd:string, "SNOMEDCT_US_2021_03_01:31712002"^^xsd:string, "UMLS_CUI:C0008312"^^xsd:string, "UMLS_CUI:C0023892"^^xsd:string ; oboInOwl:hasExactSynonym "biliary liver cirrhosis"@en, "cholestatic cirrhosis"@en, "chronic nonsuppurative destructive cholangitis"@en, "primary biliary cirrhosis"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12236"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "primary biliary cholangitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0060031, obo:DOID_5082, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0010701 ] . obo:DOID_12237 oboInOwl:hasDbXref "MESH:D001655"^^xsd:string, "UMLS_CUI:C0005403"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12237"^^xsd:string ; a owl:Class ; rdfs:label "bile reflux"^^xsd:string ; rdfs:subClassOf obo:DOID_9741 . obo:DOID_12239 oboInOwl:hasDbXref "ICD10CM:C44.520"^^xsd:string, "NCI:C6925"^^xsd:string, "SNOMEDCT_US_2021_03_01:255084004"^^xsd:string, "UMLS_CUI:C1412037"^^xsd:string ; oboInOwl:hasExactSynonym "Perianal skin squamous cell carcinoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12239"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "anal margin squamous cell carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1749, obo:DOID_4284, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000076 ] . obo:DOID_12241 obo:IAO_0000115 "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin."^^xsd:string ; oboInOwl:hasDbXref "GARD:871"^^xsd:string, "ICD10CM:D56.1"^^xsd:string, "ICD9CM:282.44"^^xsd:string, "MESH:D017086"^^xsd:string, "NCI:C34375"^^xsd:string, "OMIM:613985"^^xsd:string, "ORDO:848"^^xsd:string, "SNOMEDCT_US_2021_03_01:65959000"^^xsd:string, "UMLS_CUI:C0005283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12241"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "beta thalassemia"^^xsd:string ; rdfs:subClassOf obo:DOID_10241 ; skos:narrowMatch "MESH:D017086"^^xsd:string . obo:DOID_12245 obo:IAO_0000115 "A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions."^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasma capsulatum endocarditis"@en, "Histoplasma capsulatum with endocarditis (disorder)"@en, "Histoplasmosis with endocarditis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12245"^^xsd:string ; a owl:Class ; rdfs:label "obsolete histoplasmosis endocarditis"^^xsd:string ; owl:deprecated true . obo:DOID_12246 oboInOwl:hasDbXref "ICD9CM:115.91"^^xsd:string, "SNOMEDCT_US_2021_03_01:187057005"^^xsd:string, "UMLS_CUI:C0153277"^^xsd:string ; oboInOwl:hasExactSynonym "Histoplasmosis with meningitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12246"^^xsd:string ; a owl:Class ; rdfs:label "histoplasmosis meningitis"^^xsd:string ; rdfs:subClassOf obo:DOID_11608 . obo:DOID_12251 oboInOwl:hasExactSynonym "Aldosterone deficiency (disorder)"@en, "hypoaldosteronism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12251"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hypoaldosteronism"^^xsd:string ; owl:deprecated true . obo:DOID_12252 obo:IAO_0000115 "An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12252"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Cushing's syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_12253 oboInOwl:hasDbXref "NCI:C6810"^^xsd:string, "SNOMEDCT_US_2021_03_01:277664004"^^xsd:string, "UMLS_CUI:C0349644"^^xsd:string ; oboInOwl:hasExactSynonym "lymphoma of the testis"@en, "malignant lymphoma of testis"@en, "testicular Lymphoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12253"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_2998, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_12254 oboInOwl:hasExactSynonym "metastatic neoplasm to the testis"@en, "secondary malignant neoplasm of testis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12254"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastatic tumor to the testis"^^xsd:string ; owl:deprecated true . obo:DOID_12255 oboInOwl:hasExactSynonym "Congenital Adrenal hyperplasia"@en, "Congenital adrenal hyperplasia (disorder)"@en, "Congenital adrenal hyperplasia, NOS"@en, "congenital adrenal hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12255"^^xsd:string ; a owl:Class ; rdfs:label "obsolete congenital adrenal hyperplasia"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_12256 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12256"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adrenogenital disease"^^xsd:string ; owl:deprecated true . obo:DOID_12257 oboInOwl:hasDbXref "ICD10CM:E27.5"^^xsd:string, "ICD9CM:255.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:111565003"^^xsd:string, "UMLS_CUI:C0154206"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12257"^^xsd:string ; a owl:Class ; rdfs:label "medulloadrenal hyperfunction"^^xsd:string ; rdfs:subClassOf obo:DOID_9553 . obo:DOID_12258 oboInOwl:hasExactSynonym "acquired factor IX deficiency disease (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12258"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acquired factor IX deficiency"^^xsd:string ; owl:deprecated true . obo:DOID_12259 obo:IAO_0000115 "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait."^^xsd:string ; oboInOwl:hasDbXref "GARD:8732"^^xsd:string, "ICD10CM:D67"^^xsd:string, "ICD9CM:286.1"^^xsd:string, "MESH:D002836"^^xsd:string, "NCI:C26721"^^xsd:string, "OMIM:306900"^^xsd:string, "SNOMEDCT_US_2021_03_01:41788008"^^xsd:string, "UMLS_CUI:C0008533"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital factor IX deficiency"@en, "Congenital factor IX disorder"@en, "deficiency, functional factor IX"@en, "factor IX deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12259"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hemophilia B"^^xsd:string ; rdfs:subClassOf obo:DOID_0080012, obo:DOID_1247, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000149 ] . obo:DOID_12265 oboInOwl:hasDbXref "ICD10CM:N70.1"^^xsd:string, "ICD9CM:614.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:198142001"^^xsd:string, "UMLS_CUI:C0156328"^^xsd:string ; oboInOwl:hasExactSynonym "chronic salpingitis and oophoritis"@en, "chronic salpingitis/oophoritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12265"^^xsd:string ; a owl:Class ; rdfs:label "chronic salpingo-oophoritis"^^xsd:string ; rdfs:subClassOf obo:DOID_10972 . obo:DOID_12268 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12268"^^xsd:string ; a owl:Class ; rdfs:label "obsolete eclampsia with delivery"^^xsd:string ; owl:deprecated true . obo:DOID_12269 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12269"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium"^^xsd:string ; owl:deprecated true . obo:DOID_1227 oboInOwl:hasDbXref "ICD10CM:D70"^^xsd:string, "ICD9CM:288.0"^^xsd:string, "MESH:D009503"^^xsd:string, "SNOMEDCT_US_2021_03_01:191336001"^^xsd:string, "UMLS_CUI:C0027947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1227"^^xsd:string ; a owl:Class ; rdfs:label "neutropenia"^^xsd:string ; rdfs:subClassOf obo:DOID_12987 . obo:DOID_12270 obo:IAO_0000115 "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc."^^xsd:string ; oboInOwl:hasDbXref "GARD:1433"^^xsd:string, "ICD10CM:Q13.0"^^xsd:string, "MESH:D003103"^^xsd:string, "NCI:C98877"^^xsd:string, "OMIM:120200"^^xsd:string, "OMIM:120300"^^xsd:string, "OMIM:216820"^^xsd:string, "ORDO:194"^^xsd:string, "ORDO:98945"^^xsd:string, "SNOMEDCT_US_2021_03_01:93390002"^^xsd:string, "UMLS_CUI:C0009363"^^xsd:string ; oboInOwl:hasExactSynonym "coloboma of eye"@en, "coloboma of macula"@en, "congenital ocular coloboma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "coloboma"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_12271 obo:IAO_0000115 "An iris disease that is characterized by a complete or partial absence of the colored part of the eye."^^xsd:string ; oboInOwl:hasDbXref "GARD:5816"^^xsd:string, "ICD10CM:Q13.1"^^xsd:string, "ICD9CM:743.45"^^xsd:string, "MESH:D015783"^^xsd:string, "NCI:C84563"^^xsd:string, "OMIM:106210"^^xsd:string, "SNOMEDCT_US_2021_03_01:69278003"^^xsd:string, "UMLS_CUI:C0003076"^^xsd:string ; oboInOwl:hasExactSynonym "Aplasia of iris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12271"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "aniridia"^^xsd:string ; rdfs:subClassOf obo:DOID_240 . obo:DOID_12273 oboInOwl:hasDbXref "ICD10CM:H52.31"^^xsd:string, "ICD9CM:367.31"^^xsd:string, "MESH:D015858"^^xsd:string, "SNOMEDCT_US_2021_03_01:3289004"^^xsd:string, "UMLS_CUI:C0003081"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12273"^^xsd:string ; a owl:Class ; rdfs:label "anisometropia"^^xsd:string ; rdfs:subClassOf obo:DOID_9835 ; skos:exactMatch "MESH:D015858"^^xsd:string . obo:DOID_12274 oboInOwl:hasExactSynonym "Anisometropia and aniseikonia (disorder)"@en, "Anisometropia or aniseikonia NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12274"^^xsd:string ; a owl:Class ; rdfs:label "obsolete anisometropia and aniseikonia"^^xsd:string ; owl:deprecated true . obo:DOID_12275 obo:IAO_0000115 "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A36.3"^^xsd:string, "ICD9CM:032.85"^^xsd:string, "NCI:C34544"^^xsd:string, "SNOMEDCT_US_2021_03_01:18901009"^^xsd:string, "UMLS_CUI:C0012555"^^xsd:string ; oboInOwl:hasExactSynonym "Cutaneous Diphtheria"@en, "Cutaneous diphtheria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12275"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cutaneous diphtheria"^^xsd:string ; rdfs:subClassOf obo:DOID_4223 . obo:DOID_12276 oboInOwl:hasDbXref "ICD10CM:C62.0"^^xsd:string, "ICD9CM:186.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:188219004"^^xsd:string, "UMLS_CUI:C0153595"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of retained testis"@en, "malignant neoplasm of undescended testis"@en, "malignant tumor of retained testis"@en, "malignant tumour of retained testis"@en, "malignant tumour of undescended testis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12276"^^xsd:string ; a owl:Class ; rdfs:label "malignant tumor of undescended testis"^^xsd:string ; rdfs:subClassOf obo:DOID_2998 . obo:DOID_1228 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1228"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paranoid type schizophrenia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_12282 oboInOwl:hasDbXref "ICD10CM:I80.1"^^xsd:string, "ICD9CM:451.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:195410000"^^xsd:string, "UMLS_CUI:C0265066"^^xsd:string ; oboInOwl:hasExactSynonym "Phlebitis and thrombophlebitis of femoral vein"@en, "Thrombophlebitis of deep femoral vein"@en, "Thrombophlebitis of the femoral vein"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12282"^^xsd:string ; a owl:Class ; rdfs:label "femoral vein thrombophlebitis"^^xsd:string ; rdfs:subClassOf obo:DOID_3875, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000356 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_3875 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001361 ] ) ] . obo:DOID_12284 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12284"^^xsd:string ; a owl:Class ; rdfs:label "obsolete maternal pyrexia in labor"^^xsd:string ; owl:deprecated true . obo:DOID_12286 oboInOwl:hasDbXref "NCI:C9277"^^xsd:string, "UMLS_CUI:C1336711"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12286"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "testicular leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2998 . obo:DOID_12287 obo:IAO_0000115 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:A98.0"^^xsd:string, "ICD9CM:065.0"^^xsd:string, "MESH:D006479"^^xsd:string, "NCI:C34682"^^xsd:string, "SNOMEDCT_US_2021_03_01:43489008"^^xsd:string, "UMLS_CUI:C0019099"^^xsd:string ; oboInOwl:hasExactSynonym "CHF Congo virus"@en, "Congo-Crimean Hemorrhagic Fever"@en, "Crimean hemorrhagic fever"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12287"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:tick-borne_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "Crimean-Congo hemorrhagic fever"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_1980519 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:NCBITaxon_34625 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000006 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000539 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000760 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_1229 obo:IAO_0000115 "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11238"^^xsd:string, "DOID:1230"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F20.0"^^xsd:string, "ICD9CM:295.3"^^xsd:string, "ICD9CM:295.32"^^xsd:string, "MESH:D012563"^^xsd:string, "NCI:C35006"^^xsd:string, "SNOMEDCT_US_2021_03_01:154865007"^^xsd:string, "SNOMEDCT_US_2021_03_01:191553009"^^xsd:string, "UMLS_CUI:C0036349"^^xsd:string, "UMLS_CUI:C0270398"^^xsd:string ; oboInOwl:hasExactSynonym "Paranoid type schizophrenia"@en, "Paraphrenia - late"@en, "Paraphrenic schizophrenia"@en, "chronic paranoid schizophrenia"@en, "paranoid type schizophrenia subchronic state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1229"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paranoid schizophrenia"^^xsd:string ; rdfs:subClassOf obo:DOID_5419, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000607 ] . obo:DOID_12292 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12292"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent malignant endocervical neoplasm"^^xsd:string ; owl:deprecated true . obo:DOID_12294 obo:IAO_0000115 "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F32.89"^^xsd:string, "ICD9CM:296.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:277538003"^^xsd:string, "UMLS_CUI:C0154437"^^xsd:string ; oboInOwl:hasExactSynonym "Atypical depression"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12294"^^xsd:string ; a owl:Class ; rdfs:label "atypical depressive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_3324, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000030 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000582 ] . obo:DOID_12297 obo:IAO_0000115 "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7862"^^xsd:string, "ICD10CM:H20.82"^^xsd:string, "ICD9CM:364.24"^^xsd:string, "MESH:D014607"^^xsd:string, "NCI:C85218"^^xsd:string, "SNOMEDCT_US_2021_03_01:44923005"^^xsd:string, "UMLS_CUI:C0042170"^^xsd:string ; oboInOwl:hasExactSynonym "Harada's disease"@en, "Vogt-Koyanagi syndrome"@en, "uveomeningoencephalitic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12297"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Vogt-Koyanagi-Harada disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019173 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] . obo:DOID_12298 oboInOwl:hasDbXref "ICD9CM:155.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:187777008"^^xsd:string, "UMLS_CUI:C0546835"^^xsd:string ; oboInOwl:hasExactSynonym "Ca intrahepatic bile ducts"@en, "malignant neoplasm of intrahepatic bile ducts"@en, "malignant neoplasm of intrahepatic biliary passages"@en, "malignant neoplasm of intrahepatic gall duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12298"^^xsd:string ; a owl:Class ; rdfs:label "intrahepatic gall duct cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_3121 . obo:DOID_12301 oboInOwl:hasExactSynonym "Naevus spilus"@en, "Speckled lentiginous naevus"@en, "nevus spilus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12301"^^xsd:string ; a owl:Class ; rdfs:label "obsolete speckled lentiginous nevus"^^xsd:string ; owl:deprecated true . obo:DOID_12302 obo:IAO_0000115 "A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils."^^xsd:string ; oboInOwl:hasExactSynonym "Faucial Diphtheria"@en, "Faucial diphtheria"@en, "Faucial diphtheria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12302"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete diphtheritic membranous angina"^^xsd:string ; owl:deprecated true . obo:DOID_12304 oboInOwl:hasDbXref "ICD10CM:H11.13"^^xsd:string, "ICD9CM:372.55"^^xsd:string, "SNOMEDCT_US_2021_03_01:267645009"^^xsd:string, "UMLS_CUI:C0155163"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12304"^^xsd:string ; a owl:Class ; rdfs:label "conjunctival pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_12305 oboInOwl:hasDbXref "ICD10CM:Q82.3"^^xsd:string, "MESH:D007184"^^xsd:string, "NCI:C84787"^^xsd:string, "OMIM:308300"^^xsd:string, "SNOMEDCT_US_2021_03_01:205567005"^^xsd:string, "UMLS_CUI:C0021171"^^xsd:string ; oboInOwl:hasExactSynonym "Incontinentia pigmenti"@en, "Incontinentia pigmenti syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12305"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Bloch-Sulzberger syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_12306 obo:IAO_0000115 "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004208"^^xsd:string, "GARD:10751"^^xsd:string, "ICD10CM:L80"^^xsd:string, "ICD9CM:709.01"^^xsd:string, "MESH:D014820"^^xsd:string, "NCI:C26915"^^xsd:string, "OMIM:193200"^^xsd:string, "SNOMEDCT_US_2021_03_01:156437000"^^xsd:string, "UMLS_CUI:C0042900"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12306"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "vitiligo"^^xsd:string ; rdfs:subClassOf obo:DOID_0060039, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:intersectionOf (obo:UBERON_0000014 obo:UBERON_0002384 ) ] ] . obo:DOID_12307 oboInOwl:hasDbXref "ICD10CM:H18.01"^^xsd:string, "ICD9CM:371.11"^^xsd:string, "SNOMEDCT_US_2021_03_01:18377001"^^xsd:string, "UMLS_CUI:C0155104"^^xsd:string ; oboInOwl:hasExactSynonym "Anterior corneal pigmentations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12307"^^xsd:string ; a owl:Class ; rdfs:label "anterior corneal pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_11547 . obo:DOID_12308 obo:IAO_0000115 "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile."^^xsd:string ; oboInOwl:hasDbXref "GARD:6289"^^xsd:string, "ICD10CM:E80.6"^^xsd:string, "MESH:D007566"^^xsd:string, "NCI:C34741"^^xsd:string, "OMIM:237500"^^xsd:string, "SNOMEDCT_US_2021_03_01:44553005"^^xsd:string, "UMLS_CUI:C0022350"^^xsd:string ; oboInOwl:hasExactSynonym "Dubin Johnson syndrome"@en, "chronic idiopathic jaundice"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12308"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Dubin-Johnson syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_2741 . obo:DOID_12309 oboInOwl:hasDbXref "ICD10CM:D47.01"^^xsd:string, "MESH:D014582"^^xsd:string, "NCI:C3433"^^xsd:string, "SNOMEDCT_US_2021_03_01:205566001"^^xsd:string, "UMLS_CUI:C0042111"^^xsd:string ; oboInOwl:hasExactSynonym "UP/MPCM"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12309"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "urticaria pigmentosa"^^xsd:string ; rdfs:subClassOf obo:DOID_3663 ; skos:exactMatch "MESH:D014582"^^xsd:string . obo:DOID_1231 oboInOwl:hasExactSynonym "chronic Schizophrenia"@en, "chronic schizophrenia (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1231"^^xsd:string ; a owl:Class ; rdfs:label "obsolete chronic schizophrenia"^^xsd:string ; owl:deprecated true . obo:DOID_12311 oboInOwl:hasDbXref "ICD10CM:H18.06"^^xsd:string, "ICD9CM:371.12"^^xsd:string, "SNOMEDCT_US_2021_03_01:55031000"^^xsd:string, "UMLS_CUI:C0155105"^^xsd:string ; oboInOwl:hasExactSynonym "Stromal corneal pigmentations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12311"^^xsd:string ; a owl:Class ; rdfs:label "stromal corneal pigmentation"^^xsd:string ; rdfs:subClassOf obo:DOID_10123 . obo:DOID_12318 obo:IAO_0000115 "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H18.53"^^xsd:string, "ICD9CM:371.53"^^xsd:string, "MESH:D003317"^^xsd:string, "NCI:C34651"^^xsd:string, "SNOMEDCT_US_2021_03_01:45283008"^^xsd:string, "UMLS_CUI:C0018179"^^xsd:string ; oboInOwl:hasExactSynonym "granular corneal dystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12318"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "granular corneal dystrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_0060441, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_1232 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1232"^^xsd:string ; a owl:Class ; rdfs:label "obsolete paranoid type schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_12323 obo:IAO_0000115 "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J45.991"^^xsd:string, "ICD9CM:493.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:409663006"^^xsd:string, "UMLS_CUI:C0694548"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12323"^^xsd:string ; a owl:Class ; rdfs:label "cough variant asthma"^^xsd:string ; rdfs:subClassOf obo:DOID_0080809, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_12324 oboInOwl:hasExactSynonym "Trans-sexualism with homosexual history"@en, "Transsexuality with homosexual history (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12324"^^xsd:string ; a owl:Class ; rdfs:label "obsolete transsexuality with homosexual history"^^xsd:string ; owl:deprecated true . obo:DOID_12325 oboInOwl:hasDbXref "ICD10CM:I27.1"^^xsd:string, "ICD9CM:416.1"^^xsd:string, "SNOMEDCT_US_2021_03_01:194886003"^^xsd:string, "UMLS_CUI:C0152102"^^xsd:string ; oboInOwl:hasExactSynonym "Kyphoscoliotic heart disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12325"^^xsd:string ; a owl:Class ; rdfs:label "kyphoscoliotic heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_12326 . obo:DOID_12326 oboInOwl:hasDbXref "ICD9CM:416.8"^^xsd:string, "SNOMEDCT_US_2021_03_01:194887007"^^xsd:string, "UMLS_CUI:C0155673"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12326"^^xsd:string ; a owl:Class ; rdfs:label "chronic pulmonary heart disease"^^xsd:string ; rdfs:subClassOf obo:DOID_8515 . obo:DOID_12328 obo:IAO_0000115 "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E41"^^xsd:string, "ICD9CM:261"^^xsd:string, "MESH:D011502"^^xsd:string, "SNOMEDCT_US_2021_03_01:154730001"^^xsd:string, "UMLS_CUI:C0086588"^^xsd:string ; oboInOwl:hasExactSynonym "Nutritional atrophy"@en, "Nutritional marasmus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12328"^^xsd:string ; a owl:Class ; rdfs:label "marasmus"^^xsd:string ; rdfs:subClassOf obo:DOID_11801, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019180 ] . obo:DOID_1233 oboInOwl:hasDbXref "ICD10CM:F64.1"^^xsd:string, "ICD9CM:302.3"^^xsd:string, "MESH:D014190"^^xsd:string, "NCI:C94359"^^xsd:string, "SNOMEDCT_US_2021_03_01:472948001"^^xsd:string, "UMLS_CUI:C0040774"^^xsd:string ; oboInOwl:hasExactSynonym "Dual-role transvestism"@en, "Fetishistic transvestism"@en, "Transvestic fetishism"@en, "cross dresser"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1233"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "transvestism"^^xsd:string ; rdfs:subClassOf obo:DOID_1235 . obo:DOID_12332 oboInOwl:hasDbXref "MESH:D006398"^^xsd:string, "SNOMEDCT_US_2021_03_01:66259004"^^xsd:string, "UMLS_CUI:C0018931"^^xsd:string ; oboInOwl:hasExactSynonym "Hematocele"@en, "male hematocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12332"^^xsd:string ; a owl:Class ; rdfs:label "hematocele of tunica vaginalis testis"^^xsd:string ; rdfs:subClassOf obo:DOID_2519, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000473 ] . obo:DOID_12333 oboInOwl:hasDbXref "ICD9CM:608.85"^^xsd:string, "SNOMEDCT_US_2021_03_01:198064007"^^xsd:string, "UMLS_CUI:C0156316"^^xsd:string ; oboInOwl:hasExactSynonym "Stricture of male genital organs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12333"^^xsd:string ; a owl:Class ; rdfs:label "male genital organ stricture"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_12335 oboInOwl:hasDbXref "ICD10CM:N50.1"^^xsd:string, "ICD9CM:608.83"^^xsd:string, "SNOMEDCT_US_2021_03_01:198057005"^^xsd:string, "UMLS_CUI:C0042374"^^xsd:string ; oboInOwl:hasExactSynonym "vascular disorder of male genital organs"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12335"^^xsd:string ; a owl:Class ; rdfs:label "male genital organ vascular disease"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_12336 oboInOwl:hasDbXref "ICD10CM:N46"^^xsd:string, "ICD9CM:606"^^xsd:string, "MESH:D007248"^^xsd:string, "SNOMEDCT_US_2021_03_01:155924001"^^xsd:string, "UMLS_CUI:C0021364"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12336"^^xsd:string ; a owl:Class ; rdfs:label "male infertility"^^xsd:string ; rdfs:subClassOf obo:DOID_48 . obo:DOID_12337 oboInOwl:hasDbXref "ICD10CM:I86.1"^^xsd:string, "ICD9CM:456.4"^^xsd:string, "MESH:D014646"^^xsd:string, "SNOMEDCT_US_2021_03_01:195480007"^^xsd:string, "UMLS_CUI:C0042341"^^xsd:string ; oboInOwl:hasExactSynonym "Scrotal varices"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12337"^^xsd:string ; a owl:Class ; rdfs:label "varicocele"^^xsd:string ; rdfs:subClassOf obo:DOID_9742, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0005352 ] . obo:DOID_12338 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12338"^^xsd:string ; a owl:Class ; rdfs:label "obsolete redundant prepuce and phimosis"^^xsd:string ; owl:deprecated true . obo:DOID_12339 oboInOwl:hasDbXref "NCI:C7353"^^xsd:string, "UMLS_CUI:C1335779"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12339"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal lymphoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060058, obo:DOID_5875, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:CL_0000542 ] . obo:DOID_1234 obo:IAO_0000115 "A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:10919" ; oboInOwl:hasDbXref "ICD10CM:F64.2"^^xsd:string, "ICD9CM:302.50", "ICD9CM:302.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:191782007", "SNOMEDCT_US_2021_03_01:5095008"^^xsd:string, "UMLS_CUI:C0040630", "UMLS_CUI:C0236802"^^xsd:string ; oboInOwl:hasExactSynonym "gender dysphoria", "gender identify disorder", "transsexualism" ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1234"^^xsd:string ; a owl:Class ; rdfs:label "gender incongruence"^^xsd:string ; rdfs:subClassOf obo:DOID_0060043 . obo:DOID_12341 obo:IAO_0000115 "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space."^^xsd:string ; oboInOwl:hasDbXref "NCI:C4832"^^xsd:string, "SNOMEDCT_US_2021_03_01:307219002"^^xsd:string, "UMLS_CUI:C0585129"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12341"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneal sarcoma"^^xsd:string ; rdfs:subClassOf obo:DOID_5875 . obo:DOID_12342 oboInOwl:hasDbXref "NCI:C7352"^^xsd:string, "UMLS_CUI:C0948749"^^xsd:string ; oboInOwl:hasExactSynonym "carcinoma of Retroperitoneum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "carcinoma of the retroperitoneum"@en ; oboInOwl:id "DOID:12342"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retroperitoneum carcinoma"^^xsd:string ; rdfs:subClassOf obo:DOID_305, obo:DOID_5875, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000066 ] . obo:DOID_12346 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "hyperkinetic heart disease"@en ; oboInOwl:id "DOID:12346"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hyperkinetic heart syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_12347 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14708"^^xsd:string ; oboInOwl:hasDbXref "GARD:1017"^^xsd:string, "ICD10CM:Q78.0"^^xsd:string, "ICD9CM:756.51"^^xsd:string, "MESH:D010013"^^xsd:string, "NCI:C26837"^^xsd:string, "OMIM:PS166200"^^xsd:string, "ORDO:666"^^xsd:string, "SNOMEDCT_US_2021_03_01:254109004"^^xsd:string, "UMLS_CUI:C0029434"^^xsd:string ; oboInOwl:hasExactSynonym "Lobstein's syndrome"@en, "Osteopsathyrosis"@en, "Vrolik's disease"@en, "brittle bone disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Fragilitas ossium"@en ; oboInOwl:id "DOID:12347"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "osteogenesis imperfecta"^^xsd:string ; rdfs:subClassOf obo:DOID_2256 . obo:DOID_12349 oboInOwl:hasDbXref "ICD10CM:H44.44"^^xsd:string, "ICD9CM:360.31"^^xsd:string, "SNOMEDCT_US_2021_03_01:2251002"^^xsd:string, "UMLS_CUI:C0154782"^^xsd:string ; oboInOwl:hasExactSynonym "primary hypotony of eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12349"^^xsd:string ; a owl:Class ; rdfs:label "primary eye hypotony"^^xsd:string ; rdfs:subClassOf obo:DOID_790 . obo:DOID_1235 oboInOwl:hasDbXref "ICD10CM:F65.0"^^xsd:string, "ICD9CM:302.81"^^xsd:string, "MESH:D005329"^^xsd:string, "NCI:C94353"^^xsd:string, "SNOMEDCT_US_2021_03_01:192513009"^^xsd:string, "UMLS_CUI:C0015957"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1235"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "fetishism"^^xsd:string ; rdfs:subClassOf obo:DOID_0060044 . obo:DOID_12351 oboInOwl:hasAlternativeId "DOID:12350"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:571.1"^^xsd:string, "NCI:C34352"^^xsd:string, "SNOMEDCT_US_2021_03_01:9953008"^^xsd:string, "UMLS_CUI:C0001306"^^xsd:string ; oboInOwl:hasExactSynonym "Alcoholic Hepatitis"@en, "Alcoholic hepatitis"@en, "acute Alcoholic Hepatitis"@en, "acute alcoholic hepatitis"@en, "acute alcoholic liver disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12351"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "alcoholic hepatitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2237, [ a owl:Restriction ; owl:onProperty obo:RO_0002241 ; owl:someValuesFrom obo:CHEBI_30879 ] . obo:DOID_12355 oboInOwl:hasDbXref "ICD10CM:N41.3"^^xsd:string, "ICD9CM:601.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:67685000"^^xsd:string, "UMLS_CUI:C0156291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12355"^^xsd:string ; a owl:Class ; rdfs:label "prostatocystitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1679 . obo:DOID_12356 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12356"^^xsd:string ; a owl:Class ; rdfs:label "obsolete bacterial prostatitis"^^xsd:string ; owl:deprecated true . obo:DOID_12357 obo:IAO_0000115 "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:386.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:34243007"^^xsd:string, "UMLS_CUI:C0155508"^^xsd:string ; oboInOwl:hasExactSynonym "Epidemic vertigo"@en, "Viral labyrinthitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12357"^^xsd:string ; a owl:Class ; rdfs:label "viral labyrinthitis"^^xsd:string ; rdfs:subClassOf obo:DOID_1468, obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12358 obo:IAO_0000115 "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:10812"^^xsd:string, "ICD10CM:H69.0"^^xsd:string, "ICD9CM:381.7"^^xsd:string, "SNOMEDCT_US_2021_03_01:30280005"^^xsd:string, "UMLS_CUI:C0155434"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12358"^^xsd:string ; a owl:Class ; rdfs:label "patulous eustachian tube"^^xsd:string ; rdfs:subClassOf obo:DOID_9739 . obo:DOID_12359 oboInOwl:hasDbXref "ICD9CM:376.2"^^xsd:string, "SNOMEDCT_US_2021_03_01:53061005"^^xsd:string, "UMLS_CUI:C0155264"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12359"^^xsd:string ; a owl:Class ; rdfs:label "endocrine exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12360 oboInOwl:hasDbXref "ICD10CM:H05.21"^^xsd:string, "ICD9CM:376.36"^^xsd:string, "SNOMEDCT_US_2021_03_01:48747004"^^xsd:string, "UMLS_CUI:C0155272"^^xsd:string ; oboInOwl:hasExactSynonym "Lateral displacement of globe"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12360"^^xsd:string ; a owl:Class ; rdfs:label "lateral displacement of eye"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12361 obo:IAO_0000115 "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland."^^xsd:string ; oboInOwl:hasDbXref "EFO:0004237"^^xsd:string, "ICD10CM:E05.0"^^xsd:string, "MESH:D006111"^^xsd:string, "NCI:C3071"^^xsd:string, "SNOMEDCT_US_2021_03_01:154655004"^^xsd:string, "UMLS_CUI:C0018213"^^xsd:string ; oboInOwl:hasExactSynonym "Grave's disease"@en, "Graves disease"@en, "exophthalmic goiter"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Basedow's disease"@en ; oboInOwl:id "DOID:12361"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "Graves' disease"^^xsd:string ; rdfs:subClassOf obo:DOID_0060005 . obo:DOID_12362 oboInOwl:hasDbXref "ICD9CM:376.21"^^xsd:string, "SNOMEDCT_US_2021_03_01:19885005"^^xsd:string, "UMLS_CUI:C0155265"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12362"^^xsd:string ; a owl:Class ; rdfs:label "thyrotoxic exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_12359 . obo:DOID_12363 oboInOwl:hasDbXref "ICD10CM:H05.25"^^xsd:string, "ICD9CM:376.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:49774006"^^xsd:string, "UMLS_CUI:C0155270"^^xsd:string ; oboInOwl:hasExactSynonym "Intermittent exophthalmos"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12363"^^xsd:string ; a owl:Class ; rdfs:label "intermittent proptosis"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12364 oboInOwl:hasDbXref "ICD10CM:H05.26"^^xsd:string, "ICD9CM:376.35"^^xsd:string, "SNOMEDCT_US_2021_03_01:2284002"^^xsd:string, "UMLS_CUI:C0155271"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12364"^^xsd:string ; a owl:Class ; rdfs:label "pulsating exophthalmos"^^xsd:string ; rdfs:subClassOf obo:DOID_930 . obo:DOID_12365 obo:IAO_0000115 "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12552"^^xsd:string ; oboInOwl:hasDbXref "EFO:0001068"^^xsd:string, "GARD:6961"^^xsd:string, "ICD10CM:B54"^^xsd:string, "ICD9CM:084"^^xsd:string, "MESH:D008288"^^xsd:string, "NCI:C34797"^^xsd:string, "SNOMEDCT_US_2021_03_01:154374002"^^xsd:string, "UMLS_CUI:C0024530"^^xsd:string ; oboInOwl:hasExactSynonym "induced malaria"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12365"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "malaria"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5820 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2789 [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5820 ] ) ] . obo:DOID_12369 obo:IAO_0000115 "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.0"^^xsd:string, "ICD9CM:618.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:12068006"^^xsd:string, "UMLS_CUI:C0238502"^^xsd:string ; oboInOwl:hasExactSynonym "Urethrocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12369"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "prolapse of urethra"^^xsd:string ; rdfs:subClassOf obo:DOID_1284, obo:DOID_732, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000057 ] . obo:DOID_1237 oboInOwl:hasDbXref "ICD10CM:H18.4"^^xsd:string, "ICD9CM:371.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:111521006"^^xsd:string, "UMLS_CUI:C0155118"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1237"^^xsd:string ; a owl:Class ; rdfs:label "corneal degeneration"^^xsd:string ; rdfs:subClassOf obo:DOID_10124, obo:DOID_9799 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_9799 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000964 ] ) ] . obo:DOID_12375 obo:IAO_0000115 "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J18.0"^^xsd:string, "ICD9CM:485"^^xsd:string, "MESH:D001996"^^xsd:string, "NCI:C26710"^^xsd:string, "SNOMEDCT_US_2021_03_01:155551009"^^xsd:string, "UMLS_CUI:C0006285"^^xsd:string ; oboInOwl:hasExactSynonym "Chest infection - bronchopneumonia"@en, "bronchial pneumonia"@en, "lobular pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12375"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bronchopneumonia"^^xsd:string ; rdfs:subClassOf obo:DOID_552, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019168 ] . obo:DOID_12376 obo:IAO_0000115 "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13161"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:335.11"^^xsd:string, "MESH:D014897"^^xsd:string, "NCI:C118847"^^xsd:string, "OMIM:253400"^^xsd:string, "SNOMEDCT_US_2021_03_01:54280009"^^xsd:string, "UMLS_CUI:C0152109"^^xsd:string ; oboInOwl:hasExactSynonym "Kugelberg-Welander disease"@en, "SMA3"@en, "Spinal Muscular Atrophy Type 3"^^xsd:string, "Type III Spinal Muscular Atrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12376"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "juvenile spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_0060160, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_12377 obo:IAO_0000115 "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy."^^xsd:string ; oboInOwl:hasDbXref "GARD:7674"^^xsd:string, "ICD10CM:G12.9"^^xsd:string, "ICD9CM:335.1"^^xsd:string, "MESH:D009134"^^xsd:string, "NCI:C85075"^^xsd:string, "SNOMEDCT_US_2021_03_01:5262007"^^xsd:string, "UMLS_CUI:C0026847"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12377"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "spinal muscular atrophy"^^xsd:string ; rdfs:subClassOf obo:DOID_231, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000094 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000363 ] . obo:DOID_12378 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12378"^^xsd:string ; a owl:Class ; rdfs:label "obsolete predominant psychomotor disturbance"^^xsd:string ; owl:deprecated true . obo:DOID_12379 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12379"^^xsd:string ; a owl:Class ; rdfs:label "obsolete mixed disorder as reaction to stress"^^xsd:string ; owl:deprecated true . obo:DOID_1238 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1238"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute erythremia and erythroleukemia in remission"^^xsd:string ; owl:deprecated true . obo:DOID_12380 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12380"^^xsd:string ; a owl:Class ; rdfs:label "obsolete predominant disturbance of consciousness"^^xsd:string ; owl:deprecated true . obo:DOID_12382 oboInOwl:hasDbXref "MESH:D017029"^^xsd:string, "SNOMEDCT_US_2021_03_01:307358009"^^xsd:string, "UMLS_CUI:C0085417"^^xsd:string ; oboInOwl:hasExactSynonym "Complex partial epileptic seizure"@en, "Psychomotor epilepsy"@en, "epilepsy, psychomotor"@en, "psychomotor epilepsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12382"^^xsd:string ; a owl:Class ; rdfs:label "complex partial epilepsy"^^xsd:string ; rdfs:subClassOf obo:DOID_2234 . obo:DOID_12384 obo:IAO_0000115 "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:009.2"^^xsd:string, "MESH:D004403"^^xsd:string, "SNOMEDCT_US_2021_03_01:154268000"^^xsd:string, "UMLS_CUI:C0013369"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious diarrhea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12384"^^xsd:string ; a owl:Class ; rdfs:label "dysentery"^^xsd:string ; rdfs:subClassOf obo:DOID_100, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] . obo:DOID_12385 obo:IAO_0000115 "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11378"^^xsd:string, "DOID:12950"^^xsd:string, "DOID:2041"^^xsd:string, "DOID:924"^^xsd:string, "DOID:925"^^xsd:string ; oboInOwl:hasDbXref "GARD:4818"^^xsd:string, "ICD10CM:A03"^^xsd:string, "ICD10CM:A03.0"^^xsd:string, "ICD10CM:A03.1"^^xsd:string, "ICD10CM:A03.2"^^xsd:string, "ICD9CM:004"^^xsd:string, "ICD9CM:004.0"^^xsd:string, "ICD9CM:004.1"^^xsd:string, "ICD9CM:004.2"^^xsd:string, "KEGG:05131"^^xsd:string, "MESH:D004405"^^xsd:string, "NCI:C157978"^^xsd:string, "SNOMEDCT_US_2021_03_01:111817006"^^xsd:string, "SNOMEDCT_US_2021_03_01:34335000"^^xsd:string, "SNOMEDCT_US_2021_03_01:55760004"^^xsd:string, "SNOMEDCT_US_2021_03_01:66301008"^^xsd:string, "UMLS_CUI:C0013371"^^xsd:string, "UMLS_CUI:C0302358"^^xsd:string, "UMLS_CUI:C0302359"^^xsd:string, "UMLS_CUI:C0302360"^^xsd:string ; oboInOwl:hasExactSynonym "Shigella boydii infectious disease"@en, "Shigella flexneri infectious disease"@en, "Shigella gastroenteritis"@en, "Shigella sonnei infectious disease"@en, "bacillary dysentery"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12385"^^xsd:string ; a owl:Class ; rdfs:label "shigellosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050338, obo:DOID_5353, [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000012 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_104 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001155 ] ) ] . obo:DOID_12386 obo:IAO_0000115 "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath."^^xsd:string ; oboInOwl:hasDbXref "GARD:809"^^xsd:string, "ICD10CM:A07.0"^^xsd:string, "ICD9CM:007.0"^^xsd:string, "MESH:D001447"^^xsd:string, "NCI:C84583"^^xsd:string, "SNOMEDCT_US_2021_03_01:57725006"^^xsd:string, "UMLS_CUI:C0004692"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12386"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "balantidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2789, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000001 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; skos:exactMatch "MESH:D001447"^^xsd:string . obo:DOID_12387 obo:IAO_0000115 "A kidney disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH)."^^xsd:string ; oboInOwl:hasDbXref "GARD:7178"^^xsd:string, "ICD10CM:N25.1"^^xsd:string, "ICD9CM:588.1"^^xsd:string, "MESH:D018500"^^xsd:string, "NCI:C84919"^^xsd:string, "OMIM:125800"^^xsd:string, "OMIM:304800"^^xsd:string, "ORDO:223"^^xsd:string, "SNOMEDCT_US_2021_03_01:123294004"^^xsd:string, "UMLS_CUI:C0162283"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "vasopressin-resistant diabetes insipidus"@en ; oboInOwl:id "DOID:12387"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "nephrogenic diabetes insipidus"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_12388 oboInOwl:hasDbXref "MESH:D020790"^^xsd:string, "NCI:C84933"^^xsd:string, "OMIM:125700"^^xsd:string, "OMIM:304900"^^xsd:string, "SNOMEDCT_US_2021_03_01:267393007"^^xsd:string, "UMLS_CUI:C0687720"^^xsd:string ; oboInOwl:hasExactSynonym "Pituitary diabetes insipidus"@en, "Vasopressin deficiency"@en, "central diabetes insipidus"@en, "vasopressin defective diabetes insipidus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12388"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "neurohypophyseal diabetes insipidus"^^xsd:string ; rdfs:subClassOf obo:DOID_26, [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001264 ] ) ] . obo:DOID_1239 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1239"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute erythremia and erythroleukemia"^^xsd:string ; owl:deprecated true . obo:DOID_12392 oboInOwl:hasExactSynonym "Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck"@en, "Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder)"@en, "Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12392"^^xsd:string ; a owl:Class ; rdfs:label "obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck"^^xsd:string ; owl:deprecated true . obo:DOID_12395 oboInOwl:hasDbXref "ICD9CM:374.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:20828000"^^xsd:string, "UMLS_CUI:C0155190"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12395"^^xsd:string ; a owl:Class ; rdfs:label "spastic entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_12397 . obo:DOID_12396 oboInOwl:hasExactSynonym "Entropion and trichiasis of eyelid (disorder)"@en, "Entropion or trichiasis of eyelid NOS (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12396"^^xsd:string ; a owl:Class ; rdfs:label "obsolete entropion and trichiasis of eyelid"^^xsd:string ; owl:deprecated true . obo:DOID_12397 oboInOwl:hasAlternativeId "DOID:14446"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:374.00"^^xsd:string, "MESH:D004774"^^xsd:string, "SNOMEDCT_US_2021_03_01:246821008"^^xsd:string, "UMLS_CUI:C0014390"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12397"^^xsd:string ; a owl:Class ; rdfs:label "entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_530 . obo:DOID_12399 obo:IAO_0000115 "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.0"^^xsd:string, "ICD9CM:312.31"^^xsd:string, "MESH:D005715"^^xsd:string, "NCI:C94335"^^xsd:string, "OMIM:606349"^^xsd:string, "SNOMEDCT_US_2021_03_01:18085000"^^xsd:string, "UMLS_CUI:C0030662"^^xsd:string ; oboInOwl:hasExactSynonym "Compulsive gambling"@en, "Pathological gambling"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12399"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pathological gambling"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_1240 obo:IAO_0000115 "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9145"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C95.90"^^xsd:string, "ICD9CM:208"^^xsd:string, "ICDO:9800/3"^^xsd:string, "MESH:D007938"^^xsd:string, "NCI:C3161"^^xsd:string, "SNOMEDCT_US_2021_03_01:255049003"^^xsd:string, "UMLS_CUI:C0023418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1240"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2531 . obo:DOID_12400 obo:IAO_0000115 "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.2"^^xsd:string, "ICD9CM:312.32"^^xsd:string, "MESH:D007174"^^xsd:string, "NCI:C94333"^^xsd:string, "SNOMEDCT_US_2021_03_01:69361009"^^xsd:string, "UMLS_CUI:C0022734"^^xsd:string ; oboInOwl:hasExactSynonym "Pathological stealing"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12400"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "kleptomania"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_12401 obo:IAO_0000115 "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:9404"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F60.3"^^xsd:string, "ICD10CM:F63.81"^^xsd:string, "ICD9CM:301.3"^^xsd:string, "ICD9CM:312.34"^^xsd:string, "MESH:D007174"^^xsd:string, "NCI:C94332"^^xsd:string, "SNOMEDCT_US_2021_03_01:192096007"^^xsd:string, "SNOMEDCT_US_2021_03_01:268757006"^^xsd:string, "UMLS_CUI:C0021776"^^xsd:string, "UMLS_CUI:C0152183"^^xsd:string ; oboInOwl:hasExactSynonym "explosive personality disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12401"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermittent explosive disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_12402 obo:IAO_0000115 "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F63.1"^^xsd:string, "ICD9CM:312.33"^^xsd:string, "MESH:D005391"^^xsd:string, "NCI:C94334"^^xsd:string, "SNOMEDCT_US_2021_03_01:600009"^^xsd:string, "UMLS_CUI:C0016142"^^xsd:string ; oboInOwl:hasExactSynonym "Pathological firesetting"@en, "firesetting behavior"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12402"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyromania"^^xsd:string ; rdfs:subClassOf obo:DOID_10937 . obo:DOID_12403 obo:IAO_0000115 "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B35.3"^^xsd:string, "ICD9CM:110.4"^^xsd:string, "MESH:D014008"^^xsd:string, "SNOMEDCT_US_2021_03_01:186993002"^^xsd:string, "UMLS_CUI:C0040259"^^xsd:string ; oboInOwl:hasExactSynonym "Athlete's foot"@en, "Dermatophytosis of foot"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "ringworm of foot"@en ; oboInOwl:id "DOID:12403"^^xsd:string ; a owl:Class ; rdfs:label "tinea pedis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_8913, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:NCBITaxon_34390 obo:NCBITaxon_5550 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002387 ] . obo:DOID_12404 obo:IAO_0000115 "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin."^^xsd:string ; oboInOwl:hasExactSynonym "Dermatophytosis-tinea/ringworm"@en, "Microsporic tinea, NOS"@en, "ringworm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12404"^^xsd:string ; a owl:Class ; rdfs:label "obsolete tinea"^^xsd:string ; owl:deprecated true . obo:DOID_1241 oboInOwl:hasDbXref "ICD10CM:H44.82"^^xsd:string, "ICD9CM:360.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:20842008"^^xsd:string, "UMLS_CUI:C0154806"^^xsd:string ; oboInOwl:hasExactSynonym "Luxation of eye"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1241"^^xsd:string ; a owl:Class ; rdfs:label "luxation of globe"^^xsd:string ; rdfs:subClassOf obo:DOID_1242 . obo:DOID_12417 oboInOwl:hasExactSynonym "Psychogenic dysmenorrhea"@en, "Psychogenic dysmenorrhea (finding)"@en, "Psychogenic dysmenorrhoea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12417"^^xsd:string ; a owl:Class ; rdfs:label "obsolete psychogenic dysmenorrhea"^^xsd:string ; owl:deprecated true . obo:DOID_1242 obo:IAO_0000115 "An eye disease that involves the globe of the eye."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H44.39"^^xsd:string, "ICD9CM:360.29"^^xsd:string, "SNOMEDCT_US_2021_03_01:194638007"^^xsd:string, "UMLS_CUI:C0154780"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1242"^^xsd:string ; a owl:Class ; rdfs:label "globe disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614 . obo:DOID_12424 oboInOwl:hasDbXref "ICD9CM:246.0"^^xsd:string, "SNOMEDCT_US_2021_03_01:190303007"^^xsd:string, "UMLS_CUI:C0701822"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of thyrocalcitonin secretion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12424"^^xsd:string ; a owl:Class ; rdfs:label "thyrocalcitonin secretion disease"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_1243 obo:IAO_0000115 "A vulva cancer that is located_in the labium minora."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C51.1"^^xsd:string, "ICD9CM:184.2"^^xsd:string, "NCI:C7637"^^xsd:string, "SNOMEDCT_US_2021_03_01:93851005"^^xsd:string, "UMLS_CUI:C0496815"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of labia minora"@en, "malignant neoplasm of labium minus"@en, "malignant tumor of Labia Minora"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1243"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "labia minora cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1245, obo:DOID_4159 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004014 ] ) ] . obo:DOID_12445 oboInOwl:hasDbXref "ICD9CM:378.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:1534008"^^xsd:string, "UMLS_CUI:C0702143"^^xsd:string ; oboInOwl:hasExactSynonym "Palsy of conjugate gaze"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12445"^^xsd:string ; a owl:Class ; rdfs:label "conjugate gaze palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_12448 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12448"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hematologic pregnancy complication"^^xsd:string ; owl:deprecated true . obo:DOID_12449 obo:IAO_0000115 "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow."^^xsd:string ; oboInOwl:hasDbXref "GARD:5836"^^xsd:string, "ICD10CM:D61.9"^^xsd:string, "ICD9CM:284.9"^^xsd:string, "MESH:D000741"^^xsd:string, "NCI:C2870"^^xsd:string, "OMIM:609135"^^xsd:string, "SNOMEDCT_US_2021_03_01:154807001"^^xsd:string, "UMLS_CUI:C0002874"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12449"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "aplastic anemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 . obo:DOID_1245 obo:IAO_0000115 "A female reproductive organ cancer that is located_in the vulva."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:1282"^^xsd:string ; oboInOwl:hasDbXref "GARD:9349"^^xsd:string, "ICD10CM:C51"^^xsd:string, "ICD9CM:184.4"^^xsd:string, "MESH:D014846"^^xsd:string, "NCI:C3443"^^xsd:string, "NCI:C7502"^^xsd:string, "SNOMEDCT_US_2021_03_01:126922007"^^xsd:string, "SNOMEDCT_US_2021_03_01:94143002"^^xsd:string, "UMLS_CUI:C0042995"^^xsd:string, "UMLS_CUI:C0375071"^^xsd:string ; oboInOwl:hasExactSynonym "Ca vulva"@en, "Vulvar tumor"@en, "malignant Vulvar tumor"@en, "malignant neoplasm of vulva"@en, "malignant tumor of vulva"@en, "neoplasm of vulva"@en, "vulval cancer"@en, "vulval neoplasm"@en, "vulvar neoplasm"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1245"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus, doid:TopNodes_DOcancerslim ; a owl:Class ; rdfs:label "vulva cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_120, obo:DOID_2059 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000997 ] ) ] . obo:DOID_12450 obo:IAO_0000115 "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D61.81"^^xsd:string, "ICD9CM:284.1"^^xsd:string, "MESH:D010198"^^xsd:string, "NCI:C34889"^^xsd:string, "SNOMEDCT_US_2021_03_01:127034005"^^xsd:string, "UMLS_CUI:C0030312"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12450"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pancytopenia"^^xsd:string ; rdfs:subClassOf obo:DOID_2355 ; skos:exactMatch "MESH:D010198"^^xsd:string . obo:DOID_12451 oboInOwl:hasDbXref "MESH:D013436"^^xsd:string, "SNOMEDCT_US_2021_03_01:32117000"^^xsd:string, "UMLS_CUI:C0038732"^^xsd:string ; oboInOwl:hasExactSynonym "Sulfemoglobinemia"@en, "Sulfhemoglobinemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12451"^^xsd:string ; a owl:Class ; rdfs:label "sulfhemoglobinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_620 . obo:DOID_12465 oboInOwl:hasDbXref "ICD10CM:N25.81"^^xsd:string, "ICD9CM:588.81"^^xsd:string, "SNOMEDCT_US_2021_03_01:19034001"^^xsd:string, "UMLS_CUI:C0271847"^^xsd:string ; oboInOwl:hasExactSynonym "hyperparathyroidism due to renal insufficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12465"^^xsd:string ; a owl:Class ; rdfs:label "secondary hyperparathyroidism of renal origin"^^xsd:string ; rdfs:subClassOf obo:DOID_12466, obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002113 ] . obo:DOID_12466 oboInOwl:hasDbXref "MESH:D006962"^^xsd:string, "NCI:C113335"^^xsd:string, "SNOMEDCT_US_2021_03_01:91478007"^^xsd:string, "UMLS_CUI:C0020503"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12466"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "secondary hyperparathyroidism"^^xsd:string ; rdfs:subClassOf obo:DOID_13543 . obo:DOID_1247 obo:IAO_0000115 "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13997"^^xsd:string, "DOID:2212"^^xsd:string, "DOID:9474"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:D68.9"^^xsd:string, "ICD9CM:286"^^xsd:string, "MESH:D001778"^^xsd:string, "NCI:C2902"^^xsd:string, "SNOMEDCT_US_2021_03_01:64779008"^^xsd:string, "UMLS_CUI:C0005779"^^xsd:string ; oboInOwl:hasExactSynonym "coagulation protein disease"^^xsd:string, "postpartum coagulation defect"@en, "postpartum coagulation defect with delivery"@en ; oboInOwl:hasNarrowSynonym "inherited blood coagulation disease"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1247"^^xsd:string ; oboInOwl:inSubset doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "blood coagulation disease"^^xsd:string ; rdfs:subClassOf obo:DOID_74 . obo:DOID_12474 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B81.1"^^xsd:string, "ICD9CM:127.5"^^xsd:string, "MESH:D017189"^^xsd:string, "SNOMEDCT_US_2021_03_01:52979002"^^xsd:string, "UMLS_CUI:C0006897"^^xsd:string ; oboInOwl:hasExactSynonym "Capillaria infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12474"^^xsd:string ; a owl:Class ; rdfs:label "capillariasis"^^xsd:string ; rdfs:subClassOf obo:DOID_409, obo:DOID_5295, obo:DOID_850, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002048 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002107 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_119095 ] . obo:DOID_12475 oboInOwl:hasDbXref "ICD9CM:726.61"^^xsd:string, "UMLS_CUI:C0158314"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12475"^^xsd:string ; a owl:Class ; rdfs:label "pes anserinus tendinitis or bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_204 . obo:DOID_1248 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:359610006"^^xsd:string, "UMLS_CUI:C0155169"^^xsd:string ; oboInOwl:hasExactSynonym "hyperEMIA eye"@en, "hyperemia of conjunctiva"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1248"^^xsd:string ; a owl:Class ; rdfs:label "ocular hyperemia"^^xsd:string ; rdfs:subClassOf obo:DOID_4251 . obo:DOID_1249 oboInOwl:hasExactSynonym "Conjunctival vascular disorder and cysts (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1249"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Conjunctival vascular disorder and cysts"^^xsd:string ; owl:deprecated true . obo:DOID_12491 oboInOwl:hasDbXref "ICD10CM:G52.2"^^xsd:string, "ICD9CM:352.3"^^xsd:string, "MESH:D020421"^^xsd:string, "NCI:C27591"^^xsd:string, "SNOMEDCT_US_2021_03_01:73765005"^^xsd:string, "UMLS_CUI:C0152179"^^xsd:string ; oboInOwl:hasExactSynonym "Vagus nerve disorder"@en, "disorder of pneumogastric [10th] nerve"@en, "disorder of vagal nerve"@en, "disorder of vagus nerve"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12491"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Vagus nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_3418 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001759 ] ) ] . obo:DOID_125 obo:IAO_0000115 "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "NCI:C6373"^^xsd:string, "UMLS_CUI:C1336939"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyoma of vagina"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:125"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vagina leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060114, obo:DOID_127, [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000996 ] . obo:DOID_12506 obo:IAO_0000115 "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)."^^xsd:string ; oboInOwl:hasDbXref "GARD:5906"^^xsd:string, "ICD10CM:G51.0"^^xsd:string, "ICD9CM:351.0"^^xsd:string, "MESH:D020330"^^xsd:string, "SNOMEDCT_US_2021_03_01:193093009"^^xsd:string, "UMLS_CUI:C0376175"^^xsd:string ; oboInOwl:hasExactSynonym "Bell palsy"@en, "Bell's (facial) palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12506"^^xsd:string ; a owl:Class ; rdfs:label "Bell's palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_13934 . obo:DOID_12508 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12508"^^xsd:string ; a owl:Class ; rdfs:label "obsolete simple type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_1251 obo:IAO_0000115 "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:016.4"^^xsd:string, "SNOMEDCT_US_2021_03_01:83652003"^^xsd:string, "UMLS_CUI:C0152814"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1251"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "tuberculous epididymitis"^^xsd:string ; rdfs:subClassOf obo:DOID_0080373, obo:DOID_2149, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001301 ] . obo:DOID_12510 obo:IAO_0000115 "An ischemia that is characterized by restriction in blood supply to the retina."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H35.82"^^xsd:string, "ICD9CM:362.84"^^xsd:string, "SNOMEDCT_US_2021_03_01:193427006"^^xsd:string, "UMLS_CUI:C0162291"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12510"^^xsd:string ; a owl:Class ; rdfs:label "retinal ischemia"^^xsd:string ; rdfs:subClassOf obo:DOID_2462, obo:DOID_326, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000966 ] . obo:DOID_12514 oboInOwl:hasDbXref "MESH:D012167"^^xsd:string, "NCI:C50732"^^xsd:string, "SNOMEDCT_US_2021_03_01:40024006"^^xsd:string, "UMLS_CUI:C0035321"^^xsd:string ; oboInOwl:hasExactSynonym "Retinal break"@en, "Retinal dialysis"@en, "Retinal tear"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12514"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "retinal perforation"^^xsd:string ; rdfs:subClassOf obo:DOID_5327 . obo:DOID_1252 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation."^^xsd:string ; oboInOwl:hasDbXref "GARD:10720"^^xsd:string, "ICD10CM:B79"^^xsd:string, "ICD9CM:127.3"^^xsd:string, "MESH:D014257"^^xsd:string, "NCI:C128399"^^xsd:string, "SNOMEDCT_US_2021_03_01:60570001"^^xsd:string, "UMLS_CUI:C0040954"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Trichuris trichura"@en, "Trichuriasis infection"@en, "Whipworm disease"@en, "trichuris trichiura infection"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1252"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "trichuriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_5295, obo:DOID_883, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_36087 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000160 ] . obo:DOID_12522 obo:IAO_0000115 "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:J67.1"^^xsd:string, "ICD9CM:495.1"^^xsd:string, "MESH:D011009"^^xsd:string, "NCI:C34409"^^xsd:string, "SNOMEDCT_US_2021_03_01:67242002"^^xsd:string, "UMLS_CUI:C0004681"^^xsd:string ; oboInOwl:hasExactSynonym "sugar cane worker pneumonitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12522"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "bagassosis"^^xsd:string ; rdfs:subClassOf obo:DOID_841, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000177 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019174 ] . obo:DOID_12524 oboInOwl:hasDbXref "ICD10CM:G57.6"^^xsd:string, "ICD9CM:355.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:193148004"^^xsd:string, "UMLS_CUI:C0154752"^^xsd:string ; oboInOwl:hasExactSynonym "Lesion of plantar nerve"@en, "Plantar nerve lesion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12524"^^xsd:string ; a owl:Class ; rdfs:label "plantar nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 . obo:DOID_12525 oboInOwl:hasExactSynonym "Meralgia paraesthetica"@en, "Meralgia paresthetica"@en, "Meralgia paresthetica (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12525"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome"^^xsd:string ; owl:deprecated true . obo:DOID_12526 oboInOwl:hasDbXref "GARD:7733"^^xsd:string, "ICD10CM:G57.5"^^xsd:string, "ICD9CM:355.5"^^xsd:string, "MESH:D013641"^^xsd:string, "NCI:C85183"^^xsd:string, "SNOMEDCT_US_2021_03_01:155077008"^^xsd:string, "UMLS_CUI:C0039319"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12526"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tarsal tunnel syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1187 . obo:DOID_12527 oboInOwl:hasDbXref "ICD10CM:G57.3"^^xsd:string, "ICD9CM:355.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:399107008"^^xsd:string, "UMLS_CUI:C0270909"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12527"^^xsd:string ; a owl:Class ; rdfs:label "common peroneal nerve lesion"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 . obo:DOID_12528 oboInOwl:hasDbXref "ICD10CM:G57.0"^^xsd:string, "ICD9CM:355.0"^^xsd:string, "MESH:D020426"^^xsd:string, "SNOMEDCT_US_2021_03_01:52585001"^^xsd:string, "UMLS_CUI:C0154748"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12528"^^xsd:string ; a owl:Class ; rdfs:label "lesion of sciatic nerve"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001322 ] ) ] . obo:DOID_12529 oboInOwl:hasDbXref "SNOMEDCT_US_2021_03_01:359842002"^^xsd:string, "UMLS_CUI:C0154751"^^xsd:string ; oboInOwl:hasExactSynonym "Tibial nerve palsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12529"^^xsd:string ; a owl:Class ; rdfs:label "tibial nerve palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_9473 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001323 ] ) ] . obo:DOID_1253 obo:IAO_0000115 "A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands."^^xsd:string ; oboInOwl:hasExactSynonym "enoplida infectious disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1253"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Enoplea infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12531 obo:IAO_0000115 "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion."^^xsd:string ; oboInOwl:hasDbXref "GARD:7867"^^xsd:string, "ICD10CM:D68.0"^^xsd:string, "ICD9CM:286.4"^^xsd:string, "MESH:D014842"^^xsd:string, "NCI:C68677"^^xsd:string, "SNOMEDCT_US_2021_03_01:11093006"^^xsd:string, "UMLS_CUI:C0042974"^^xsd:string ; oboInOwl:hasExactSynonym "vascular hemophilia"@en, "vascular pseudohemophilia"@en, "von Willebrand disease"@en, "von Willebrand disorder"@en, "von Willebrand's-Jurgens' disease"@en, "von Willebrand-Jrgens disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12531"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "von Willebrand's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1247 . obo:DOID_12537 oboInOwl:hasDbXref "ICD9CM:724.71"^^xsd:string, "SNOMEDCT_US_2021_03_01:202809009"^^xsd:string, "UMLS_CUI:C0158295"^^xsd:string ; oboInOwl:hasExactSynonym "Coccygeal hypermobility syndrome"@en, "hypermobility of the coccyx"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12537"^^xsd:string ; a owl:Class ; rdfs:label "hypermobility of coccyx"^^xsd:string ; rdfs:subClassOf obo:DOID_1123 . obo:DOID_12538 oboInOwl:hasExactSynonym "venereal disease of pharynx due to Chlamydia trachomatis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12538"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis pharyngitis"^^xsd:string ; owl:deprecated true . obo:DOID_12539 oboInOwl:hasExactSynonym "Chlamydial infection of anus and rectum (disorder)"@en, "Venereal disease of the anus and rectum due to Chlamydia trachomatis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12539"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:sexually_transmitted_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydia trachomatis proctitis"^^xsd:string ; owl:deprecated true . obo:DOID_1254 obo:IAO_0000115 "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B81.2"^^xsd:string, "ICD9CM:127.6"^^xsd:string, "MESH:D014253"^^xsd:string, "SNOMEDCT_US_2021_03_01:33710003"^^xsd:string, "UMLS_CUI:C0040948"^^xsd:string ; oboInOwl:hasExactSynonym "Infection by Trichostrongylus"@en, "Infection by Trichostrongylus species"@en, "Trichostrongyliasis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1254"^^xsd:string ; a owl:Class ; rdfs:label "trichostrongylosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1255, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; skos:exactMatch "MESH:D014253"^^xsd:string . obo:DOID_12541 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12541"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia subchronic state"^^xsd:string ; owl:deprecated true . obo:DOID_12542 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12542"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia subchronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_12543 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12543"^^xsd:string ; a owl:Class ; rdfs:label "obsolete catatonic type schizophrenia chronic state with acute exacerbation"^^xsd:string ; owl:deprecated true . obo:DOID_12546 oboInOwl:hasDbXref "ICD10CM:H73.82"^^xsd:string, "ICD9CM:384.82"^^xsd:string, "SNOMEDCT_US_2021_03_01:194323000"^^xsd:string, "UMLS_CUI:C0155471"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12546"^^xsd:string ; a owl:Class ; rdfs:label "atrophic nonflaccid tympanic membrane"^^xsd:string ; rdfs:subClassOf obo:DOID_5782 . obo:DOID_12549 obo:IAO_0000115 "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12547"^^xsd:string ; oboInOwl:hasDbXref "MESH:D006506"^^xsd:string, "NCI:C3096"^^xsd:string, "SNOMEDCT_US_2021_03_01:40468003"^^xsd:string, "UMLS_CUI:C0019159"^^xsd:string ; oboInOwl:hasExactSynonym "Viral hepatitis, type A"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:hasRelatedSynonym "Viral hepatitis A"@en ; oboInOwl:id "DOID:12549"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hepatitis A"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_12092 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000125 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_1255 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea."^^xsd:string ; oboInOwl:hasDbXref "MESH:D014252"^^xsd:string, "UMLS_CUI:C0040947"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1255"^^xsd:string ; a owl:Class ; rdfs:label "trichostrongyloidiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_883 . obo:DOID_12550 oboInOwl:hasDbXref "ICD10CM:K72.91"^^xsd:string, "MESH:D006501"^^xsd:string, "SNOMEDCT_US_2021_03_01:197332007"^^xsd:string, "UMLS_CUI:C0019147"^^xsd:string ; oboInOwl:hasExactSynonym "Hepatocerebral intoxication"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12550"^^xsd:string ; a owl:Class ; rdfs:label "hepatic coma"^^xsd:string ; rdfs:subClassOf obo:DOID_13413 . obo:DOID_12551 oboInOwl:hasExactSynonym "Septicemia due to E. Coli (disorder)"@en, "Septicemia due to escherichia coli"@en, "Septicemia due to escherichia coli [E. coli]"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12551"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Escherichia coli septicemia"^^xsd:string ; owl:deprecated true . obo:DOID_12554 obo:IAO_0000115 "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs."^^xsd:string ; oboInOwl:hasDbXref "GARD:6588"^^xsd:string, "ICD10CM:D59.3"^^xsd:string, "ICD9CM:283.11"^^xsd:string, "MESH:D006463"^^xsd:string, "NCI:C75545"^^xsd:string, "ORDO:2134"^^xsd:string, "SNOMEDCT_US_2021_03_01:123308008"^^xsd:string, "UMLS_CUI:C0019061"^^xsd:string ; oboInOwl:hasExactSynonym "haemolytic-uraemic syndrome"@en, "hemolytic uremic syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12554"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hemolytic-uremic syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_12555 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12555"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acute renal failure with lesion of renal cortical necrosis"^^xsd:string ; owl:deprecated true . obo:DOID_12556 obo:IAO_0000115 "An acute kidney failure that is characterized by necrosis of epithelial tubule cells."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N17.0"^^xsd:string, "MESH:D007683"^^xsd:string, "NCI:C34749"^^xsd:string, "SNOMEDCT_US_2021_03_01:23697004"^^xsd:string, "UMLS_CUI:C0022672"^^xsd:string ; oboInOwl:hasExactSynonym "ATN - acute tubular necrosis"@en, "acute renal Failure with tubular necrosis"@en, "acute renal failure with lesion of tubular necrosis"@en, "acute tubular necrosis"@en, "acute tubule necrosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12556"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute kidney tubular necrosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3021, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000132 ] . obo:DOID_12557 oboInOwl:hasDbXref "ICD10CM:H50.81"^^xsd:string, "ICD9CM:378.71"^^xsd:string, "MESH:D004370"^^xsd:string, "NCI:C84678"^^xsd:string, "OMIM:126800"^^xsd:string, "OMIM:604356"^^xsd:string, "ORDO:233"^^xsd:string, "SNOMEDCT_US_2021_03_01:60318001"^^xsd:string, "UMLS_CUI:C0013261"^^xsd:string ; oboInOwl:hasExactSynonym "Duane's syndrome"@en, "Stilling-Turk-Duane syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12557"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Duane retraction syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_12558 oboInOwl:hasDbXref "GARD:4503"^^xsd:string, "ICD10CM:H49.4"^^xsd:string, "ICD9CM:378.72"^^xsd:string, "MESH:D017246"^^xsd:string, "OMIM:PS157640"^^xsd:string, "SNOMEDCT_US_2021_03_01:194126004"^^xsd:string, "UMLS_CUI:C0162674"^^xsd:string ; oboInOwl:hasExactSynonym "progressive external ophthalmoplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12558"^^xsd:string ; a owl:Class ; rdfs:label "chronic progressive external ophthalmoplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_699 . obo:DOID_12559 obo:IAO_0000115 "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:733.02"^^xsd:string, "OMIM:259750"^^xsd:string, "SNOMEDCT_US_2021_03_01:3345002"^^xsd:string, "UMLS_CUI:C0158447"^^xsd:string ; oboInOwl:hasExactSynonym "Idiopathic osteoporosis"@en, "juvenile osteoporosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12559"^^xsd:string ; a owl:Class ; rdfs:label "idiopathic juvenile osteoporosis"^^xsd:string ; rdfs:subClassOf obo:DOID_11476, [ a owl:Restriction ; owl:onProperty obo:RO_0002488 ; owl:someValuesFrom obo:HP_0011462 ] . obo:DOID_12566 obo:IAO_0000115 "A vulvar disease that is characterized by the presence of ulcers."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N77.0"^^xsd:string, "ICD9CM:616.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:198230004"^^xsd:string, "UMLS_CUI:C0156340"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12566"^^xsd:string ; a owl:Class ; rdfs:label "ulceration of vulva"^^xsd:string ; rdfs:subClassOf obo:DOID_2059 . obo:DOID_12568 obo:IAO_0000115 "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page."^^xsd:string ; oboInOwl:hasDbXref "MESH:D060705"^^xsd:string ; oboInOwl:hasExactSynonym "Mathematics disorder"@en, "disorder of arithmetical skills"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12568"^^xsd:string ; a owl:Class ; rdfs:label "dyscalculia"^^xsd:string ; rdfs:subClassOf obo:DOID_8927 . obo:DOID_12569 obo:IAO_0000115 "A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050017"^^xsd:string, "DOID:0050018"^^xsd:string ; oboInOwl:hasExactSynonym "Cardiovascular Trypanosomiasis"@en, "Chagas' cardiomyopathy"@en, "Chagas' disease cardiomyopathy"@en, "Chagas' disease with heart involvement"@en, "Chagas' disease with heart involvement (disorder)"@en, "acute chagas' disease with heart involvement"@en, "chronic chagas' disease with heart involvement"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12569"^^xsd:string ; oboInOwl:inSubset doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chagas cardiomyopathy"^^xsd:string ; owl:deprecated true . obo:DOID_1257 oboInOwl:hasAlternativeId "DOID:1256"^^xsd:string, "DOID:12946"^^xsd:string, "DOID:2259"^^xsd:string ; oboInOwl:hasExactSynonym "Transient hypertension of pregnancy, with delivery"@en, "antepartum transient hypertension of pregnancy"@en, "postpartum transient hypertension of pregnancy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1257"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Transient hypertension of pregnancy"^^xsd:string ; owl:deprecated true . obo:DOID_12570 obo:IAO_0000115 "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:365.51"^^xsd:string, "SNOMEDCT_US_2021_03_01:32893002"^^xsd:string, "UMLS_CUI:C0152137"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12570"^^xsd:string ; a owl:Class ; rdfs:label "phacolytic glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_12571 . obo:DOID_12571 obo:IAO_0000115 "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:365.59"^^xsd:string, "SNOMEDCT_US_2021_03_01:84333006"^^xsd:string, "UMLS_CUI:C0154959"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12571"^^xsd:string ; a owl:Class ; rdfs:label "phacogenic glaucoma"^^xsd:string ; rdfs:subClassOf obo:DOID_1686 . obo:DOID_12573 oboInOwl:hasDbXref "ICD10CM:P72.1"^^xsd:string, "ICD9CM:775.3"^^xsd:string, "NCI:C114906"^^xsd:string, "SNOMEDCT_US_2021_03_01:13795004"^^xsd:string, "UMLS_CUI:C0158983"^^xsd:string ; oboInOwl:hasExactSynonym "Neonatal thyrotoxicosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12573"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "neonatal thyrotoxicosis"^^xsd:string ; rdfs:subClassOf obo:DOID_7997 . obo:DOID_12574 oboInOwl:hasDbXref "GARD:4457"^^xsd:string, "MESH:D015866"^^xsd:string, "NCI:C35111"^^xsd:string, "SNOMEDCT_US_2021_03_01:46627006"^^xsd:string, "UMLS_CUI:C0042167"^^xsd:string ; oboInOwl:hasExactSynonym "Uveitis, posterior"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12574"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "posterior uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_12030 . obo:DOID_12577 oboInOwl:hasDbXref "MESH:D014524"^^xsd:string, "NCI:C79804"^^xsd:string, "SNOMEDCT_US_2021_03_01:95588004"^^xsd:string, "UMLS_CUI:C0041972"^^xsd:string ; oboInOwl:hasExactSynonym "Obstruction of urethra"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12577"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "urethral obstruction"^^xsd:string ; rdfs:subClassOf obo:DOID_732 . obo:DOID_12580 obo:IAO_0000115 "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat."^^xsd:string ; oboInOwl:hasDbXref "GARD:6213"^^xsd:string, "ICD10CM:Q93.4"^^xsd:string, "ICD9CM:758.31"^^xsd:string, "MESH:D003410"^^xsd:string, "NCI:C34518"^^xsd:string, "OMIM:123450"^^xsd:string, "SNOMEDCT_US_2021_03_01:70173007"^^xsd:string, "UMLS_CUI:C0010314"^^xsd:string ; oboInOwl:hasExactSynonym "5p deletion syndrome"@en, "5p partial monosomy syndrome"@en, "Cri-du-chat syndrome"@en, "chromosome 5 short arm deletion syndrome"@en, "chromosome 5p deletion syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12580"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Cri-Du-Chat syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388, obo:DOID_225, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000159 ] [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:SO_0000340 ] ) ] . obo:DOID_12581 oboInOwl:hasDbXref "ICD10CM:M70.2"^^xsd:string, "ICD9CM:726.33"^^xsd:string, "SNOMEDCT_US_2021_03_01:425940002"^^xsd:string, "UMLS_CUI:C0263962"^^xsd:string ; oboInOwl:hasExactSynonym "Bursitis of elbow"@en, "Bursitis of elbow region"@en, "Capped elbow"@en, "Elbow bursitis"@en, "Miner's elbow"@en, "Miners' elbow"@en, "Shoe boil"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12581"^^xsd:string ; a owl:Class ; rdfs:label "olecranon bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_204, obo:DOID_2965 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_2965 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0006810 ] ) ] . obo:DOID_12582 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12582"^^xsd:string ; a owl:Class ; rdfs:label "obsolete enthesopathy of elbow"^^xsd:string ; owl:deprecated true . obo:DOID_12583 obo:IAO_0000115 "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q93.81"^^xsd:string, "ICD9CM:758.32"^^xsd:string, "MESH:D004062"^^xsd:string, "OMIM:192430"^^xsd:string, "SNOMEDCT_US_2021_03_01:205642004"^^xsd:string, "UMLS_CUI:C0220704"^^xsd:string ; oboInOwl:hasExactSynonym "Shprintzen syndrome"@en, "VCF-Velocardiofacial syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12583"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "velocardiofacial syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060388 . obo:DOID_12584 oboInOwl:hasExactSynonym "Diabetes mellitus during pregnancy - baby delivered (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12584"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Diabetes mellitus of mother, with delivery"^^xsd:string ; owl:deprecated true . obo:DOID_12594 obo:IAO_0000115 "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus."^^xsd:string ; oboInOwl:hasDbXref "GARD:4462"^^xsd:string, "ICD10CM:Q60.6"^^xsd:string, "NCI:C40435"^^xsd:string, "SNOMEDCT_US_2021_03_01:41962002"^^xsd:string, "UMLS_CUI:C0178426"^^xsd:string ; oboInOwl:hasExactSynonym "Potter sequence"@en, "Potter syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12594"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Potter's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_14766 . obo:DOID_1260 oboInOwl:hasDbXref "MESH:D010249"^^xsd:string, "SNOMEDCT_US_2021_03_01:280483007"^^xsd:string, "UMLS_CUI:C0030455"^^xsd:string ; oboInOwl:hasExactSynonym "pelvic cellulitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1260"^^xsd:string ; a owl:Class ; rdfs:label "parametritis"^^xsd:string ; rdfs:subClassOf obo:DOID_1003 . obo:DOID_12603 obo:IAO_0000115 "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12621"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C95.00"^^xsd:string, "ICD9CM:208.0"^^xsd:string, "NCI:C9300"^^xsd:string, "OMIM:308960"^^xsd:string, "SNOMEDCT_US_2021_03_01:24072005"^^xsd:string, "UMLS_CUI:C0085669"^^xsd:string, "UMLS_CUI:C1378511"^^xsd:string ; oboInOwl:hasExactSynonym "Stem cell Leukemia"@en, "Stem cell leukaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12603"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "acute leukemia"^^xsd:string ; rdfs:subClassOf obo:DOID_1037 . obo:DOID_12604 oboInOwl:hasExactSynonym "secondary malignant neoplasm of adrenal gland"@en, "secondary malignant neoplasm of adrenal gland (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12604"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary malignant neoplasm of suprarenal gland"^^xsd:string ; owl:deprecated true . obo:DOID_12605 oboInOwl:hasExactSynonym "metastatic tumor to the Adrenals"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12605"^^xsd:string ; a owl:Class ; rdfs:label "obsolete metastasis to adrenals"^^xsd:string ; owl:deprecated true . obo:DOID_12608 obo:IAO_0000115 "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12607"^^xsd:string ; oboInOwl:hasExactSynonym "Staphylococcus aureus pneumonia"@en, "pneumonia due to staphylococcus aureus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12608"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete staphylococcal pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_1261 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1261"^^xsd:string ; a owl:Class ; rdfs:label "obsolete AIDS-related pelvic inflammatory disease"^^xsd:string ; owl:deprecated true . obo:DOID_12610 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12610"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adrenal hemorrhage of fetus or newborn"^^xsd:string ; owl:deprecated true . obo:DOID_12612 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12612"^^xsd:string ; a owl:Class ; rdfs:label "obsolete gastrointestinal hemorrhage of fetus or newborn"^^xsd:string ; owl:deprecated true . obo:DOID_12633 obo:IAO_0000115 "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene."^^xsd:string ; oboInOwl:hasExactSynonym "Cervicofacial actinomycotic infection"@en, "Lumpy jaw"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12633"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete cervicofacial actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_12634 obo:IAO_0000115 "An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12634"^^xsd:string ; a owl:Class ; rdfs:label "obsolete cerebral actinomycosis"^^xsd:string ; owl:deprecated true . obo:DOID_12637 obo:IAO_0000115 "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N81.81"^^xsd:string, "ICD9CM:618.05"^^xsd:string, "UMLS_CUI:C1456251"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12637"^^xsd:string ; a owl:Class ; rdfs:label "perineocele"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_12638 obo:IAO_0000115 "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:Q40.0"^^xsd:string, "ICD9CM:750.5"^^xsd:string, "MESH:D046248"^^xsd:string, "NCI:C98952"^^xsd:string, "OMIM:179010"^^xsd:string, "OMIM:300711"^^xsd:string, "OMIM:610260"^^xsd:string, "OMIM:612017"^^xsd:string, "OMIM:612525"^^xsd:string, "SNOMEDCT_US_2021_03_01:48644003"^^xsd:string, "UMLS_CUI:C0700639"^^xsd:string ; oboInOwl:hasExactSynonym "congenital hypertrophic pyloric stenosis"@en, "congenital or infantile stricture of pylorus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12638"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "hypertrophic pyloric stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_12639, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12639 oboInOwl:hasDbXref "ICD10CM:K31.1"^^xsd:string, "MESH:D011707"^^xsd:string, "NCI:C34966"^^xsd:string, "SNOMEDCT_US_2021_03_01:367403001"^^xsd:string, "UMLS_CUI:C0034194"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12639"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pyloric stenosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3122 . obo:DOID_12641 oboInOwl:hasDbXref "ICD10CM:Q40.1"^^xsd:string, "ICD9CM:750.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:47028006"^^xsd:string, "UMLS_CUI:C0158674"^^xsd:string ; oboInOwl:hasExactSynonym "Congenital hiatus hernia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12641"^^xsd:string ; a owl:Class ; rdfs:label "displacement of cardia through esophageal hiatus"^^xsd:string ; rdfs:subClassOf obo:DOID_12642 . obo:DOID_12642 oboInOwl:hasDbXref "ICD10CM:K44"^^xsd:string, "MESH:D006551"^^xsd:string, "NCI:C98945"^^xsd:string, "OMIM:142400"^^xsd:string, "SNOMEDCT_US_2021_03_01:236053002"^^xsd:string, "SNOMEDCT_US_2021_03_01:3662000"^^xsd:string, "SNOMEDCT_US_2021_03_01:84089009"^^xsd:string, "UMLS_CUI:C0267725"^^xsd:string, "UMLS_CUI:C0376710"^^xsd:string, "UMLS_CUI:C3489393"^^xsd:string ; oboInOwl:hasExactSynonym "Diaphragmatic - hiatus -hernia"@en, "hiatal hernia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12642"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "hiatus hernia"^^xsd:string ; rdfs:subClassOf obo:DOID_76 . obo:DOID_12647 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12647"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Congenital or acquired abnormality of vulva, with delivery"^^xsd:string ; rdfs:subClassOf [ a owl:Restriction ; owl:onProperty obo:RO_0004019 ; owl:someValuesFrom obo:HP_0001197 ] ; owl:deprecated true . obo:DOID_1265 obo:IAO_0000115 "An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1265"^^xsd:string ; a owl:Class ; rdfs:label "obsolete genitourinary cancer"^^xsd:string ; owl:deprecated true . obo:DOID_12651 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12651"^^xsd:string ; a owl:Class ; rdfs:label "obsolete disorder of optic chiasm associated with inflammatory disorder"^^xsd:string ; owl:deprecated true . obo:DOID_12657 oboInOwl:hasDbXref "ICD10CM:H93.3"^^xsd:string, "ICD9CM:388.5"^^xsd:string, "MESH:D000160"^^xsd:string, "NCI:C27207"^^xsd:string, "SNOMEDCT_US_2021_03_01:77949003"^^xsd:string, "UMLS_CUI:C0001163"^^xsd:string ; oboInOwl:hasExactSynonym "acoustic nerve disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12657"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "vestibulocochlear nerve disease"^^xsd:string ; rdfs:subClassOf obo:DOID_2889, obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001648 ] ) ] . obo:DOID_12661 oboInOwl:hasDbXref "GARD:701"^^xsd:string, "ICD10CM:K03.5"^^xsd:string, "ICD9CM:521.6"^^xsd:string, "MESH:D020254"^^xsd:string, "OMIM:157950"^^xsd:string, "SNOMEDCT_US_2021_03_01:14901003"^^xsd:string, "UMLS_CUI:C0155930"^^xsd:string ; oboInOwl:hasExactSynonym "Ankylosis of teeth"@en, "Ankylosis of tooth"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12661"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "tooth ankylosis"^^xsd:string ; rdfs:subClassOf obo:DOID_214, obo:DOID_227 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_227 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001091 ] ) ] . obo:DOID_12662 obo:IAO_0000115 "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis."^^xsd:string ; oboInOwl:hasDbXref "GARD:7323"^^xsd:string, "ICD10CM:B41"^^xsd:string, "ICD9CM:116.1"^^xsd:string, "MESH:D010229"^^xsd:string, "NCI:C34891"^^xsd:string, "SNOMEDCT_US_2021_03_01:59925007"^^xsd:string, "UMLS_CUI:C0030409"^^xsd:string ; oboInOwl:hasExactSynonym "Mucocutaneous-lymphangitic paracoccidioidomycosis"@en, "Paracoccidioidomycosis"@en, "paracoccidioidal mycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12662"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "paracoccidioidomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_121759 ] ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0050292 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:UBERON_0000014 obo:UBERON_0000029 obo:UBERON_0000344 obo:UBERON_0001474 obo:UBERON_0002048 ) ] ] ) ] . obo:DOID_12663 obo:IAO_0000115 "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:13067"^^xsd:string ; oboInOwl:hasDbXref "GARD:5931"^^xsd:string, "ICD10CM:B40"^^xsd:string, "ICD9CM:116.0"^^xsd:string, "MESH:D001759"^^xsd:string, "NCI:C34428"^^xsd:string, "SNOMEDCT_US_2021_03_01:266217003"^^xsd:string, "UMLS_CUI:C0005716"^^xsd:string ; oboInOwl:hasExactSynonym "Blastomyces Dermatitidis Infection"@en, "Blastomycotic infection"@en, "Chicago disease"@en, "Gilchrist's disease"@en, "Infection by Blastomyces dermatitidis"@en, "North American blastomycosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12663"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "blastomycosis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050292, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_5039 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom obo:TRANS_0000009 ] . obo:DOID_12667 oboInOwl:hasAlternativeId "DOID:12671"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H53.30"^^xsd:string, "ICD9CM:368.30"^^xsd:string, "NCI:C34422"^^xsd:string, "SNOMEDCT_US_2021_03_01:83275001"^^xsd:string, "UMLS_CUI:C0005461"^^xsd:string ; oboInOwl:hasExactSynonym "simultaneous visual perception without fusion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12667"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "binocular vision disease"^^xsd:string ; rdfs:subClassOf obo:DOID_540 . obo:DOID_12668 oboInOwl:hasDbXref "ICD10CM:H53.31"^^xsd:string, "ICD9CM:368.34"^^xsd:string, "SNOMEDCT_US_2021_03_01:79195003"^^xsd:string, "UMLS_CUI:C0155010"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12668"^^xsd:string ; a owl:Class ; rdfs:label "abnormal retinal correspondence"^^xsd:string ; rdfs:subClassOf obo:DOID_12667 . obo:DOID_12670 oboInOwl:hasExactSynonym "Fusion with defective stereopsis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12670"^^xsd:string ; a owl:Class ; rdfs:label "obsolete fusion with defective stereopsis"^^xsd:string ; owl:deprecated true . obo:DOID_12678 oboInOwl:hasDbXref "ICD10CM:E83.52"^^xsd:string, "ICD9CM:275.42"^^xsd:string, "MESH:D006934"^^xsd:string, "NCI:C3112"^^xsd:string, "SNOMEDCT_US_2021_03_01:154752005"^^xsd:string, "UMLS_CUI:C0020437"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12678"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypercalcemia"^^xsd:string ; rdfs:subClassOf obo:DOID_10575 . obo:DOID_12679 oboInOwl:hasDbXref "GARD:7177"^^xsd:string, "MESH:D009397"^^xsd:string, "NCI:C84918"^^xsd:string, "SNOMEDCT_US_2021_03_01:154752005"^^xsd:string, "UMLS_CUI:C0027709"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12679"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "nephrocalcinosis"^^xsd:string ; rdfs:subClassOf obo:DOID_557 . obo:DOID_12680 obo:IAO_0000115 "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom abnormal bulbar reflexes, and has_symptom emotional outbursts."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:335.23"^^xsd:string, "MESH:D020828"^^xsd:string, "NCI:C129934"^^xsd:string, "SNOMEDCT_US_2021_03_01:7379000"^^xsd:string, "UMLS_CUI:C0033790"^^xsd:string ; oboInOwl:hasExactSynonym "Pseudobulbar palsy"@en, "pseudobulbar paralysis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12680"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "pseudobulbar palsy"^^xsd:string ; rdfs:subClassOf obo:DOID_936 . obo:DOID_12683 obo:IAO_0000115 "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:H81.2"^^xsd:string, "ICD9CM:386.12"^^xsd:string, "MESH:D020338"^^xsd:string, "SNOMEDCT_US_2021_03_01:232293008"^^xsd:string, "UMLS_CUI:C0751908"^^xsd:string ; oboInOwl:hasExactSynonym "Epidemic neurolabyrinthitis"@en, "Vestibular neuritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12683"^^xsd:string ; a owl:Class ; rdfs:label "vestibular neuronitis"^^xsd:string ; rdfs:subClassOf obo:DOID_12657, obo:DOID_4953, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_10239 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12685 obo:IAO_0000115 "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F80.2"^^xsd:string, "ICD9CM:315.32"^^xsd:string, "NCI:C92563"^^xsd:string, "SNOMEDCT_US_2021_03_01:25766007"^^xsd:string, "UMLS_CUI:C0236827"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12685"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mixed receptive-expressive language disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_2033 . obo:DOID_12689 oboInOwl:hasDbXref "GARD:223"^^xsd:string, "MESH:D009464"^^xsd:string, "NCI:C3276"^^xsd:string, "SNOMEDCT_US_2021_03_01:269643009"^^xsd:string, "UMLS_CUI:C0027859"^^xsd:string ; oboInOwl:hasExactSynonym "Vestibular Neurilemmoma"@en, "Vestibular schwannoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12689"^^xsd:string ; oboInOwl:inSubset doid:DO_cancer_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "acoustic neuroma"^^xsd:string ; rdfs:subClassOf obo:DOID_3192 . obo:DOID_1269 oboInOwl:hasExactSynonym "tuberculosis of thyroid gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1269"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete thyroid gland tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_12694 oboInOwl:hasAlternativeId "DOID:12695"^^xsd:string, "DOID:12696"^^xsd:string ; oboInOwl:hasExactSynonym "hyperemesis gravidarum with metabolic disturbance - delivered (disorder)"@en, "hyperemesis gravidarum with metabolic disturbance, antepartum"@en, "hyperemesis gravidarum with metabolic disturbance, delivered"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12694"^^xsd:string ; a owl:Class ; rdfs:label "obsolete hyperemesis gravidarum with metabolic disturbance"^^xsd:string ; owl:deprecated true . obo:DOID_12697 obo:IAO_0000115 "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes."^^xsd:string ; oboInOwl:hasDbXref "GARD:6919"^^xsd:string, "ICD10CM:G83.5"^^xsd:string, "ICD9CM:344.81"^^xsd:string, "MESH:D000080422"^^xsd:string, "SNOMEDCT_US_2021_03_01:38023001"^^xsd:string, "UMLS_CUI:C0023944"^^xsd:string ; oboInOwl:hasExactSynonym "Locked in syndrome"@en, "Locked-in state"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12697"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:label "locked-in syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_863 . obo:DOID_12698 obo:IAO_0000115 "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N62"^^xsd:string, "MESH:D006177"^^xsd:string, "NCI:C3073"^^xsd:string, "SNOMEDCT_US_2021_03_01:155963008"^^xsd:string, "UMLS_CUI:C0018418"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12698"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "gynecomastia"^^xsd:string ; rdfs:subClassOf obo:DOID_1923 . obo:DOID_127 obo:IAO_0000115 "A cell type benign neoplasm that is a benign tumor of smooth muscle cells."^^xsd:string ; oboInOwl:hasDbXref "MESH:D007889"^^xsd:string, "NCI:C3157"^^xsd:string, "SNOMEDCT_US_2021_03_01:702978006"^^xsd:string, "UMLS_CUI:C0023267"^^xsd:string ; oboInOwl:hasExactSynonym "leiomyomatous neoplasm"@en, "leiomyomatous tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:127"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "leiomyoma"^^xsd:string ; rdfs:subClassOf obo:DOID_0060084 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_0060072 [ a owl:Restriction ; owl:onProperty obo:RO_0001000 ; owl:someValuesFrom obo:CL_0000192 ] ) ] . obo:DOID_1270 obo:IAO_0000115 "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins."^^xsd:string ; oboInOwl:hasDbXref "GARD:6626"^^xsd:string, "ICD10CM:I78.0"^^xsd:string, "ICD9CM:448.0"^^xsd:string, "MESH:D013683"^^xsd:string, "NCI:C35064"^^xsd:string, "OMIM:187300"^^xsd:string, "OMIM:600376"^^xsd:string, "OMIM:601101"^^xsd:string, "OMIM:615506"^^xsd:string, "ORDO:774"^^xsd:string, "SNOMEDCT_US_2021_03_01:266324004"^^xsd:string, "UMLS_CUI:C0039445"^^xsd:string ; oboInOwl:hasExactSynonym "Osler hemorrhagic telangiectasia syndrome"@en, "Osler-Weber-Rendu disease"@en, "Rendu-Osler-Weber disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1270"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "hereditary hemorrhagic telangiectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050736, obo:DOID_178, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000147 ] . obo:DOID_12700 obo:IAO_0000115 "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:12699"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E22.1"^^xsd:string, "MESH:D002640"^^xsd:string, "MESH:D006966"^^xsd:string, "SNOMEDCT_US_2021_03_01:190468001"^^xsd:string, "SNOMEDCT_US_2021_03_01:85039006"^^xsd:string, "UMLS_CUI:C0008043"^^xsd:string, "UMLS_CUI:C0020514"^^xsd:string ; oboInOwl:hasExactSynonym "Chiari-Frommel syndrome"@en, "Pregnancy-related A-G syndrome"@en, "hyperprolactinaemia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12700"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hyperprolactinemia"^^xsd:string ; rdfs:subClassOf obo:DOID_0060158 . obo:DOID_12702 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12702"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Rotator cuff shoulder syndrome and allied disorder"^^xsd:string ; owl:deprecated true . obo:DOID_12704 obo:IAO_0000115 "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22."^^xsd:string ; oboInOwl:hasDbXref "GARD:5862"^^xsd:string, "MESH:D001260"^^xsd:string, "NCI:C2887"^^xsd:string, "OMIM:208900"^^xsd:string, "SNOMEDCT_US_2021_03_01:68504005"^^xsd:string, "UMLS_CUI:C0004135"^^xsd:string ; oboInOwl:hasExactSynonym "Boder-Sedgwick syndrome"@en, "Louis Bar syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12704"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "ataxia telangiectasia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 ; skos:exactMatch "MESH:D001260"^^xsd:string . obo:DOID_12705 oboInOwl:hasAlternativeId "DOID:0050555"^^xsd:string ; oboInOwl:hasDbXref "GARD:6468"^^xsd:string, "ICD10CM:G11.11"^^xsd:string, "ICD9CM:334.0"^^xsd:string, "MESH:D005621"^^xsd:string, "NCI:C84718"^^xsd:string, "SNOMEDCT_US_2021_03_01:155011003"^^xsd:string, "UMLS_CUI:C0016719"^^xsd:string ; oboInOwl:hasExactSynonym "Friedreich ataxia 1"@en, "Friedreich's ataxia"@en, "Friedreich's tabes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12705"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "Friedreich ataxia"^^xsd:string ; rdfs:subClassOf obo:DOID_0050950 ; skos:exactMatch "MESH:D005621"^^xsd:string . obo:DOID_12707 oboInOwl:hasDbXref "GARD:9256"^^xsd:string, "MESH:D002527"^^xsd:string, "OMIM:213400"^^xsd:string, "SNOMEDCT_US_2021_03_01:41009006"^^xsd:string, "UMLS_CUI:C0007761"^^xsd:string ; oboInOwl:hasExactSynonym "Dyssynergia cerebellaris myoclonica"@en, "progressive cerebellar tremor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12707"^^xsd:string ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "myoclonic cerebellar dyssynergia"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_1271 obo:IAO_0000115 "A vascular disease that is located_in the capillaries."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:I78"^^xsd:string, "ICD9CM:448"^^xsd:string, "SNOMEDCT_US_2021_03_01:58729003"^^xsd:string, "UMLS_CUI:C0155765"^^xsd:string ; oboInOwl:hasExactSynonym "disease of capillaries"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1271"^^xsd:string ; a owl:Class ; rdfs:label "capillary disease"^^xsd:string ; rdfs:subClassOf obo:DOID_178 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_178 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001982 ] ) ] . obo:DOID_12710 obo:IAO_0000115 "An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain."^^xsd:string ; oboInOwl:hasExactSynonym "pulmonary African histoplasmosis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12710"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Histoplasma duboisii pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12711 obo:IAO_0000115 "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:B36.3"^^xsd:string, "ICD9CM:111.3"^^xsd:string, "MESH:D010854"^^xsd:string, "SNOMEDCT_US_2021_03_01:266218008"^^xsd:string, "SNOMEDCT_US_2021_03_01:33666009"^^xsd:string, "UMLS_CUI:C0031898"^^xsd:string, "UMLS_CUI:C0153249"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12711"^^xsd:string ; a owl:Class ; rdfs:comment """Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases."""^^xsd:string ; rdfs:label "black piedra"^^xsd:string ; rdfs:subClassOf obo:DOID_0050133 . obo:DOID_12712 obo:IAO_0000115 "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)."^^xsd:string ; oboInOwl:hasDbXref "GARD:206"^^xsd:string, "ICD10CM:Q61.5"^^xsd:string, "NCI:C123200"^^xsd:string, "OMIM:PS256100"^^xsd:string, "ORDO:655"^^xsd:string, "SNOMEDCT_US_2021_03_01:204958008"^^xsd:string, "UMLS_CUI:C0687120"^^xsd:string ; oboInOwl:hasExactSynonym "medullary cystic disease"@en, "medullary cystic kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12712"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "nephronophthisis"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_557, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_12713 oboInOwl:hasExactSynonym "Medullary Sponge kidney"@en, "Medullary sponge kidney (disorder)"@en, "Sponge kidney"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12713"^^xsd:string ; a owl:Class ; rdfs:label "obsolete medullary sponge kidney"^^xsd:string ; owl:deprecated true . obo:DOID_12714 obo:IAO_0000115 "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2."^^xsd:string ; oboInOwl:hasDbXref "GARD:1301"^^xsd:string, "ICD10CM:Q77.6"^^xsd:string, "ICD9CM:756.55"^^xsd:string, "MESH:D004613"^^xsd:string, "NCI:C84684"^^xsd:string, "OMIM:225500"^^xsd:string, "SNOMEDCT_US_2021_03_01:62501005"^^xsd:string, "UMLS_CUI:C0013903"^^xsd:string ; oboInOwl:hasExactSynonym "Chondroectodermal dysplasia"@en, "Ellis-van Creveld syndrome"@en, "mesoectodermal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12714"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Ellis-Van Creveld syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0050737, obo:DOID_225, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:GENO_0000148 ] . obo:DOID_12715 oboInOwl:hasExactSynonym "Infective Myositis"@en, "Infective myositis"@en, "Infective myositis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12715"^^xsd:string ; a owl:Class ; rdfs:label "obsolete infectious myositis"^^xsd:string ; owl:deprecated true . obo:DOID_12716 obo:IAO_0000115 "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:11395"^^xsd:string, "DOID:13859"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:P22.0"^^xsd:string, "MESH:D006819"^^xsd:string, "OMIM:267450"^^xsd:string, "SNOMEDCT_US_2021_03_01:26168007"^^xsd:string, "UMLS_CUI:C0020192"^^xsd:string ; oboInOwl:hasExactSynonym "HMD - Hyaline membrane disease"@en, "Neonatal respiratory Distress syndrome"@en, "hyaline membrane disease"@en, "pulmonary hyaline membrane disease"@en, "pulmonary hypoperfusion syndrome of newborn"@en, "respiratory distress syndrome of newborn"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12716"^^xsd:string ; a owl:Class ; rdfs:label "newborn respiratory distress syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_11162 . obo:DOID_12718 obo:IAO_0000115 "A chronic salpingitis that is caused by gonorrhea."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:098.37"^^xsd:string, "SNOMEDCT_US_2021_03_01:53529004"^^xsd:string, "UMLS_CUI:C0153208"^^xsd:string ; oboInOwl:hasExactSynonym "Gonococcal salpingitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12718"^^xsd:string ; a owl:Class ; rdfs:label "chronic gonococcal salpingitis"^^xsd:string ; rdfs:subClassOf obo:DOID_5731 . obo:DOID_1272 oboInOwl:hasDbXref "MESH:D013684"^^xsd:string, "NCI:C28194"^^xsd:string, "SNOMEDCT_US_2021_03_01:112641009"^^xsd:string, "UMLS_CUI:C0039446"^^xsd:string ; oboInOwl:hasExactSynonym "telangiectasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1272"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "telangiectasis"^^xsd:string ; rdfs:subClassOf obo:DOID_341 . obo:DOID_12720 oboInOwl:hasDbXref "ICD10CM:I67.2"^^xsd:string, "ICD9CM:437.0"^^xsd:string, "MESH:D002537"^^xsd:string, "NCI:C34459"^^xsd:string, "SNOMEDCT_US_2021_03_01:266258005"^^xsd:string, "UMLS_CUI:C0007775"^^xsd:string ; oboInOwl:hasExactSynonym "Cerebral atherosclerosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12720"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cerebral atherosclerosis"^^xsd:string ; rdfs:subClassOf obo:DOID_1936 . obo:DOID_12721 obo:IAO_0000115 "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain."^^xsd:string ; oboInOwl:hasDbXref "GARD:10756"^^xsd:string, "ICD9CM:756.56"^^xsd:string, "MESH:D010009"^^xsd:string, "ORDO:251"^^xsd:string, "SNOMEDCT_US_2021_03_01:59708000"^^xsd:string, "UMLS_CUI:C0026760"^^xsd:string ; oboInOwl:hasExactSynonym "polyepiphyseal dysplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12721"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "multiple epiphyseal dysplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_2256, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000064 ] . obo:DOID_12722 oboInOwl:hasExactSynonym "malignant neoplasm of liver, specified as secondary"@en, "metastasis to liver"@en, "metastatic tumor to the Liver"@en, "secondary malignant neoplasm of liver (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12722"^^xsd:string ; a owl:Class ; rdfs:label "obsolete liver metastasis"^^xsd:string ; owl:deprecated true . obo:DOID_12723 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12723"^^xsd:string ; a owl:Class ; rdfs:label "obsolete lung carcinoma metastatic to the liver"^^xsd:string ; owl:deprecated true . obo:DOID_12724 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12724"^^xsd:string ; a owl:Class ; rdfs:label "obsolete breast arcinoma metastatic to the liver"^^xsd:string ; owl:deprecated true . obo:DOID_12727 oboInOwl:hasAlternativeId "DOID:12728"^^xsd:string, "DOID:12729"^^xsd:string, "DOID:12730"^^xsd:string ; oboInOwl:hasExactSynonym "Retroverted and incarcerated gravid uterus, delivered"@en, "Retroverted incarcerated gravid uterus - delivered"@en, "Retroverted incarcerated gravid uterus - delivered (disorder)"@en, "antepartum retroverted and incarcerated gravid uterus"@en, "postpartum retroverted and incarcerated gravid uterus"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12727"^^xsd:string ; a owl:Class ; rdfs:label "obsolete retroverted incarcerated gravid uterus"^^xsd:string ; owl:deprecated true . obo:DOID_1273 obo:IAO_0000115 "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress."^^xsd:string ; oboInOwl:hasDbXref "MESH:D018357"^^xsd:string, "NCI:C3354"^^xsd:string, "SNOMEDCT_US_2021_03_01:186750007"^^xsd:string, "UMLS_CUI:C0035235"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1273"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "respiratory syncytial virus infectious disease"^^xsd:string ; rdfs:subClassOf obo:DOID_934, [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_11250 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002451 ; owl:someValuesFrom [ a owl:Class ; owl:unionOf (obo:TRANS_0000008 obo:TRANS_0000011 ) ] ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000614 ] . obo:DOID_12731 oboInOwl:hasDbXref "GARD:7339"^^xsd:string, "ICD10CM:H30.2"^^xsd:string, "ICD9CM:363.21"^^xsd:string, "MESH:D015868"^^xsd:string, "NCI:C34903"^^xsd:string, "OMIM:606177"^^xsd:string, "SNOMEDCT_US_2021_03_01:193452008"^^xsd:string, "UMLS_CUI:C0030593"^^xsd:string ; oboInOwl:hasExactSynonym "Posterior cyclitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12731"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "pars planitis"^^xsd:string ; rdfs:subClassOf obo:DOID_8886 . obo:DOID_12732 oboInOwl:hasDbXref "MESH:D015867"^^xsd:string, "NCI:C35110"^^xsd:string, "SNOMEDCT_US_2021_03_01:314429009"^^xsd:string, "UMLS_CUI:C0042166"^^xsd:string ; oboInOwl:hasExactSynonym "chronic cyclitis"@en, "peripheral uveoretinitis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12732"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "intermediate uveitis"^^xsd:string ; rdfs:subClassOf obo:DOID_13141 . obo:DOID_12733 oboInOwl:hasDbXref "ICD10CM:K03.4"^^xsd:string, "ICD9CM:521.5"^^xsd:string, "MESH:D006936"^^xsd:string, "SNOMEDCT_US_2021_03_01:78537008"^^xsd:string, "UMLS_CUI:C0020441"^^xsd:string ; oboInOwl:hasExactSynonym "Cementation hyperplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12733"^^xsd:string ; a owl:Class ; rdfs:label "hypercementosis"^^xsd:string ; rdfs:subClassOf obo:DOID_214 . obo:DOID_12735 obo:IAO_0000115 "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abominal wall."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:N83.4"^^xsd:string, "ICD9CM:620.4"^^xsd:string, "UMLS_CUI:C0495094"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12735"^^xsd:string ; a owl:Class ; rdfs:label "hernia of ovary and fallopian tube"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_12739 obo:IAO_0000115 "A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12739"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete bronchial tuberculosis"^^xsd:string ; owl:deprecated true . obo:DOID_1275 obo:IAO_0000115 "A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1275"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pneumovirus infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_12750 obo:IAO_0000115 "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue."^^xsd:string ; oboInOwl:hasDbXref "GARD:9528"^^xsd:string, "ICD10CM:A07.4"^^xsd:string, "ICD9CM:007.5"^^xsd:string, "MESH:D021866"^^xsd:string, "NCI:C128409"^^xsd:string, "SNOMEDCT_US_2021_03_01:240372001"^^xsd:string, "UMLS_CUI:C0343398"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12750"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "cyclosporiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_2113, [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000458 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0019145 ] . obo:DOID_12753 oboInOwl:hasDbXref "ICD10CM:H18.72"^^xsd:string, "ICD9CM:371.73"^^xsd:string, "SNOMEDCT_US_2021_03_01:193849005"^^xsd:string, "UMLS_CUI:C0152440"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12753"^^xsd:string ; a owl:Class ; rdfs:label "corneal staphyloma"^^xsd:string ; rdfs:subClassOf obo:DOID_10124 . obo:DOID_12756 oboInOwl:hasDbXref "ICD9CM:190.7"^^xsd:string, "NCI:C3567"^^xsd:string, "SNOMEDCT_US_2021_03_01:93852003"^^xsd:string, "UMLS_CUI:C0153631"^^xsd:string ; oboInOwl:hasExactSynonym "malignant neoplasm of lacrimal duct"@en, "malignant tumor of lacrimal duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12756"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "lacrimal duct cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_292 . obo:DOID_12758 oboInOwl:hasExactSynonym "malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder)"@en, "malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12758"^^xsd:string ; a owl:Class ; rdfs:label "obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid"^^xsd:string ; owl:deprecated true . obo:DOID_12759 oboInOwl:hasAlternativeId "DOID:12760"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:C69.3"^^xsd:string, "ICD9CM:190.6"^^xsd:string, "MESH:D002830"^^xsd:string, "NCI:C2949"^^xsd:string, "NCI:C3566"^^xsd:string, "SNOMEDCT_US_2021_03_01:127001008"^^xsd:string, "SNOMEDCT_US_2021_03_01:93755007"^^xsd:string, "UMLS_CUI:C0008523"^^xsd:string, "UMLS_CUI:C0153630"^^xsd:string ; oboInOwl:hasExactSynonym "Choroidal tumor"@en, "choroid neoplasm"@en, "malignant tumor of choroid"@en, "malignant tumor of the Choroid"@en, "neoplasm of choroid"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12759"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "choroid cancer"^^xsd:string ; rdfs:subClassOf obo:DOID_1417, obo:DOID_3479 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_162 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001776 ] ) ] . obo:DOID_12763 obo:IAO_0000115 "A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet."^^xsd:string ; oboInOwl:hasExactSynonym "Kaposi's sarcoma Classical type"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12763"^^xsd:string ; a owl:Class ; rdfs:label "obsolete classic Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_12765 obo:IAO_0000115 "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common."^^xsd:string ; oboInOwl:hasExactSynonym "Peritonsillar abscess"@en, "Peritonsillar abscess (disorder)"@en, "Quinsy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12765"^^xsd:string ; a owl:Class ; rdfs:label "obsolete peritonsillar abscess"^^xsd:string ; owl:deprecated true . obo:DOID_12773 obo:IAO_0000115 "A Kaposi's sarcoma that is located_in black Africans."^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12773"^^xsd:string ; a owl:Class ; rdfs:label "obsolete endemic African Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_12779 obo:IAO_0000115 "A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes."^^xsd:string ; oboInOwl:hasExactSynonym "recurrent Multiple Hemorrhagic sarcoma"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12779"^^xsd:string ; a owl:Class ; rdfs:label "obsolete recurrent Kaposi's sarcoma"^^xsd:string ; owl:deprecated true . obo:DOID_1278 oboInOwl:hasDbXref "GARD:7777"^^xsd:string, "MESH:D020333"^^xsd:string, "NCI:C85193"^^xsd:string, "SNOMEDCT_US_2021_03_01:75111000"^^xsd:string, "UMLS_CUI:C0040381"^^xsd:string ; oboInOwl:hasExactSynonym "Tolosa-Hunt syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1278"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "tolosa-hunt syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_1279 . obo:DOID_12782 oboInOwl:hasDbXref "ICD9CM:374.14"^^xsd:string, "SNOMEDCT_US_2021_03_01:28914006"^^xsd:string, "UMLS_CUI:C0155196"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12782"^^xsd:string ; a owl:Class ; rdfs:label "cicatricial ectropion"^^xsd:string ; rdfs:subClassOf obo:DOID_1570 . obo:DOID_12783 obo:IAO_0000115 "A migraine that is characterized by migraine headaches that are not accompanied by an aura."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G43.0"^^xsd:string, "ICD9CM:346.1"^^xsd:string, "MESH:D020326"^^xsd:string, "NCI:C117004"^^xsd:string, "OMIM:607501"^^xsd:string, "SNOMEDCT_US_2021_03_01:56097005"^^xsd:string, "UMLS_CUI:C0338480"^^xsd:string ; oboInOwl:hasExactSynonym "common migraine"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12783"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "migraine without aura"^^xsd:string ; rdfs:subClassOf obo:DOID_6364 . obo:DOID_12784 oboInOwl:hasExactSynonym "Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations"@en, "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12784"^^xsd:string ; a owl:Class ; rdfs:label "obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations"^^xsd:string ; owl:deprecated true . obo:DOID_12785 oboInOwl:hasDbXref "ICD9CM:357.2"^^xsd:string, "MESH:D003929"^^xsd:string, "SNOMEDCT_US_2021_03_01:49455004"^^xsd:string, "UMLS_CUI:C0271680"^^xsd:string ; oboInOwl:hasExactSynonym "Diabetes mellitus with polyneuropathy"@en, "Diabetic polyneuropathy"@en, "Polyneuropathy in diabetes"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12785"^^xsd:string ; a owl:Class ; rdfs:label "diabetic polyneuropathy"^^xsd:string ; rdfs:subClassOf obo:DOID_9743 . obo:DOID_1279 oboInOwl:hasDbXref "GARD:7061"^^xsd:string, "GARD:7237"^^xsd:string, "ICD9CM:378.9"^^xsd:string, "MESH:D015835"^^xsd:string, "SNOMEDCT_US_2021_03_01:45030009"^^xsd:string, "UMLS_CUI:C0028850"^^xsd:string ; oboInOwl:hasExactSynonym "disorder of eye movements"@en, "eye movement disorder"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1279"^^xsd:string ; a owl:Class ; rdfs:label "ocular motility disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5614, obo:DOID_5656 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_5656 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] ) ] . obo:DOID_12796 oboInOwl:hasExactSynonym "Posterior synechiae (disorder)"@en, "Posterior synechiae of iris"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12796"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Posterior synechiae"^^xsd:string ; owl:deprecated true . obo:DOID_12797 obo:IAO_0000115 "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F16.1"^^xsd:string, "ICD9CM:305.3"^^xsd:string, "SNOMEDCT_US_2021_03_01:74851005"^^xsd:string, "UMLS_CUI:C0018526"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12797"^^xsd:string ; a owl:Class ; rdfs:label "hallucinogen abuse"^^xsd:string ; rdfs:subClassOf obo:DOID_302 . obo:DOID_12798 obo:IAO_0000115 "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14716"^^xsd:string ; oboInOwl:hasDbXref "GARD:7065"^^xsd:string, "ICD10CM:E76.3"^^xsd:string, "ICD9CM:277.5"^^xsd:string, "MESH:D009083"^^xsd:string, "NCI:C61259"^^xsd:string, "OMIM:252700"^^xsd:string, "OMIM:PS607014"^^xsd:string, "ORDO:79213"^^xsd:string, "SNOMEDCT_US_2021_03_01:267452003"^^xsd:string, "UMLS_CUI:C0026703"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12798"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]."""^^xsd:string ; rdfs:label "mucopolysaccharidosis"^^xsd:string ; rdfs:subClassOf obo:DOID_3211 . obo:DOID_12799 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase."^^xsd:string ; oboInOwl:hasDbXref "GARD:6675"^^xsd:string, "ICD10CM:E76.1"^^xsd:string, "MESH:D016532"^^xsd:string, "NCI:C61260"^^xsd:string, "OMIM:309900"^^xsd:string, "SNOMEDCT_US_2021_03_01:190936000"^^xsd:string, "UMLS_CUI:C0026705"^^xsd:string ; oboInOwl:hasExactSynonym "Hunter syndrome"@en, "Hunter's syndrome"@en, "MPS II - Hunter syndrome"@en, "Mucopolysaccharidosis, MPS-II"@en, "deficiency of iduronate-2-sulphatase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12799"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping submitted by NeuroDevNet. [LS]."^^xsd:string ; rdfs:label "mucopolysaccharidosis II"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_128 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:128"^^xsd:string ; a owl:Class ; rdfs:label "obsolete vaginal soft tissue tumor"^^xsd:string ; owl:deprecated true . obo:DOID_12800 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase."^^xsd:string ; oboInOwl:hasDbXref "GARD:7095"^^xsd:string, "MESH:D009087"^^xsd:string, "NCI:C61264"^^xsd:string, "OMIM:253200"^^xsd:string, "SNOMEDCT_US_2021_03_01:69463008"^^xsd:string, "UMLS_CUI:C0026709"^^xsd:string ; oboInOwl:hasExactSynonym "MPS VI - Maroteaux-Lamy syndrome"@en, "Maroteaux - Lamy syndrome"@en, "Maroteaux-Lamy syndrome"@en, "arylsulfatase B deficiency"@en, "deficiency of N-acetylgalactosamine-4-sulfatase"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12800"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucopolysaccharidosis VI"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12801 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:14729"^^xsd:string, "DOID:14788"^^xsd:string ; oboInOwl:hasDbXref "MESH:D009084"^^xsd:string, "NCI:C61262"^^xsd:string, "OMIM:252940"^^xsd:string, "ORDO:581"^^xsd:string, "SNOMEDCT_US_2021_03_01:190936000"^^xsd:string, "UMLS_CUI:C0026706"^^xsd:string ; oboInOwl:hasExactSynonym "Mucopolysaccharidosis, MPS-III"@en, "N-sulphoglucosamine sulphohydrolase deficiency"@en, "Sanfilippo's syndrome"@en, "heparan sulfate sulfatase deficiency"@en ; oboInOwl:hasNarrowSynonym "naglu deficiency"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12801"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucopolysaccharidosis III"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12802 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase."^^xsd:string ; oboInOwl:hasDbXref "GARD:10335"^^xsd:string, "ICD10CM:E76.0"^^xsd:string, "MESH:D008059"^^xsd:string, "NCI:C85053"^^xsd:string, "SNOMEDCT_US_2021_03_01:267453008"^^xsd:string, "UMLS_CUI:C0023786"^^xsd:string ; oboInOwl:hasExactSynonym "Hurler syndrome"@en, "Hurler-Scheie syndrome"@en, "Lipochondrodystrophy"@en, "MPS I - Hurler syndrome"@en, "Mucopolysaccharidosis, MPS-I"@en, "Mucopolysaccharidosis, type 1"@en, "iduronidase deficiency disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12802"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucopolysaccharidosis I"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12803 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.29"^^xsd:string, "MESH:D016538"^^xsd:string, "NCI:C84903"^^xsd:string, "OMIM:253220"^^xsd:string, "SNOMEDCT_US_2021_03_01:43916004"^^xsd:string, "UMLS_CUI:C0085132"^^xsd:string ; oboInOwl:hasExactSynonym "MPS VII - Sly syndrome"@en, "beta-glucuronidase deficiency"@en, "deficiency of beta-glucuronidase"@en, "mucopolysaccharidosis VII"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12803"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Sly syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12804 obo:IAO_0000115 "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:0050808"^^xsd:string, "DOID:14767"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:E76.219"^^xsd:string, "MESH:D009085"^^xsd:string, "NCI:C61263"^^xsd:string, "SNOMEDCT_US_2021_03_01:378007"^^xsd:string, "UMLS_CUI:C0026707"^^xsd:string ; oboInOwl:hasExactSynonym "Mucopolysaccharidosis, MPS-IV"@en, "deficiency of N-acetylgalactosamine-6-sulphatase"@en, "deficiency of chondroitinsulphatase"@en, "galactosamine-6-sulfatase deficiency"@en ; oboInOwl:hasNarrowSynonym "Osteochondrodystrophy"@en, "chondroosteodystrophy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12804"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "mucopolysaccharidosis IV"^^xsd:string ; rdfs:subClassOf obo:DOID_12798 . obo:DOID_12809 oboInOwl:hasDbXref "ICD10CM:H04.03"^^xsd:string, "ICD9CM:375.03"^^xsd:string, "SNOMEDCT_US_2021_03_01:4839005"^^xsd:string, "UMLS_CUI:C1300133"^^xsd:string ; oboInOwl:hasExactSynonym "chronic enlargement of lacrimal gland"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12809"^^xsd:string ; a owl:Class ; rdfs:label "chronic lacrimal gland enlargement"^^xsd:string ; rdfs:subClassOf obo:DOID_950, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001817 ] . obo:DOID_12819 obo:IAO_0000115 "A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain."^^xsd:string ; oboInOwl:hasExactSynonym "intestinal infectious disease due to clostridium difficile"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12819"^^xsd:string ; oboInOwl:inSubset doid:gram-positive_bacterial_infectious_disease ; a owl:Class ; rdfs:label "obsolete Clostridium difficile intestinal infectious disease"^^xsd:string ; owl:deprecated true . obo:DOID_1283 obo:IAO_0000115 "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:K46"^^xsd:string, "ICD9CM:618.6"^^xsd:string, "MESH:D006547"^^xsd:string, "SNOMEDCT_US_2021_03_01:47671001"^^xsd:string, "UMLS_CUI:C0205792"^^xsd:string ; oboInOwl:hasExactSynonym "vaginal enterocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1283"^^xsd:string ; a owl:Class ; rdfs:label "enterocele"^^xsd:string ; rdfs:subClassOf obo:DOID_1284 . obo:DOID_12835 oboInOwl:hasDbXref "ICD10CM:G82.5"^^xsd:string, "ICD9CM:344.00"^^xsd:string, "MESH:D011782"^^xsd:string, "NCI:C50721"^^xsd:string, "SNOMEDCT_US_2021_03_01:11538006"^^xsd:string, "UMLS_CUI:C0034372"^^xsd:string ; oboInOwl:hasExactSynonym "tetraplegia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12835"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "quadriplegia"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_12836 oboInOwl:hasDbXref "ICD9CM:374.01"^^xsd:string, "SNOMEDCT_US_2021_03_01:55408009"^^xsd:string, "UMLS_CUI:C0155188"^^xsd:string ; oboInOwl:hasExactSynonym "Involutional entropion"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12836"^^xsd:string ; a owl:Class ; rdfs:label "senile entropion"^^xsd:string ; rdfs:subClassOf obo:DOID_12397 . obo:DOID_12837 oboInOwl:hasDbXref "MESH:D013958"^^xsd:string, "NCI:C112836"^^xsd:string, "SNOMEDCT_US_2021_03_01:190262002"^^xsd:string, "UMLS_CUI:C0040127"^^xsd:string ; oboInOwl:hasExactSynonym "Thyroid crisis"@en, "Thyrotoxic crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12837"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "thyroid crisis"^^xsd:string ; rdfs:subClassOf obo:DOID_50 . obo:DOID_12838 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12838"^^xsd:string ; a owl:Class ; rdfs:label "obsolete secondary thyroid hyperplasia"^^xsd:string ; owl:deprecated true . obo:DOID_12839 oboInOwl:hasAlternativeId "DOID:12943"^^xsd:string, "DOID:12944"^^xsd:string ; oboInOwl:hasExactSynonym "Thyrotoxicosis from ectopic thyroid nodule NOS (disorder)"@en, "Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder)"@en, "Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm"@en, "Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder)"@en, "Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm"@en, "hyperthyroidism due to ectopic thyroid nodule (disorder)"@en, "thyrotoxicosis from ectopic thyroid nodule with crisis"@en, "thyrotoxicosis from ectopic thyroid nodule with no crisis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12839"^^xsd:string ; a owl:Class ; rdfs:label "obsolete thyrotoxicosis from ectopic thyroid nodule"^^xsd:string ; owl:deprecated true . obo:DOID_1284 obo:IAO_0000115 "A female reproductive system disease that is characteried by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening."^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:618.8"^^xsd:string, "UMLS_CUI:C0029801"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1284"^^xsd:string ; a owl:Class ; rdfs:label "prolapse of female genital organ"^^xsd:string ; rdfs:subClassOf obo:DOID_229 . obo:DOID_12840 obo:IAO_0000115 "An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine."^^xsd:string ; oboInOwl:hasExactSynonym "Ancylostomiasis due to Ancylostoma ceylonicum (disorder)"@en, "Ancylostomiasis due to ancylostoma ceylanicum"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12840"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Ancylostoma ceylanicum ancylostomiasis"^^xsd:string ; owl:deprecated true . obo:DOID_12841 obo:IAO_0000115 "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition."^^xsd:string ; oboInOwl:hasDbXref "GARD:9742"^^xsd:string, "ICD10CM:B76.0"^^xsd:string, "MESH:D000724"^^xsd:string, "NCI:C35805"^^xsd:string, "SNOMEDCT_US_2021_03_01:85807000"^^xsd:string, "UMLS_CUI:C0002831"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12841"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "ancylostomiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_37, obo:DOID_5614, obo:DOID_883, [ a owl:Class ; owl:intersectionOf ([ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000014 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000970 ] [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002075 ] ) ], [ a owl:Restriction ; owl:onProperty obo:IDO_0000664 ; owl:someValuesFrom obo:NCBITaxon_29169 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000007 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000208 ], [ a owl:Restriction ; owl:onProperty obo:RO_0002452 ; owl:someValuesFrom obo:SYMP_0000570 ] ; skos:exactMatch "MESH:D000724"^^xsd:string . obo:DOID_12842 obo:IAO_0000115 "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system."^^xsd:string ; oboInOwl:hasDbXref "GARD:6554"^^xsd:string, "ICD10CM:G61.0"^^xsd:string, "MESH:D020275"^^xsd:string, "NCI:C116345"^^xsd:string, "OMIM:139393"^^xsd:string, "SNOMEDCT_US_2021_03_01:155082001"^^xsd:string, "UMLS_CUI:C0018378"^^xsd:string ; oboInOwl:hasExactSynonym "Infectious neuronitis"@en, "Post-infectious polyneuritis"@en, "Postinfectious polyneuritis"@en, "acute infective polyneuritis"@en, "acute inflammatory demyelinating polyradiculopathy"^^xsd:string, "acute postinfectious polyneuropathy"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12842"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [SN]."^^xsd:string ; rdfs:label "Guillain-Barre syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060033, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0000010 ] . obo:DOID_12843 oboInOwl:hasExactSynonym "Polyneuritis (disorder)"@en, "multiple peripheral neuritis"@en, "polyneuritis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12843"^^xsd:string ; a owl:Class ; rdfs:label "obsolete polyneuritis"^^xsd:string ; owl:deprecated true . obo:DOID_12849 obo:IAO_0000115 "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years."^^xsd:string ; oboInOwl:hasDbXref "EFO:0003758"^^xsd:string, "ICD10CM:F84.0"^^xsd:string, "ICD9CM:299.0"^^xsd:string, "MESH:D001321"^^xsd:string, "NCI:C97161"^^xsd:string, "OMIM:209850"^^xsd:string, "ORDO:106"^^xsd:string, "SNOMEDCT_US_2021_03_01:38763009"^^xsd:string, "UMLS_CUI:C0004352"^^xsd:string ; oboInOwl:hasExactSynonym "Kanner's syndrome"@en, "autism"@en, "autistic disorder of childhood onset"@en, "childhood autism"@en, "infantile autism"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12849"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:comment """Xref MGI. OMIM mapping confirmed by DO. [SN]."""^^xsd:string ; rdfs:label "autistic disorder"^^xsd:string ; rdfs:subClassOf obo:DOID_0060041, [ a owl:Restriction ; owl:onProperty obo:RO_0002200 ; owl:someValuesFrom obo:HP_0000750 ] . obo:DOID_1285 oboInOwl:hasDbXref "MESH:D012002"^^xsd:string, "SNOMEDCT_US_2021_03_01:5964004"^^xsd:string, "UMLS_CUI:C0034882"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1285"^^xsd:string ; a owl:Class ; rdfs:label "rectal disease"^^xsd:string ; rdfs:subClassOf obo:DOID_5295 . obo:DOID_12852 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12852"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions of drum head to incus"^^xsd:string ; owl:deprecated true . obo:DOID_12853 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12853"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions of drum head to promontorium"^^xsd:string ; owl:deprecated true . obo:DOID_12854 oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12854"^^xsd:string ; a owl:Class ; rdfs:label "obsolete adhesions of drum head to stapes"^^xsd:string ; owl:deprecated true . obo:DOID_12857 oboInOwl:hasDbXref "ICD10CM:M76.6"^^xsd:string, "SNOMEDCT_US_2021_03_01:202879008"^^xsd:string, "UMLS_CUI:C0149846"^^xsd:string ; oboInOwl:hasExactSynonym "Achilles bursitis or tendinitis"@en, "Capped hock"@en, "Haglund's deformity"@en, "Haglund's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12857"^^xsd:string ; a owl:Class ; rdfs:label "Achilles bursitis"^^xsd:string ; rdfs:subClassOf obo:DOID_2965 . obo:DOID_12858 obo:IAO_0000115 "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities."^^xsd:string ; oboInOwl:hasDbXref "GARD:6677"^^xsd:string, "ICD10CM:G10"^^xsd:string, "ICD9CM:333.4"^^xsd:string, "KEGG:05016"^^xsd:string, "MESH:D006816"^^xsd:string, "NCI:C82342"^^xsd:string, "OMIM:143100"^^xsd:string, "SNOMEDCT_US_2021_03_01:58756001"^^xsd:string, "UMLS_CUI:C0020179"^^xsd:string ; oboInOwl:hasExactSynonym "HD"@en, "Huntington disease"@en, "Huntington's chorea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12858"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "Huntington's disease"^^xsd:string ; rdfs:subClassOf obo:DOID_1289 . obo:DOID_12859 obo:IAO_0000115 "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G25.5"^^xsd:string, "OMIM:118700"^^xsd:string, "OMIM:215450"^^xsd:string, "ORDO:1429"^^xsd:string ; oboInOwl:hasExactSynonym "chorea"@en, "hereditary chorea"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12859"^^xsd:string ; oboInOwl:inSubset doid:DO_rare_slim ; a owl:Class ; rdfs:comment "Xref MGI."^^xsd:string ; rdfs:label "choreatic disease"^^xsd:string ; rdfs:subClassOf obo:DOID_480 . obo:DOID_12860 oboInOwl:hasExactSynonym "Non-neoplastic nevus"@en, "Non-neoplastic nevus (disorder)"@en, "Non-neoplastic nevus NOS (disorder)"@en, "Non-neoplastic nevus of skin (disorder)"@en, "Non-neoplastic nevus of skin (disorder) [Ambiguous]"@en, "nevus, non-neoplastic"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12860"^^xsd:string ; a owl:Class ; rdfs:label "obsolete non-neoplastic nevus of skin"^^xsd:string ; owl:deprecated true . obo:DOID_12863 oboInOwl:hasExactSynonym "Senile naevus"@en, "Senile nevus"@en, "Senile nevus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12863"^^xsd:string ; a owl:Class ; rdfs:label "obsolete senile nevus"^^xsd:string ; owl:deprecated true . obo:DOID_12864 oboInOwl:hasExactSynonym "Acrosyringeal nevus"@en, "Acrosyringeal nevus (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12864"^^xsd:string ; a owl:Class ; rdfs:label "obsolete acrosyringeal nevus"^^xsd:string ; owl:deprecated true . obo:DOID_1287 obo:IAO_0000115 "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:73"^^xsd:string ; oboInOwl:hasDbXref "ICD9CM:429.2"^^xsd:string, "MESH:D002318"^^xsd:string, "NCI:C2931"^^xsd:string, "SNOMEDCT_US_2021_03_01:266275004"^^xsd:string, "UMLS_CUI:C0007222"^^xsd:string ; oboInOwl:hasExactSynonym "disease of subdivision of hemolymphoid system"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1287"^^xsd:string ; oboInOwl:inSubset doid:DO_AGR_slim, doid:DO_GXD_slim, doid:DO_MGI_slim, doid:DO_RAD_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "cardiovascular system disease"^^xsd:string ; rdfs:subClassOf obo:DOID_7 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0004535 ] ) ] . obo:DOID_12879 oboInOwl:hasExactSynonym "Exudative cyst of pars plana"@en, "Exudative cyst of pars plana (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12879"^^xsd:string ; a owl:Class ; rdfs:label "obsolete Pars plana exudative cyst"^^xsd:string ; owl:deprecated true . obo:DOID_12881 oboInOwl:hasExactSynonym "Idiopathic urticaria (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12881"^^xsd:string ; a owl:Class ; rdfs:label "obsolete idiopathic urticaria"^^xsd:string ; owl:deprecated true . obo:DOID_12883 obo:IAO_0000115 "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness."^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:F45.21"^^xsd:string, "ICD9CM:300.7"^^xsd:string, "MESH:D006998"^^xsd:string, "NCI:C9493"^^xsd:string, "SNOMEDCT_US_2021_03_01:18193002"^^xsd:string, "UMLS_CUI:C0020604"^^xsd:string ; oboInOwl:hasExactSynonym "Hypochondria"@en, "Hypochondriacal disorder"@en, "hypochondriacal neurosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12883"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "hypochondriasis"^^xsd:string ; rdfs:subClassOf obo:DOID_4737 . obo:DOID_12888 obo:IAO_0000115 "An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum."^^xsd:string ; oboInOwl:hasExactSynonym "Ornithosis with pneumonia"@en, "Ornithosis with pneumonia (disorder)"@en, "louisiana pneumonia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12888"^^xsd:string ; oboInOwl:inSubset doid:gram-negative_bacterial_infectious_disease, doid:zoonotic_infectious_disease ; a owl:Class ; rdfs:label "obsolete Chlamydophila psittaci pneumonia"^^xsd:string ; owl:deprecated true . obo:DOID_12889 obo:IAO_0000115 "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia."^^xsd:string ; oboInOwl:hasDbXref "GARD:3668"^^xsd:string, "ICD10CM:G61.0"^^xsd:string, "MESH:D019846"^^xsd:string, "NCI:C116958"^^xsd:string, "SNOMEDCT_US_2021_03_01:1767005"^^xsd:string, "UMLS_CUI:C0393799"^^xsd:string ; oboInOwl:hasExactSynonym "Fisher's syndrome"@en, "Miller-Fisher variant of Guillain-Barre syndrome"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12889"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Miller Fisher syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_12842 . obo:DOID_1289 obo:IAO_0000115 "A central nervous system disease that results in the progressive deterioration of function or structure of neurons."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:4874"^^xsd:string ; oboInOwl:hasDbXref "ICD10CM:G31.9"^^xsd:string, "MESH:D019636"^^xsd:string, "NCI:C27090"^^xsd:string, "SNOMEDCT_US_2021_03_01:362975008"^^xsd:string, "UMLS_CUI:C0524851"^^xsd:string, "UMLS_CUI:C1285162"^^xsd:string ; oboInOwl:hasExactSynonym "Neurodegenerative disease"@en, "degenerative disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:1289"^^xsd:string ; oboInOwl:inSubset doid:DO_FlyBase_slim, doid:NCIthesaurus ; a owl:Class ; rdfs:label "neurodegenerative disease"^^xsd:string ; rdfs:subClassOf obo:DOID_331 . obo:DOID_12894 obo:IAO_0000115 "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva."^^xsd:string ; oboInOwl:hasAlternativeId "DOID:416"^^xsd:string ; oboInOwl:hasDbXref "GARD:10252"^^xsd:string, "ICD10CM:M35.0"^^xsd:string, "ICD10CM:M35.00"^^xsd:string, "ICD9CM:710.2"^^xsd:string, "MESH:D012859"^^xsd:string, "NCI:C26883"^^xsd:string, "NCI:C70647"^^xsd:string, "OMIM:270150"^^xsd:string, "SNOMEDCT_US_2021_03_01:267875002"^^xsd:string, "SNOMEDCT_US_2021_03_01:83901003"^^xsd:string, "UMLS_CUI:C0086981"^^xsd:string, "UMLS_CUI:C1527336"^^xsd:string ; oboInOwl:hasExactSynonym "Sicca syndrome"@en, "Sjogren syndrome"@en, "xerodermosteosis"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12894"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "Sjogren's syndrome"^^xsd:string ; rdfs:subClassOf obo:DOID_0060029, [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0002330 ] . obo:DOID_12895 oboInOwl:hasDbXref "GARD:8444"^^xsd:string, "MESH:D007638"^^xsd:string, "SNOMEDCT_US_2021_03_01:78946008"^^xsd:string, "UMLS_CUI:C0022575"^^xsd:string ; oboInOwl:hasExactSynonym "KCS"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12895"^^xsd:string ; a owl:Class ; rdfs:label "keratoconjunctivitis sicca"^^xsd:string ; rdfs:subClassOf obo:DOID_10140 . obo:DOID_12897 oboInOwl:hasDbXref "MESH:D013364"^^xsd:string, "UMLS_CUI:C0038557"^^xsd:string ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12897"^^xsd:string ; a owl:Class ; rdfs:label "submandibular gland disease"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 ; owl:equivalentClass [ a owl:Class ; owl:intersectionOf (obo:DOID_4 [ a owl:Restriction ; owl:onProperty obo:RO_0004026 ; owl:someValuesFrom obo:UBERON_0001736 ] ) ] . obo:DOID_12899 oboInOwl:hasDbXref "ICD10CM:K11.8"^^xsd:string, "NCI:C3949"^^xsd:string, "SNOMEDCT_US_2021_03_01:45517002"^^xsd:string, "UMLS_CUI:C0266995"^^xsd:string ; oboInOwl:hasExactSynonym "Godwin tumor"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12899"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "benign lymphoepithelial lesion of salivary gland"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12900 obo:IAO_0000115 "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection."^^xsd:string ; oboInOwl:hasDbXref "GARD:7043"^^xsd:string, "ICD10CM:K11.8"^^xsd:string, "MESH:D008882"^^xsd:string, "NCI:C34819"^^xsd:string, "SNOMEDCT_US_2021_03_01:7826003"^^xsd:string, "UMLS_CUI:C0026103"^^xsd:string ; oboInOwl:hasExactSynonym "IgG4-related dacryoadenitis and sialadenitis"@en, "Mikulicz's disease"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12900"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "Mikulicz disease"^^xsd:string ; rdfs:subClassOf obo:DOID_417 . obo:DOID_12901 oboInOwl:hasDbXref "ICD10CM:K11.8"^^xsd:string, "MESH:D012797"^^xsd:string, "SNOMEDCT_US_2021_03_01:109769000"^^xsd:string, "UMLS_CUI:C0037033"^^xsd:string ; oboInOwl:hasExactSynonym "Necrotizing sialometaplasia"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12901"^^xsd:string ; a owl:Class ; rdfs:label "necrotizing sialometaplasia"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12904 oboInOwl:hasDbXref "ICD10CM:K11.6"^^xsd:string, "ICD9CM:527.6"^^xsd:string, "NCI:C27649"^^xsd:string, "SNOMEDCT_US_2021_03_01:196508008"^^xsd:string, "UMLS_CUI:C0026686"^^xsd:string ; oboInOwl:hasExactSynonym "Mucous retention cyst of salivary gland"@en, "Ranula"@en, "Salivary Cyst"@en, "Salivary gland mucocele"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12904"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:label "mucocele of salivary gland"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12905 oboInOwl:hasDbXref "ICD10CM:K11.5"^^xsd:string, "ICD9CM:527.5"^^xsd:string, "MESH:D015494"^^xsd:string, "SNOMEDCT_US_2021_03_01:155656006"^^xsd:string, "UMLS_CUI:C0036091"^^xsd:string ; oboInOwl:hasExactSynonym "Salivary gland Stone"@en, "Sialolith"@en, "Stone of salivary gland or duct"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12905"^^xsd:string ; a owl:Class ; rdfs:label "sialolithiasis"^^xsd:string ; rdfs:subClassOf obo:DOID_10854 . obo:DOID_12910 oboInOwl:hasExactSynonym "Sickle cell-hemoglobin C disease with crisis (disorder)"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12910"^^xsd:string ; a owl:Class ; rdfs:label "obsolete sickle-cell/Hb-C disease with crisis"^^xsd:string ; owl:deprecated true . obo:DOID_12918 oboInOwl:hasDbXref "ICD10CM:I73.1"^^xsd:string, "ICD9CM:443.1"^^xsd:string, "MESH:D013919"^^xsd:string, "NCI:C35070"^^xsd:string, "OMIM:211480"^^xsd:string, "SNOMEDCT_US_2021_03_01:195298008"^^xsd:string, "UMLS_CUI:C0040021"^^xsd:string ; oboInOwl:hasExactSynonym "Buerger's disease"@en, "Presenile gangrene"@en, "Thromboangiitis obliterans"@en ; oboInOwl:hasOBONamespace "disease_ontology"^^xsd:string ; oboInOwl:id "DOID:12918"^^xsd:string ; oboInOwl:inSubset doid:NCIthesaurus ; a owl:Class ; rdfs:comment "OMIM mapping confirmed by DO. [LS]."^^xsd:string ; rdfs:label "thromboangiitis ob