@base <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix dce: <http://purl.org/dc/elements/1.1/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix event: <event#> .
@prefix organism: <organism#> .
@prefix genomab: <> .

<>
    dce:creator "Hans Cools, MD, Agfa Healthcare/Belgium"@en ;
    dce:description "Formal general description of genome abnormality."@en ;
    dce:format "OWL Full"@en ;
    dce:publisher "Agfa Healthcare/Belgium"@en ;
    dce:title "Genome Abnormality"@en ;
    a owl:Ontology .

genomab:Aneuploidy
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "aneuploidy"@en ;
    rdfs:subClassOf genomab:ChromosomeAbnormality ;
    skos:definition "Numerical chromosome abnormality."@en .

genomab:ChromosomeAbnormality
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "chromosome abnormality"@en ;
    rdfs:subClassOf genomab:GenomeAbnormality ;
    skos:definition "Chromosome different from what is normal for an organism."@en .

genomab:ChromosomeDeletion
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "chromosome deletion"@en ;
    rdfs:subClassOf genomab:SingleChromosomeMutation ;
    skos:definition "Loss of part of 1 chromosome."@en .

genomab:ChromosomeDuplication
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "chromosome duplication"@en ;
    rdfs:subClassOf genomab:SingleChromosomeMutation ;
    skos:definition "Duplication of part of 1 chromosome."@en .

genomab:ChromosomeInsertion
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "chromosome insertion"@en ;
    rdfs:subClassOf genomab:TwoChromosomeMutation ;
    skos:definition "Part of one chromosome inserted into another chromosome."@en .

genomab:ChromosomeInversion
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "chromosome inversion"@en ;
    rdfs:subClassOf genomab:SingleChromosomeMutation ;
    skos:definition "Inversion of part of 1 chromosome."@en .

genomab:ChromosomeMutation
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "chromosome mutation"@en ;
    rdfs:subClassOf genomab:ChromosomeAbnormality ;
    skos:definition "Structural chromosome abnormality."@en .

genomab:ChromosomeTranslocation
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "chromosome translocation"@en ;
    rdfs:subClassOf genomab:TwoChromosomeMutation ;
    skos:definition "One part of 2 chromosomes exchanged."@en .

genomab:GeneAbnormality
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "gene abnormality"@en ;
    rdfs:subClassOf genomab:GenomeAbnormality ;
    skos:definition "Gene different from what is normal for an organism."@en .

genomab:GenomeAbnormality
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "genome abnormality"@en ;
    rdfs:subClassOf [
        a owl:Restriction ;
        owl:onProperty event:modificationOf ;
        owl:someValuesFrom organism:Genome
    ] ;
    skos:definition "Genome different from what is normal for an organism."@en .

genomab:MonogenicMutation
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "monogenic mutation"@en ;
    rdfs:subClassOf genomab:GeneAbnormality ;
    skos:definition "One gene different from what is normal for an organism."@en .

genomab:Mutated
    a event:State, rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "mutated"@en ;
    rdfs:subClassOf event:State ;
    skos:definition "State of chromosome or gene being structurally changed."@en .

genomab:PolygenicMutation
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "polygenic mutation"@en ;
    rdfs:subClassOf genomab:GeneAbnormality ;
    skos:definition "More than one gene different from what is normal for an organism."@en .

genomab:SingleChromosomeMutation
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "single chromosome mutation"@en ;
    rdfs:subClassOf genomab:ChromosomeMutation ;
    skos:definition "Structural abnormality of 1 chromosome."@en .

genomab:TwoChromosomeMutation
    a rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "two chromosome mutation"@en ;
    rdfs:subClassOf genomab:ChromosomeMutation ;
    skos:definition "Structural abnormality of 2 chromosomes."@en .

genomab:Unmutated
    a event:State, rdfs:Class ;
    rdfs:isDefinedBy <> ;
    rdfs:label "unmutated"@en ;
    rdfs:subClassOf event:State ;
    skos:definition "State of chromosome or gene being structurally unchanged."@en .