@prefix dce: . @prefix owl: . @prefix rdfs: . @prefix skos: . @prefix event: . @prefix organism: . @prefix genomab: . a owl:Ontology; dce:title """Genome Abnormality"""@en; dce:creator """Hans Cools, MD, Agfa Healthcare/Belgium"""@en; dce:publisher """Agfa Healthcare/Belgium"""@en; dce:description """Formal general description of genome abnormality."""@en; dce:format """OWL Full"""@en. # # CLASSES # genomab:GenomeAbnormality a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """genome abnormality"""@en; skos:definition """Genome different from what is normal for an organism."""@en; rdfs:subClassOf [ a owl:Restriction; owl:onProperty event:modificationOf; owl:someValuesFrom organism:Genome]. genomab:ChromosomeAbnormality a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """chromosome abnormality"""@en; skos:definition """Chromosome different from what is normal for an organism."""@en; rdfs:subClassOf genomab:GenomeAbnormality. genomab:Aneuploidy a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """aneuploidy"""@en; skos:definition """Numerical chromosome abnormality."""@en; rdfs:subClassOf genomab:ChromosomeAbnormality. genomab:ChromosomeMutation a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """chromosome mutation"""@en; skos:definition """Structural chromosome abnormality."""@en; rdfs:subClassOf genomab:ChromosomeAbnormality. genomab:SingleChromosomeMutation a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """single chromosome mutation"""@en; skos:definition """Structural abnormality of 1 chromosome."""@en; rdfs:subClassOf genomab:ChromosomeMutation. genomab:ChromosomeDeletion a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """chromosome deletion"""@en; skos:definition """Loss of part of 1 chromosome."""@en; rdfs:subClassOf genomab:SingleChromosomeMutation. genomab:ChromosomeDuplication a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """chromosome duplication"""@en; skos:definition """Duplication of part of 1 chromosome."""@en; rdfs:subClassOf genomab:SingleChromosomeMutation. genomab:ChromosomeInversion a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """chromosome inversion"""@en; skos:definition """Inversion of part of 1 chromosome."""@en; rdfs:subClassOf genomab:SingleChromosomeMutation. genomab:TwoChromosomeMutation a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """two chromosome mutation"""@en; skos:definition """Structural abnormality of 2 chromosomes."""@en; rdfs:subClassOf genomab:ChromosomeMutation. genomab:ChromosomeInsertion a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """chromosome insertion"""@en; skos:definition """Part of one chromosome inserted into another chromosome."""@en; rdfs:subClassOf genomab:TwoChromosomeMutation. genomab:ChromosomeTranslocation a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """chromosome translocation"""@en; skos:definition """One part of 2 chromosomes exchanged."""@en; rdfs:subClassOf genomab:TwoChromosomeMutation. genomab:GeneAbnormality a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """gene abnormality"""@en; skos:definition """Gene different from what is normal for an organism."""@en; rdfs:subClassOf genomab:GenomeAbnormality. genomab:MonogenicMutation a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """monogenic mutation"""@en; skos:definition """One gene different from what is normal for an organism."""@en; rdfs:subClassOf genomab:GeneAbnormality. genomab:PolygenicMutation a rdfs:Class; rdfs:isDefinedBy ; rdfs:label """polygenic mutation"""@en; skos:definition """More than one gene different from what is normal for an organism."""@en; rdfs:subClassOf genomab:GeneAbnormality. genomab:Mutated a rdfs:Class, event:State; rdfs:isDefinedBy ; rdfs:label """mutated"""@en; skos:definition """State of chromosome or gene being structurally changed."""@en; rdfs:subClassOf event:State. genomab:Unmutated a rdfs:Class, event:State; rdfs:isDefinedBy ; rdfs:label """unmutated"""@en; skos:definition """State of chromosome or gene being structurally unchanged."""@en; rdfs:subClassOf event:State. # # PROPERTIES # #genomab:mutationOf # a owl:ObjectProperty; # rdfs:isDefinedBy ; # rdfs:label """mutation of"""@en; # skos:definition """Specifying a chromosome or gene having a mutation."""@en; # rdfs:domain owl:unionOf (genomab:ChromosomeMutation genomab:GeneAbnormality); # rdfs:range humana:DNA.