@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.