@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: <http://eulersharp.sourceforge.net/2003/03swap/event#>.
@prefix organism: <http://eulersharp.sourceforge.net/2003/03swap/organism#>.
@prefix genomab: <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>.

<http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	rdfs:label """aneuploidy"""@en;
	skos:definition """Numerical chromosome abnormality."""@en;
	rdfs:subClassOf genomab:ChromosomeAbnormality.

genomab:ChromosomeMutation
	a rdfs:Class;
	rdfs:isDefinedBy <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	rdfs:label """chromosome mutation"""@en;
	skos:definition """Structural chromosome abnormality."""@en;
	rdfs:subClassOf genomab:ChromosomeAbnormality.

genomab:SingleChromosomeMutation
	a rdfs:Class;
	rdfs:isDefinedBy <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
	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 <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>;
#	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.