# Saved by TopBraid on Tue Nov 01 08:23:32 EET 2011
# baseURI: http://purl.org/varioml/genetic_origin/skos/1.0/
# imports: http://purl.org/dc/elements/1.1/
# imports: http://www.w3.org/2004/02/skos/core

@prefix dc:      <http://purl.org/dc/elements/1.1/> .
@prefix dct:     <http://purl.org/dc/terms/> .
@prefix owl:     <http://www.w3.org/2002/07/owl#> .
@prefix rdf:     <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs:    <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos:    <http://www.w3.org/2004/02/skos/core#> .
@prefix vml:     <http://purl.org/varioml/genetic_origin/skos/1.0/> .
@prefix xml:     <http://www.w3.org/XML/1998/namespace> .
@prefix xs:      <http://www.w3.org/2001/XMLSchema> .
@prefix xsd:     <http://www.w3.org/2001/XMLSchema#> .

<http://purl.org/varioml/genetic_origin/skos/1.0/>
      rdf:type owl:Ontology ;
      owl:imports <http://www.w3.org/2004/02/skos/core> , <http://purl.org/dc/elements/1.1/> .


vml:g2p
      rdf:type skos:ConceptScheme ;
      dc:creator "Juha Muilu <juha.muilu@helsinki.fi>" ;
      dc:description "Genetic origin of mutation. Vocabulary is developed as part of the Gen2phen program. Content is derived mainly from the LOVD'." ;
      skos:note "Original Genetic origin concept has been normalized into three parts: Type, parental origin and evidence code";
      dc:title "Genetic origin" .

vml:g_9991
      rdf:type skos:TopConcept ;
      skos:inScheme vml:g2p  ;
      skos:description "Genetic origin or type of mutation (de-novo, inherited, somatic)";
      skos:prefLabel "Genetic origin"@en .

vml:g_9992
      rdf:type skos:TopConcept ;
      skos:inScheme vml:g2p  ;
      skos:description "Parental source of mutation (maternal, paternal..) " ;
      skos:prefLabel "Source"@en .


#
# Type of mutation (genetic source)
#

      
vml:g_0001
      rdf:type skos:Concept ;
      skos:broader vml:g_9991 ;
      skos:closeMatch vml:g_9007;
      skos:definition "Inherited mutation";
      skos:note "Inherited has germline as closeMatch with inherited"@en;
      skos:inScheme vml:g2p ;
      skos:prefLabel "Inherited"@en .

vml:g_0002
      rdf:type skos:Concept ;
      skos:broader vml:g_9991 ;
      skos:inScheme vml:g2p ;
      skos:prefLabel "Somatic"@en .     

vml:g_0003
      rdf:type skos:Concept ;
      skos:broader vml:g_9991 ;
      skos:inScheme vml:g2p ;
      skos:prefLabel "De novo"@en .     

vml:g_0007
      rdf:type skos:Concept ;
      skos:broader vml:g_9991 ;
      skos:inScheme vml:g2p ;
      skos:prefLabel "Germline"@en .

#
# Parental origin (source)
#
vml:g_0004
      rdf:type skos:Concept ;
      skos:broader vml:g_9992 ;
      skos:inScheme vml:g2p ;
      skos:prefLabel "Maternal chromosome"@en .

vml:g_0005
      rdf:type skos:Concept ;
      skos:broader vml:g_9992 ;
      skos:inScheme vml:g2p ;
      skos:prefLabel "Paternal chromosome"@en .


vml:g_0006
      rdf:type skos:Concept ;
      skos:broader vml:g_9992 ;
      skos:inScheme vml:g2p ;
      skos:prefLabel "Either parent"@en .