@prefix nalt: <https://lod.nal.usda.gov/nalt/> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix dc: <http://purl.org/dc/terms/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix ns0: <https://lod.nal.usda.gov/naltv#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

nalt:278705
  skos:prefLabel "mutación de pérdida de función"@es, "loss-of-function mutation"@en ;
  a <https://lod.nal.usda.gov/naltv#Topic>, skos:Concept ;
  skos:related nalt:324466 .

nalt:324466_def
  rdf:value "Variación en el número de copias que da lugar a una dosis génica reducida como resultado de una mutación de pérdida funcional. La pérdida de heterocigosidad se asocia a fenotipos anormales o enfermedades, dado que el gen restante resulta insuficiente."@es, "A copy number variation that results in reduced gene dosage due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient."@en ;
  dc:source "Medical Subject Headings" ;
  a <https://lod.nal.usda.gov/naltv#Definition> .

nalt:309787
  skos:prefLabel "variación en el número de copias"@es, "copy number variation"@en ;
  a <https://lod.nal.usda.gov/naltv#Topic>, skos:Concept ;
  skos:related nalt:324466 .

<https://lod.nal.usda.gov/naltv#Topic>
  rdfs:label "Topic"@en ;
  a owl:Class .

nalt:324472
  skos:prefLabel "pérdida de heterocigosidad"@es, "loss of heterozygosity"@en ;
  a <https://lod.nal.usda.gov/naltv#Topic>, skos:Concept ;
  skos:narrower nalt:324466 .

<https://lod.nal.usda.gov/nalt>
  rdfs:label "NALT Full"@en ;
  a skos:ConceptScheme .

nalt:324466
  skos:broader nalt:42563, nalt:324472 ;
  skos:inScheme <https://lod.nal.usda.gov/nalt> ;
  ns0:marc001 "87685" ;
  skos:prefLabel "haploinsuficiencia"@es, "haploinsufficiency"@en ;
  skos:related nalt:278705, nalt:309787 ;
  a skos:Concept, ns0:Topic ;
  dc:created "2018-09-18"^^xsd:date ;
  skos:hiddenLabel "haploinsufficiencies"@en ;
  dc:modified "2018-11-14"^^xsd:date ;
  skos:definition nalt:324466_def .

nalt:42563
  skos:prefLabel "dosis de genes"@es, "gene dosage"@en ;
  a ns0:Topic, skos:Concept ;
  skos:narrower nalt:324466 .