@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_head {
  this: np:hasAssertion dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_assertion;
    np:hasProvenance dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_provenance;
    np:hasPublicationInfo dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_assertion a np:Assertion .
  
  dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_provenance a np:Provenance .
  
  dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_assertion {
  miriam-gene:50814 a ncit:C16612 .
  
  lld:C0265267 a ncit:C7057 .
  
  dgn-gda:DGN03dc2546ceb32909d713e52bc37d896a sio:SIO_000628 miriam-gene:50814, lld:C0265267;
    a sio:SIO_001122 .
}

dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_provenance {
  dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_assertion dcterms:description
      "[We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 (NAD(P)H steroid dehydrogenase-like protein) encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:10710235;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP4618.RAswGz0xe26FJnExUAUVFVTdGt50PWYHd01sUWCInHrds130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:00+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}