@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_head {
  this: np:hasAssertion dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_assertion;
    np:hasProvenance dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_provenance;
    np:hasPublicationInfo dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_assertion a np:Assertion .
  
  dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_provenance a np:Provenance .
  
  dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_assertion {
  miriam-gene:1741 a ncit:C16612 .
  
  lld:C1136249 a ncit:C7057 .
  
  dgn-gda:DGNbfeeb87b38859b0ab71063b37636e0b5 sio:SIO_000628 miriam-gene:1741, lld:C1136249;
    a sio:SIO_001121 .
}

dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_provenance {
  dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_assertion dcterms:description
      "[Golabi and Rosen (1984) have reported on a new X-linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre- and postnatal overgrowth, characteristic coarse facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:6538756;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP1306325.RAocONppdQQT1quphxH0nHiAxfDg2ESi412uAxSJkLCFs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:38+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}