@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q> .
@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/v3.0.0/void/> .

dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_head {
  this: np:hasAssertion dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_assertion;
    np:hasProvenance dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_provenance;
    np:hasPublicationInfo dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_assertion a np:Assertion .
  
  dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_provenance a np:Provenance .
  
  dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_assertion {
  miriam-gene:6658 a ncit:C16612 .
  
  lld:C3494506 a ncit:C7057 .
  
  dgn-gda:DGN50b303913ad06d463772411706a2af1d sio:SIO_000628 miriam-gene:6658, lld:C3494506;
    a sio:SIO_001121 .
}

dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_provenance {
  dgn-np:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_assertion dcterms:description
      "[Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes.]. 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:24945424;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP708433.RAktbTNZ28UgNZoqpIcpNrloWQxVksHaUsHa2RJmQtk6Q130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:47+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}