dgn-np:NP510974.RAcqt1PkEhSSewmLeHTDVviVsl9kphy5UsbeZvMHGJ3KM130_provenance {
  dgn-np:NP510974.RAcqt1PkEhSSewmLeHTDVviVsl9kphy5UsbeZvMHGJ3KM130_assertion dcterms:description "[We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip `dysplasia,` equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome.]. 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:9415479 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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 .
}