@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_head { this: np:hasAssertion dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion; np:hasProvenance dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_provenance; np:hasPublicationInfo dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_publicationInfo; a np:Nanopublication . dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion a np:Assertion . dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_provenance a np:Provenance . dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_publicationInfo a np:PublicationInfo . } dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion { miriam-gene:3126 a ncit:C16612 . lld:C0238395 a ncit:C7057 . dgn-gda:DGN0a4296b9cb80225851474d0603e48e10 sio:SIO_000628 miriam-gene:3126, lld:C0238395; a sio:SIO_001121 . } dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_provenance { dgn-np:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion dcterms:description "[Seventeen alpha-hydroxylase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia not linked to human leukocyte antigen and characterized by the coexistence of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as male pseudohermaphroditism and sexual infantilism in female, due to impaired production of sex hormones.]. 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:11836339; 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:NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_publicationInfo { this: dcterms:created "2016-05-13T12:44:21+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }