http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_head http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_provenance http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://identifiers.org/ncbigene/3126 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0238395 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN0a4296b9cb80225851474d0603e48e10 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3126 http://rdf.disgenet.org/resource/gda/DGN0a4296b9cb80225851474d0603e48e10 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238395 http://rdf.disgenet.org/resource/gda/DGN0a4296b9cb80225851474d0603e48e10 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_provenance http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11836339 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/dc/terms/created 2016-05-13T12:44:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP344493.RAE-fL6V6kea7-Kc85TdIBgQix70FebGdcWNguWpgbFuw http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0