http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#head http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#assertion http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#provenance http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#assertion http://rdf.disgenet.org/resource/gda/DGNdfc6ad2844fe44798b58c8c9332f15e0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/367 http://rdf.disgenet.org/resource/gda/DGNdfc6ad2844fe44798b58c8c9332f15e0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268301 http://rdf.disgenet.org/resource/gda/DGNdfc6ad2844fe44798b58c8c9332f15e0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#provenance http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#assertion http://purl.org/dc/terms/description [In 12 patients the cause was clarified.Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antim�llerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9329414 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/dc/terms/created 2017-10-17T13:10:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0