@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:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_head { this: np:hasAssertion dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_assertion; np:hasProvenance dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_provenance; np:hasPublicationInfo dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_publicationInfo; a np:Nanopublication . dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_assertion a np:Assertion . dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_provenance a np:Provenance . dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_publicationInfo a np:PublicationInfo . } dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_assertion { miriam-gene:6046 a ncit:C16612 . lld:C0042755 a ncit:C7057 . dgn-gda:DGN30729ee3ef295a140501a6885aca34ab sio:SIO_000628 miriam-gene:6046, lld:C0042755; a sio:SIO_001121 . } dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_provenance { dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_assertion dcterms:description "[The cardinal features of this syndrome are a consequence of P450arom deficiency: 1) the fetal masculinization in this syndrome can be ascribed to defective placental conversion of C19 steroids to estrogens, leading to exposure of the female fetus to excessive amounts of testosterone; 2) the pubertal failure, mild virilization, multicystic ovaries, and hyperstimulation of the ovaries by FSH and LH are the result of the inability of the ovary to aromatize testosterone and androstenedione to estrogens; and 3) the striking delay in bone age at 14 2/12 yr supports the notion that estrogens, in contrast to androgens, are the major sex steroid driving skeletal maturation during puberty.]. 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:8200927; 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 . } dgn-np:NP793713.RAOYP33JCbFnmNdgTmiqnUqPQ2S3HszifjiTp-WhiFpl4130_publicationInfo { this: dcterms:created "2014-10-02T12:40:07+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }