46,XY sex reversal 3

Summary

DOID:0111772 - 46,XY sex reversal 3

Disease Ontology Definition:A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.

Synonyms: 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure, 46,XY sex reversal, partial or complete, NR5A1-related, SRXY3, disorder of sex development, 46,XY, NR5A1-related, sex reversal, XY, with or without adrenal failure,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nr5a1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): 46,XY sex reversal (is_a), autosomal dominant disease (is_a)