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 NR5A1 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 : nr5a1
|OMIM:612965 - 46,XY SEX REVERSAL 3; SRXY3|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee