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Summary Literature (0)
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 : 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)