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DOID:0111773 - 46,XY sex reversal 8
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 homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.
Synonyms: SRXY8, TDD, male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase,
Xenbase Genes : akr1c2, akr1c4
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee