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 AKR1C2 on chromosome 10p15.1.
Synonyms: SRXY8, TDD, male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
|OMIM:614279 - 46,XY SEX REVERSAL 8; SRXY8|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : akr1c2, akr1c4
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD