Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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,

Xenbase Genes : akr1c2, akr1c4


OMIM:
OMIM:614279 - 46,XY SEX REVERSAL 8; SRXY8

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): 46,XY sex reversal (is_a), autosomal recessive disease (is_a)