46,XY sex reversal 8

Summary

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: male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase, SRXY8, TDD

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: akr1c2, akr1c4

MIM:

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

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

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 recessive disease (is_a)