DOID:0111769 - 46,XY sex reversal 6
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 MAP3K1 on chromosome 5q11.2.
Synonyms: 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related, 46,XY sex reversal, partial or complete, MAP3K1-related, SRXY6,
Xenbase Genes : map3k1
|OMIM:613762 - 46,XY SEX REVERSAL 6; SRXY6|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee