DOID:0111777 - 46,XY sex reversal 2
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 hemizygous duplication of NR0B1 on chromosome Xp21.2.
Synonyms: 46,XY sex reversal, DAX1-related, 46XY sex reversal 2, dosage-sensitive, DSS, SRXY2, dosage-sensitive sex reversal,
Xenbase Genes : nr0b1
|OMIM:300018 - 46,XY SEX REVERSAL 2; SRXY2|
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), X-linked disease (is_a)