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Summary Literature (0)
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 the NR0B1 gene on chromosome Xp21.2.

Synonyms: 46XY sex reversal 2, dosage-sensitive, 46,XY sex reversal, DAX1-related, dosage-sensitive sex reversal, DSS, SRXY2

Xenbase Genes : nr0b1


MIM:
MIM:300018 - 46,XY SEX REVERSAL 2; SRXY2

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), X-linked monogenic disease (is_a)