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

Echinobase Genes :



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)