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Summary Literature (0)
DOID:0111770 - 46,XY sex reversal 9

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 the ZFPM2 gene on chromosome 8q23.1.

Synonyms: 46,XY sex reversal, ZFPM2-related, SRXY9

Xenbase Genes : zfpm2



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 dominant disease (is_a)