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Summary Literature (0)
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 the MAP3K1 gene 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



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)