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Summary Literature (0)
DOID:0111774 - 46,XY sex reversal 7

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 homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.

Synonyms: 46,XY gonadal dysgenesis, partial or complete, DHH-related, 46,XY sex reversal, partial or complete, DHH-related, GDXYM, gonadal dysgenesis, XY, male limited, SRXY7

Xenbase Genes : dhh



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 recessive disease (is_a)