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Summary Literature (0)
DOID:0111773 - 46,XY sex reversal 8


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 AKR1C2 on chromosome 10p15.1.

Synonyms: SRXY8, TDD, male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase

Referenced OMIM:
OMIM:614279 - 46,XY SEX REVERSAL 8; SRXY8

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : akr1c2, akr1c4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): 46,XY sex reversal (is_a), autosomal recessive disease (is_a)


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