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Disease Ontology Browser
46,XY sex reversal 8 (DOID:0111773)
Alliance: disease page
Synonyms: male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; SRXY8; TDD
Alt IDs: OMIM:614279, ORDO:443087
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory