46,XY sex reversal 2 Disease Ontology Browser

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Disease Ontology Browser

46,XY sex reversal 2 (DOID:0111777)
Alliance: disease page
Synonyms: 46,XY sex reversal, DAX1-related; 46XY sex reversal 2, dosage-sensitive; dosage-sensitive sex reversal; SRXY2
Alt IDs: OMIM:300018
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 hemizygous duplication of the NR0B1 gene on chromosome Xp21.2.

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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