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46,XY sex reversal 2
Summary
- Synonym
-
- 46,XY sex reversal, DAX1-related
- 46XY sex reversal 2, dosage-sensitive
- SRXY2
- dosage-sensitive sex reversal
- 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.
- Super Class
- 46,XY sex reversal X-linked monogenic disease
External Links
- Disease Ontology
- DOID:0111777
- Mondo Disease Ontology
- OMIM
- GARD
