Search Ontology:
Human Disease
46,XY sex reversal 2
- Term ID
- DOID:0111777
- Synonyms
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- 46,XY sex reversal, DAX1-related
- 46XY sex reversal 2, dosage-sensitive
- dosage-sensitive sex reversal
- SRXY2
- 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. (3)
- References
-
- GARD:9159
- MIM:300018
- Ontology
- Human Disease ( DOID:0111777 )
- is a type of
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Genes Involved
Zebrafish Models