Search Ontology:
Human Disease
46,XY sex reversal 3
- Term ID
- DOID:0111772
- Synonyms
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- 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
- 46,XY sex reversal, partial or complete, NR5A1-related
- disorder of sex development, 46,XY, NR5A1-related
- sex reversal, XY, with or without adrenal failure
- SRXY3
- 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 heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (2)
- References
- Ontology
- Human Disease ( DOID:0111772 )
- is a type of
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