46,XY sex reversal 3
Information
- Disease name
- 46,XY sex reversal 3
- Disease ID
- DOID:0111772
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369247, url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:14448
- Cross Reference ID (Disease Ontology)
- MIM:612965
- Exact Synonym (Disease Ontology)
- 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
- Exact Synonym (Disease Ontology)
- 46,XY sex reversal, partial or complete, NR5A1-related
- Exact Synonym (Disease Ontology)
- disorder of sex development, 46,XY, NR5A1-related
- Exact Synonym (Disease Ontology)
- sex reversal, XY, with or without adrenal failure
- Exact Synonym (Disease Ontology)
- SRXY3