46,XY sex reversal 9
Information
- Disease name
- 46,XY sex reversal 9
- Disease ID
- DOID:0111770
- 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 ZFPM2 gene on chromosome 8q23.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/24549039]
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:616067
- Exact Synonym (Disease Ontology)
- 46,XY sex reversal, ZFPM2-related
- Exact Synonym (Disease Ontology)
- SRXY9