| Metadata | |
|---|---|
| ID | DOID:0111772 |
| Name | 46,XY sex reversal 3 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10369247, https://www.ncbi.nlm.nih.gov/pubmed/1956279 |
| Xrefs | |
| Synonyms |
46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure [EXACT] 46,XY sex reversal, partial or complete, NR5A1-related [EXACT] disorder of sex development, 46,XY, NR5A1-related [EXACT] sex reversal, XY, with or without adrenal failure [EXACT] SRXY3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |