| Metadata | |
|---|---|
| ID | DOID:0111770 |
| Name | 46,XY sex reversal 9 |
| 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 ZFPM2 gene on chromosome 8q23.1. https://www.ncbi.nlm.nih.gov/pubmed/24549039, https://www.ncbi.nlm.nih.gov/pubmed/1956279 |
| Xrefs | |
| Synonyms |
46,XY sex reversal, ZFPM2-related [EXACT] SRXY9 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |