| Metadata | |
|---|---|
| ID | DOID:0111775 |
| Name | 46,XY sex reversal 10 |
| 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 deletion of a region upstream of the SOX9 gene on chromosome 17q24. https://www.ncbi.nlm.nih.gov/pubmed/22051515, https://www.ncbi.nlm.nih.gov/pubmed/1956279 |
| Xrefs | |
| Synonyms |
chromosome 17q24 deletion syndrome [EXACT] SRXY10 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a chromosomal deletion syndrome is_a 46,XY sex reversal |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some deletion and has material basis in some chromosome |