| Metadata | |
|---|---|
| ID | DOID:0111771 |
| Name | 46,XY sex reversal 4 |
| 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 but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. https://www.ncbi.nlm.nih.gov/pubmed/10780781, https://www.ncbi.nlm.nih.gov/pubmed/1956279, https://www.ncbi.nlm.nih.gov/pubmed/19417767 |
| Xrefs | |
| Synonyms |
46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion [EXACT] chromosome 9p24.3 deletion syndrome [EXACT] SRXY4 [EXACT] |
| Parent Relationships |
is_a chromosomal deletion syndrome is_a 46,XY sex reversal |
| Subclass Logical Relationships |
has material basis in some deletion and has material basis in some chromosome |