|
Term ID: | 8495 |
Name: | Ovotesticular Disorders of Sex Development |
Definition: | Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism. |
Alternative IDs: | |
ParentIDs: | MESH:D012734 |
TreeNumbers: | C12.706.316.343 |C13.351.875.253.343 |C16.131.939.316.343 |C19.391.119.343 |
Synonyms: | 46,XX Gonadal Dysgenesis, Complete, Sry-Positive |46,XX True Hermaphroditism, Sry-Positive |DSD, Ovotesticular |DSDs, Ovotesticular |Familial True Hermaphroditism |Familial True Hermaphroditisms |Familial XX True Hermaphroditism |Hermaphroditism, Familial True | |
Slim Mappings: | Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) |
Reference: |
MedGen: D050090
MeSH: D050090
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
|