loading...| Preferred Name |
46,XY sex reversal |
| Synonyms |
Pure gonadal dysgenesis 46,XY |
| Definitions |
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14448 |
| comment |
The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
| database_cross_reference |
UMLS_CUI:C0018054 MESH:D006061 OMIM:PS400044 OMIM:607080 NCI:C120198 |
| definition |
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. |
| has exact synonym |
Pure gonadal dysgenesis 46,XY 46 XY gonadal dysgenesis Swyer syndrome |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14448 |
| in_subset | |
| label |
46,XY sex reversal |
| notation |
DOID:14448 |
| prefLabel |
46,XY sex reversal |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||