loading...| Preferred Name |
46,XY sex reversal |
|
| Synonyms |
Swyer syndrome 46 XY gonadal dysgenesis 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14448 |
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| 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]. |
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| database_cross_reference |
MESH:D006061 UMLS_CUI:C0018054 NCI:C120198 MIM:PS400044 MIM:607080 |
|
| 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 |
Swyer syndrome 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14448 |
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| in_subset | ||
| label |
46,XY sex reversal |
|
| notation |
DOID:14448 |
|
| prefLabel |
46,XY sex reversal |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_14448 | CLO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_14448 | DTO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_14448 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_14448 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_14448 | MIDO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_14448 | FNS-H | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_14448 | DDSS | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_14448 | DDSS | LOOM | |
| http://purl.obolibrary.org/obo/DOID_14448 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_14448 | NIFSTD | LOOM | |
| http://purl.obolibrary.org/obo/DOID_14448 | MIDO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_14448 | FNS-H | LOOM |