loading...| Preferred Name | partial androgen insensitivity syndrome | |
| Synonyms |
Reifenstein syndrome |
|
| Definitions |
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080776 |
|
| Obsolete |
true |
|
| alternative label |
Reifenstein syndrome |
|
| database_cross_reference |
OMIM:312300 GARD:5692 ORDO:90797 |
|
| definition |
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. |
|
| has exact synonym |
Reifenstein syndrome |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080776 |
|
| in_subset | ||
| label |
partial androgen insensitivity syndrome |
|
| notation |
DOID:0080776 |
|
| note |
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. |
|
| owl:deprecated |
true |
|
| preferred label |
partial androgen insensitivity syndrome |
|
| prefLabel |
partial androgen insensitivity syndrome |
|
| subClassOf |