loading...| Preferred Name | Androgen-Insensitivity Syndrome [Disease/Finding] | |
| Synonyms |
Androgen Insensitivity Syndrome Androgen Resistance Syndrome Male Pseudohermaphroditism Due to Androgen Insensitivity Androgen-Insensitivity Syndrome |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002913 |
|
| altLabel |
Androgen Insensitivity Syndrome Androgen Resistance Syndrome Male Pseudohermaphroditism Due to Androgen Insensitivity Androgen-Insensitivity Syndrome |
|
| cui |
C0039585 |
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| MESH DEFINITION |
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. |
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| MESH DUI |
D013734 |
|
| MeSH name |
Androgen-Insensitivity Syndrome |
|
| MESH UI |
M0021189 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002913 |
|
| NUI |
N0000002913 |
|
| prefLabel |
Androgen-Insensitivity Syndrome [Disease/Finding] |
|
| SNOMED CID |
12313004 |
|
| tui |
T047 |
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| subClassOf |