loading...| Preferred Name | Partial androgen insensitivity syndrome | |
| Synonyms |
PAIS Partial androgen resistance syndrome |
|
| Definitions |
A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_90797 |
|
| alternative_term |
PAIS Partial androgen resistance syndrome |
|
| definition |
A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90797 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
X-linked recessive |
|
| hasDbXref |
ICD-10:E34.5 UMLS:C0268301 ICD-11:LD2A.4 OMIM:312300 |
|
| label |
Partial androgen insensitivity syndrome |
|
| notation |
ORPHA:90797 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_90797 |
|
| prefLabel |
Partial androgen insensitivity syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |