loading...| Preferred Name | androgen insensitivity syndrome | |
| Synonyms |
testicular feminization syndrome (formerly) androgen receptor deficiency dihydrotestosterone receptor deficiency Feminisation - testicular AR deficiency DHTR deficiency AIS Goldberg - Maxwell syndrome androgen-insensitivity syndrome androgen insensitivity, X-linked recessive androgen resistance syndrome Morris syndrome testicular feminization Goldberg-Maxwell syndrome testicular feminization syndrome androgen insensitivity syndrome |
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| Definitions |
Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019154 |
|
| closeMatch | ||
| database_cross_reference |
SCTID:12313004 UMLS:C0039585 NANDO:2200391 Orphanet:754 MESH:D013734 NCIT:C27226 OMIM:300068 MEDGEN:21102 MedDRA:10056292 ICD9:259.51 DOID:4674 GARD:5803 ICD9:259.5 ICD9:259.8 |
|
| definition |
Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
|
| exactMatch |
http://identifiers.org/medgen/21102 http://linkedlifedata.com/resource/umls/id/C0039585 http://purl.obolibrary.org/obo/NCIT_C27226 http://identifiers.org/snomedct/12313004 http://identifiers.org/mesh/D013734 http://purl.obolibrary.org/obo/DOID_4674 |
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| has_broad_synonym |
AIS |
|
| has_exact_synonym |
Goldberg - Maxwell syndrome androgen-insensitivity syndrome androgen insensitivity, X-linked recessive androgen resistance syndrome Morris syndrome testicular feminization Goldberg-Maxwell syndrome testicular feminization syndrome androgen insensitivity syndrome |
|
| has_related_synonym |
testicular feminization syndrome (formerly) androgen receptor deficiency dihydrotestosterone receptor deficiency Feminisation - testicular AR deficiency DHTR deficiency |
|
| IAO_0000233 | ||
| id |
MONDO:0019154 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
androgen insensitivity syndrome |
|
| notation |
MONDO:0019154 |
|
| preferred label |
androgen insensitivity syndrome |
|
| prefLabel |
androgen insensitivity syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome |
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| subClassOf |