loading...| Preferred Name | androgen insensitivity syndrome | |
| Synonyms |
Feminisation - testicular AR deficiency DHTR deficiency dihydrotestosterone receptor deficiency androgen receptor deficiency testicular feminization syndrome (formerly) AIS androgen insensitivity, X-linked recessive Goldberg-Maxwell syndrome Goldberg - Maxwell syndrome Morris syndrome androgen insensitivity syndrome androgen-insensitivity syndrome testicular feminization androgen resistance syndrome testicular feminization 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). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019154 |
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| altLabel |
Feminisation - testicular AR deficiency DHTR deficiency dihydrotestosterone receptor deficiency androgen receptor deficiency testicular feminization syndrome (formerly) AIS androgen insensitivity, X-linked recessive Goldberg-Maxwell syndrome Goldberg - Maxwell syndrome Morris syndrome androgen insensitivity syndrome androgen-insensitivity syndrome testicular feminization androgen resistance syndrome testicular feminization syndrome |
|
| 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). |
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| has characteristic | ||
| has_broad_synonym |
AIS |
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| has_exact_synonym |
androgen insensitivity, X-linked recessive Goldberg-Maxwell syndrome Goldberg - Maxwell syndrome Morris syndrome androgen insensitivity syndrome androgen-insensitivity syndrome testicular feminization androgen resistance syndrome testicular feminization syndrome |
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| has_related_synonym |
Feminisation - testicular AR deficiency DHTR deficiency dihydrotestosterone receptor deficiency androgen receptor deficiency testicular feminization syndrome (formerly) |
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| IAO_0000233 | ||
| label |
androgen insensitivity syndrome |
|
| prefixIRI |
MONDO:0019154 |
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| prefLabel |
androgen insensitivity syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome |
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| textual 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). |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015327 |