Preferred Name | Complete androgen insensitivity syndrome | |
Synonyms |
CAIS Complete androgen resistance syndrome |
|
Definitions |
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. |
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ID |
http://www.orpha.net/ORDO/Orphanet_99429 |
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alternative_term |
CAIS Complete androgen resistance syndrome |
|
definition |
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99429 |
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has_age_of_onset |
All ages |
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has_inheritance |
X-linked recessive |
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hasDbXref |
ICD-10:E34.5 OMIM:300068 ICD-11:LD2A.4 UMLS:C0936016 |
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label |
Complete androgen insensitivity syndrome |
|
notation |
ORPHA:99429 |
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part_of | ||
prefixIRI |
ORDO:Orphanet_99429 |
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prefLabel |
Complete androgen insensitivity syndrome |
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present_in |
Europe AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 0.83 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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treeView | ||
subClassOf |