Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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.

ID

http://www.orpha.net/ORDO/Orphanet_99429

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

has_age_of_onset

All ages

has_inheritance

X-linked recessive

hasDbXref

ICD-10:E34.5

OMIM:300068

ICD-11:LD2A.4

UMLS:C0936016

label

Complete androgen insensitivity syndrome

notation

ORPHA:99429

part_of

http://www.orpha.net/ORDO/Orphanet_754

prefixIRI

ORDO:Orphanet_99429

prefLabel

Complete androgen insensitivity syndrome

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

treeView

http://www.orpha.net/ORDO/Orphanet_754

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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