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androgen insensitivity syndrome

Disease Summary
Associated Targets (2)
Tclin

2


GARD Rare
Mondo Description 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).
Uniprot Description An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.
Disease Ontology Description A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
Mondo Term and Equivalent IDs
MONDO:0019154:  androgen insensitivity syndrome
COHD:440359: 
GARD:0005803: 
ICD9:259.51: 
MESH:D013734: 
NCIT:C27226: 
Orphanet:754: 
SCTID:12313004: 
UMLS:C0039585: