androgen insensitivity syndrome
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).
MONDO:0003847
hereditary disease
is_a
MONDO:0020040
46 XY differences of sex development
is_a
AIS
broad
Goldberg-Maxwell syndrome
exact
Morris syndrome
exact
androgen insensitivity syndrome
exact
androgen insensitivity, X-linked recessive
exact
androgen resistance syndrome
exact
testicular feminization syndrome
exact
testicular feminization syndrome (formerly)
related