congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.
MONDO:0005523
steroid inherited metabolic disorder
is_a
MONDO:0015129
chronic primary adrenal insufficiency
is_a
MONDO:0015514
hereditary endocrine growth disease
is_a
MONDO:0015898
adrenogenital syndrome
is_a
CAH
exact
adrenal hyperplasia
broad
adrenal hyperplasia, congenital
exact
adrenogenital disorder
broad
adrenogenital syndrome
broad
congenital adrenal gland hyperplasia
exact
SPBC29A10.01