congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
MONDO:0005039
reproductive system disorder
is_a
MONDO:0018479
congenital adrenal hyperplasia
is_a
CAH due to 11-beta-hydroxylase deficiency
exact
CYP11B1 deficiency
exact
adrenal hyperplasia IV
related
adrenal hyperplasia hypertensive form
related
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
exact