has characteristic has characteristic has material basis in germline mutation in CYP11B1 reproductive system disorder congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6753 https://www.malacards.org/card/adrenal_hyperplasia_congenital_due_to_steroid_11_beta_hydroxylase_deficiency https://www.malacards.org/card/congenital_adrenal_hyperplasia_due_to_11_beta_hydroxylase_deficiency GARD:0005658 MedDRA:10000002 CAH due to 11-beta-hydroxylase deficiency adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency MONDO:0008729 ICD9:277.6 CYP11B1 deficiency MESH:C535978 adrenal hyperplasia hypertensive form adrenal hyperplasia IV UMLS:C0268292 icd11.foundation:791376680 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. SCTID:124214007 OMIM:202010 NANDO:1200400 Orphanet:90795 MEDGEN:82783 NANDO:2200372 NCIT:C131085 congenital adrenal hyperplasia congenital