has characteristic has characteristic has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of CYP21A2 steroid 21-monooxygenase activity reproductive system disorder classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/6753 https://www.malacards.org/card/adrenal_hyperplasia_congenital_due_to_21_hydroxylase_deficiency https://www.malacards.org/card/classic_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency UMLS:C4273964 CYP21 deficiency NANDO:2200374 SCTID:124221007 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency MEDGEN:903755 NCIT:C131087 congenital adrenal hyperplasia due to 21-hydroxylase deficiency classic 21-OHD CAH Orphanet:90794 OMIM:201910 NANDO:1200399 MONDO:0008728 21 hydroxylase deficiency classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency GARD:0012665 21-OHD SCTID:717261006 The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. MESH:C535979 congenital adrenal hyperplasia congenital