has characteristic has characteristic has material basis in germline mutation in CYP17A1 reproductive system disorder congenital adrenal hyperplasia due to 17-alpha-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_17_alpha_hydroxylase_deficiency MONDO:0008730 icd11.foundation:587903316 combined 17-hydroxylase/17,20-lyase deficiency congenital adrenal hyperplasia type 5 GARD:0001469 NANDO:1200401 ICD9:277.6 MEDGEN:82782 CAH due to 17-alpha-hydroxylase deficiency NANDO:2200373 Orphanet:90793 OMIM:202110 A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency 17-alpha-hydroxylase/17,20-lyase deficiency SCTID:124220008 UMLS:C0268285 congenital adrenal hyperplasia inherited primary ovarian failure congenital