has characteristic has characteristic has material basis in germline mutation in POR reproductive system disorder congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/6753 https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency https://www.malacards.org/card/cytochrome_p450_oxidoreductase_deficiency https://www.malacards.org/card/disordered_steroidogenesis_due_to_cytochrome_p450_oxidoreductase_deficiency NCIT:C174439 Orphanet:95699 DOID:0080925 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. disordered steroidogenesis due to cytochrome P450 oxidoreductase icd11.foundation:497412536 GARD:0012664 NANDO:1200402 NANDO:2200375 OMIM:613571 POR deficiency SCTID:715733000 UMLS:C1860042 congenital adrenal hyperplasia due to cytochrome POR deficiency MONDO:0013310 MEDGEN:348008 PORD congenital adrenal hyperplasia congenital