cytochrome P450 oxidoreductase deficiency (DOID:0080925)
Alliance: disease page
Alt IDs: OMIM:613571, NCI:C131302
Definition: A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.