Term Name: | cytochrome P450 oxidoreductase deficiency |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080925] ( DOID:0080925 ) |