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cytochrome P450 oxidoreductase deficiency
Summary
- 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.
- Super Class
- autosomal recessive disease steroid inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0080925
- Mondo Disease Ontology
- NCI Thesaurus
- OMIM
- GARD
