FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cytochrome P450 oxidoreductase deficiency ID (Ontology) DOID:0080925 (Human Disease)
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.
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 cytochrome P450 oxidoreductase deficiency       1
 for disease ribbon | cytochrome P450 oxidoreductase deficiency       1
 model of | cytochrome P450 oxidoreductase deficiency       1
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autosomal genetic disease
 |__autosomal recessive disease___________
lipid metabolism disorder                 |
 |__steroid inherited metabolic disorder__|
                                          cytochrome P450 oxidoreductase deficiency  1 rec.
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Is a autosomal recessive disease
steroid inherited metabolic disorder
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GARD:12664
MIM:613571
NCI:C131302