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Metadata
ID DOID:0080925
Name cytochrome P450 oxidoreductase deficiency
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.
https://www.ncbi.nlm.nih.gov/books/NBK1419/
Xrefs

GARD:12664

MIM:613571

NCI:C131302

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DO_rare_slim

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Parent Relationships

is_a steroid inherited metabolic disorder

is_a autosomal recessive disease

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