Term Name: cytochrome P450 oxidoreductase deficiency
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 )

Relationships
is a type of: autosomal recessive disease steroid inherited metabolic disorder