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DO Term : cytochrome P450 oxidoreductase deficiency [DOID:0080925] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 613571,
  • OMIM:613571,
  • GARD:12664,
  • NCI:C131302
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents