Search Ontology:
Human Disease

cytochrome P450 oxidoreductase deficiency

Term ID
DOID:0080925
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. https://www.ncbi.nlm.nih.gov/books/NBK1419/
References
Ontology
Human Disease   ( DOID:0080925 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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