OBO ID: DOID:0080925
Term Name: cytochrome P450 oxidoreductase deficiency Search Ontology:
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)
OTHER cytochrome P450 oxidoreductase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POR Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None