OBO ID: DOID:0080925 |
Term Name: | cytochrome P450 oxidoreductase deficiency | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0080925 ) |
OTHER cytochrome P450 oxidoreductase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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