Cytochrome P450 Oxidoreductase Deficiency
Disease ID: disease_node_16835
Connections displayed (default: 10).
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| Dbxref | GARD:12664, MIM:613571, NCI:C131302 |
|---|---|
| Subclassof | DOID_0050737, DOID_1701 |
| Data Source | DOID |
| Doid Label | cytochrome P450 oxidoreductase deficiency |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16835 |
| Doid Id | DOID_0080925 |
| Label | Cytochrome P450 Oxidoreductase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Steroid Metabolism, Inborn Errors(ID:disease_node_11191) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)