Methylmalonic Aciduria And Homocystinuria Type Cblc
Disease ID: disease_node_19192
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| Dbxref | MIM:277400 |
|---|---|
| Subclassof | DOID_14749, DOID_0080578 |
| Data Source | DOID |
| Synonyms | Cobalamin C deficiency, MAHCC |
| Doid Label | methylmalonic aciduria and homocystinuria type cblC |
| Doid Description | A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_19192 |
| Doid Id | DOID_0050715 |
| Label | Methylmalonic Aciduria And Homocystinuria Type Cblc |
- Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease)