Mitochondrial Pyruvate Carrier Deficiency
Disease ID: disease_node_16811
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| Dbxref | MIM:614741, ORDO:447784 |
|---|---|
| Subclassof | DOID_700, DOID_0050737 |
| Data Source | DOID |
| Doid Label | mitochondrial pyruvate carrier deficiency |
| Doid Description | A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16811 |
| Doid Id | DOID_0080363 |
| Label | Mitochondrial Pyruvate Carrier Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Diseases(ID:disease_node_10985) (Disease)