Oxoglutarate Dehydrogenase Deficiency
Disease ID: disease_node_20524
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| Dbxref | GARD:617, MIM:203740, ORDO:31 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | Oxoglutaric aciduria, alpha-ketoglutarate dehydrogenase deficiency |
| Doid Label | oxoglutarate dehydrogenase deficiency |
| Doid Description | An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. |
| Existence Starts During | HP_0003593 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20524 |
| Doid Id | DOID_0081326 |
| Label | Oxoglutarate Dehydrogenase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)