Dimethylglycine Dehydrogenase Deficiency
Disease ID: disease_node_20523
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| Dbxref | MIM:605850, ORDO:243343 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | DMG dehydrogenase deficiency |
| Doid Label | dimethylglycine dehydrogenase deficiency |
| Doid Description | An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20523 |
| Doid Id | DOID_0081446 |
| Label | Dimethylglycine 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)