Pyruvate Dehydrogenase Complex Deficiency Disease
Disease ID: disease_node_8190
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| Dbxref | GARD:4620, GARD:7513, ICD10CM:E74.4, MESH:D015325, MIM:245348, MIM:245349, MIM:312170, MIM:608782, MIM:614111, NCI:C103968, ORDO:79243, SNOMEDCT_US_2023_03_01:46683007, UMLS_CUI:C0034345 |
|---|---|
| Subclassof | DOID_2978 |
| Data Source | DOID, MESH |
| Synonyms | deficiency of pyruvic dehydrogenase, pyruvate dehydrogenase complex deficiency disease, pyruvate dehydrogenase deficiency |
| Mesh Id | D015325 |
| Mesh Label | Pyruvate Dehydrogenase Complex Deficiency Disease |
| Mesh Subclassof | D028361, D038901, D020739, D015323 |
| Doid Label | pyruvate decarboxylase deficiency |
| Doid Description | A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_8190 |
| Doid Id | DOID_3649 |
| Label | Pyruvate Dehydrogenase Complex Deficiency Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Carbohydrate Metabolism, Inborn Errors(ID:disease_node_1800) (Disease)