Maple Syrup Urine Disease
Disease ID: disease_node_4997
Connections displayed (default: 10).
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| Dbxref | GARD:3228, ICD10CM:E71.0, MESH:D008375, MIM:246900, MIM:248600, MIM:615135, NCI:C34806, ORDO:511, SNOMEDCT_US_2023_03_01:27718001, UMLS_CUI:C0024776 |
|---|---|
| Subclassof | DOID_0060159 |
| Data Source | DOID, MESH |
| Synonyms | Ketoacidaemia, branched chain ketoaciduria, dihydrolipoamide dehydrogenase deficiency |
| Mesh Id | D008375 |
| Mesh Label | Maple Syrup Urine Disease |
| Mesh Subclassof | D020739, D000592 |
| Doid Label | maple syrup urine disease |
| Doid Description | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0019145 |
| Disease Node Id | disease_node_4997 |
| Doid Id | DOID_9269 |
| Label | Maple Syrup Urine Disease |
- Outgoing r'ship
HAS_SYMPTOMto/from Vomiting(ID:disease_node_7914;disease_node_20962) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Organic Acidemia(ID:disease_node_19193) (Disease)