Hmg-Coa Synthase 2 Deficiency
Disease ID: disease_node_20538
Connections displayed (default: 10).
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| Dbxref | GARD:2712, MIM:605911, ORDO:35701 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency |
| Doid Label | HMG-CoA synthase 2 deficiency |
| Doid Description | An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20538 |
| Doid Id | DOID_0081168 |
| Label | Hmg-Coa Synthase 2 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)