Combined D-2- And L-2-Hydroxyglutaric Aciduria
Disease ID: disease_node_16044
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| Dbxref | MIM:615182, ORDO:356978, SNOMEDCT_US_2023_03_01:713401006, UMLS_CUI:C5574940 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050573 |
| Data Source | DOID |
| Synonyms | D,L-2-HGA, D,L-2-hydroxyglutaric acidemia, D,L-2-hydroxyglutaric aciduria, combined D,L-2-hydroxyglutaric aciduria, combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia, combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria |
| Doid Label | combined D-2- and L-2-hydroxyglutaric aciduria |
| Doid Description | A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16044 |
| Doid Id | DOID_0111619 |
| Label | Combined D-2- And L-2-Hydroxyglutaric Aciduria |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)