WormBase Tree Display for DO_term: DOID:0111619
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| DOID:0111619 | Name | combined D-2- and L-2-hydroxyglutaric aciduria | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | 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 | |||||
| Parent | Is_a | DOID:0050573 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 615182 | |
| Attribute_of | Gene_by_orthology | WBGene00010780 | |||
| WBGene00021345 |
