| Metadata | |
|---|---|
| ID | DOID:0050573 |
| Name | 2-hydroxyglutaric aciduria |
| Definition | An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria, http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |