2-hydroxyglutaric aciduria
Information
- Disease name
- 2-hydroxyglutaric aciduria
- Disease ID
- DOID:0050573
- Description
- "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." [url:http\://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria, url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:9252
- Cross Reference ID (Disease Ontology)
- GARD:10761
- Cross Reference ID (Disease Ontology)
- MESH:C535306
- OrphaNumber from OrphaNet (Orphanet)
- 19