L-2-hydroxyglutaric aciduria
Information
- Disease name
- L-2-hydroxyglutaric aciduria
- Disease ID
- DOID:0050574
- Description
- "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)." [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:0050573
- Cross Reference ID (Disease Ontology)
- GARD:10472
- Cross Reference ID (Disease Ontology)
- MIM:236792
- Cross Reference ID (Disease Ontology)
- ORDO:79314
- Exact Synonym (Disease Ontology)
- L-2-HYDROXYGLUTARIC ACIDEMIA
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0040144
- OrphaNumber from OrphaNet (Orphanet)
- 79314