Search Ontology:
Human Disease
L-2-hydroxyglutaric aciduria
- Term ID
- DOID:0050574
- Synonyms
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- L-2-HYDROXYGLUTARIC ACIDEMIA
- Definition
- An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
- References
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- GARD:10472
- MIM:236792
- ORDO:79314
- Ontology
- Human Disease ( DOID:0050574 )
- is a type of
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Genes Involved
Zebrafish Models