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Metadata
ID DOID:0050574
Name L-2-hydroxyglutaric aciduria
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
Xrefs

GARD:10472

OMIM:236792

ORDO:79314

Subsets

DO_rare_slim

Synonyms

L-2-HYDROXYGLUTARIC ACIDEMIA [EXACT]

Parent Relationships

is_a cerebellar disease

is_a 2-hydroxyglutaric aciduria

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