FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term L-2-hydroxyglutaric aciduria ID (Ontology) DOID:0050574 (Human Disease)
Definition An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
Also Known As "L-2-HYDROXYGLUTARIC ACIDEMIA"
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 Genes
 L-2-hydroxyglutaric aciduria       1
 for disease ribbon | L-2-hydroxyglutaric aciduria       1
 model of | L-2-hydroxyglutaric aciduria       1
Spanning Tree (Parents/Children)
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amino acid metabolic disorder
 |__2-hydroxyglutaric aciduria__
brain disease                   |
 |__cerebellar disease__________|
                                L-2-hydroxyglutaric aciduria  1 rec.
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Is a 2-hydroxyglutaric aciduria
cerebellar disease
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Synonyms
  • "L-2-HYDROXYGLUTARIC ACIDEMIA" EXACT
Secondary IDs
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GARD:10472
MIM:236792
ORDO:79314