OBO ID: DOID:0050574
Term Name: L-2-hydroxyglutaric aciduria Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:0050574 )
Relationships
is a type of:
OTHER L-2-hydroxyglutaric aciduria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
L2HGDH L-2-hydroxyglutaric aciduria 236792
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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