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L-2-hydroxyglutaric aciduria
Summary
- Synonym
-
- 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).
- Super Class
- 2-hydroxyglutaric aciduria cerebellar disease
External Links
- Disease Ontology
- DOID:0050574
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H9P8 | L-2-hydroxyglutarate dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002352 | Leukoencephalopathy |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0000486 | Strabismus |
| HP:0002062 | Abnormal pyramidal tract morphology |
| HP:0007371 | Corpus callosum atrophy |
| HP:0001272 | Cerebellar atrophy |
| HP:0000648 | Optic atrophy |
| HP:0002171 | Gliosis |
