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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
D-2-hydroxyglutaric aciduria 1
Summary
- Synonym
-
- D2HGA1
- Definition
- A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.
- Super Class
- D-2-hydroxyglutaric aciduria autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111351
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| Q9H9P8 | L-2-hydroxyglutarate dehydrogenase, mitochondrial |
