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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
D-2-hydroxyglutaric aciduria
Summary
- Definition
- An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
- Super Class
- 2-hydroxyglutaric aciduria
External Links
- Disease Ontology
- DOID:0050575
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| Q9H9P8 | L-2-hydroxyglutarate dehydrogenase, mitochondrial |
