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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
D-2-hydroxyglutaric aciduria 2
Summary
- Synonym
-
- D2HGA2
- Definition
- A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.
- Super Class
- D-2-hydroxyglutaric aciduria autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111352
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0001250 | Seizure |
| HP:0012321 | D-2-hydroxyglutaric aciduria |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001638 | Cardiomyopathy |
| HP:0001252 | Hypotonia |
