D-2-hydroxyglutaric aciduria
Information
- Disease name
- D-2-hydroxyglutaric aciduria
- Disease ID
- DOID:0050575
- Description
- "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." [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050573
- Cross Reference ID (Disease Ontology)
- GARD:5661
- Cross Reference ID (Disease Ontology)
- MIM:PS600721
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0012321
- OMIM Phenotype Series Number (OMIM)
- PS600721
- OrphaNumber from OrphaNet (Orphanet)
- 79315
- MedGen concept unique identifier (MedGen Concept name)
- C1833429
- MedGen unique identifier (MedGen Concept name)
- 322192