|
General Information
|
| Term |
oxoglutarate dehydrogenase deficiency |
ID (Ontology) |
DOID:0081326 (Human Disease) |
| Definition |
An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. |
| Also Known As |
"alpha-ketoglutarate dehydrogenase deficiency" ; "Oxoglutaric aciduria" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 9 | | Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes | Human Disease Models |
|---|
oxoglutarate dehydrogenase deficiency | 9 | 3 | 1 | ameliorates | oxoglutarate dehydrogenase deficiency | 2 | -- | -- | for disease ribbon | oxoglutarate dehydrogenase deficiency | -- | 2 | -- | model of | oxoglutarate dehydrogenase deficiency | 8 | 2 | -- |
|
Relationships