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General Information
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| Term |
combined D-2- and L-2-hydroxyglutaric aciduria |
ID (Ontology) |
DOID:0111619 (Human Disease) |
| Definition |
A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. |
| Also Known As |
"combined D,L-2-hydroxyglutaric aciduria" ; "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" ; "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 4 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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combined D-2- and L-2-hydroxyglutaric aciduria | 4 | 3 | 1 | ameliorates | combined D-2- and L-2-hydroxyglutaric aciduria | 2 | -- | -- | for disease ribbon | combined D-2- and L-2-hydroxyglutaric aciduria | -- | 1 | -- | model of | combined D-2- and L-2-hydroxyglutaric aciduria | 2 | 1 | -- |
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Relationships