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General Information
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| Term |
3-hydroxyisobutryl-CoA hydrolase deficiency |
ID (Ontology) |
DOID:0060949 (Human Disease) |
| Definition |
An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. |
| Also Known As |
"HIBCH deficiency" ; "Methacrylic aciduria" ; "Valine metabolic defect" |
| Comment |
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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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| 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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| Genes | Human Disease Models |
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3-hydroxyisobutryl-CoA hydrolase deficiency | 1 | 1 | for disease ribbon | 3-hydroxyisobutryl-CoA hydrolase deficiency | 1 | -- | model of | 3-hydroxyisobutryl-CoA hydrolase deficiency | 1 | -- |
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Relationships