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| Term | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | ID (Ontology) | DOID:0070540 (Human Disease) | |||||||||||||||||||||||
| Definition | A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. | |||||||||||||||||||||||||
| Also Known As | "ECHS1D" | |||||||||||||||||||||||||
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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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autosomal genetic disease |__autosomal recessive disease_______ inherited metabolic disorder | |__lipid metabolism disorder_________| |__mitochondrial metabolism disease__| |__amino acid metabolic disorder_____| mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec. |
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autosomal recessive disease lipid metabolism disorder mitochondrial metabolism disease amino acid metabolic disorder |
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External Crossreferences & Linkouts
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GARD:13019 MIM:616277 NCI:C174218 ORDO:653880 UMLS_CUI:C4225391 |
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