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Disease Ontology Browser
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (DOID:0070540)
Alliance: disease page
Synonyms: ECHS1D
Alt IDs: OMIM:616277, NCI:C174218, ORDO:653880, UMLS_CUI:C4225391
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory