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DOID:0070540 - mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Disease Ontology 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.
Synonyms: ECHS1D,
Xenbase Genes
:
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a),
autosomal recessive disease (is_a),
lipid metabolism disorder (is_a),
mitochondrial metabolism disease (is_a)