DOID:0112072 - nuclear type mitochondrial complex I deficiency 20
Disease Ontology Definition:A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3.
Synonyms: ACAD9 deficiency, Acyl-CoA dehydrogenase 9 deficiency, MC1DN20, mitochondrial complex 1 deficiency due to ACAD9 deficiency
Xenbase Genes : acad9
|OMIM:611126 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), nuclear type mitochondrial complex I deficiency (is_a)