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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 the ACAD9 gene on chromosome 3q21.3.
Synonyms: ACAD9 deficiency, Acyl-CoA dehydrogenase 9 deficiency, MC1DN20, mitochondrial complex 1 deficiency due to ACAD9 deficiency,
Xenbase Genes
:
acad9
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)