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nuclear type mitochondrial complex I deficiency 20 (DOID:0112072)
Alliance: disease page
Synonyms: 'ACAD9 deficiency'; 'Acyl-CoA dehydrogenase 9 deficiency'; 'MC1DN20'; 'mitochondrial complex 1 deficiency due to ACAD9 deficiency'
Alt IDs: OMIM:611126, MESH:C567006, ORDO:99901, UMLS_CUI:C1970173
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.


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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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory