About   Help   FAQ
Disease Ontology Browser
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 the ACAD9 gene on chromosome 3q21.3.

Disease References using Mouse Models (1)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory