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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
nuclear type mitochondrial complex I deficiency 20
Summary
- Synonym
-
- ACAD9 deficiency
- Acyl-CoA dehydrogenase 9 deficiency
- MC1DN20
- mitochondrial complex 1 deficiency due to ACAD9 deficiency
- 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.
- Super Class
- autosomal recessive disease nuclear type mitochondrial complex I deficiency
External Links
- Disease Ontology
- DOID:0112072
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
