Search Ontology:
Human Disease
nuclear type mitochondrial complex I deficiency 20
- Term ID
- DOID:0112072
- Synonyms
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- 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. (3)
- References
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- MESH:C567006
- MIM:611126
- ORDO:99901
- SNOMEDCT_US_2023_03_01:725046003
- UMLS_CUI:C1970173
- Ontology
- Human Disease ( DOID:0112072 )
- is a type of
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Genes Involved
Zebrafish Models