Search Ontology:
Human Disease

nuclear type mitochondrial complex I deficiency 20

Term ID
DOID:0112072
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0112072 )
Relationships
is a type of
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Genes Involved
Zebrafish Models