OBO ID: DOID:0112072
Term Name: nuclear type mitochondrial complex I deficiency 20 Search Ontology:
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 ACAD9 on chromosome 3q21.3. (3)
References:
Ontology: Human Disease   (DOID:0112072)
OTHER nuclear type mitochondrial complex I deficiency 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACAD9 Mitochondrial complex I deficiency, nuclear type 20 611126
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None