OBO ID: DOID:0080359
Term Name: mitochondrial complex IV deficiency nuclear type 9 Search Ontology:
Synonyms:
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
  • MC4DN9
Definition: A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/12928484/
References:
Ontology: Human Disease   ( DOID:0080359 )
OTHER mitochondrial complex IV deficiency nuclear type 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COA5 ?Mitochondrial complex IV, deficiency, nuclear type 9 616500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None