Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 9

Term ID
DOID:0080359
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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