Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 13

Term ID
DOID:0080360
Synonyms
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
  • MC4DN13
Definition
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25339201/
References
Ontology
Human Disease   ( DOID:0080360 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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