Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 6

Term ID
DOID:0080358
Synonyms
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
  • MC4DN6
Definition
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. https://pubmed.ncbi.nlm.nih.gov/10545952/
References
Ontology
Human Disease   ( DOID:0080358 )
Relationships
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Genes Involved
Zebrafish Models