Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 17

Term ID
DOID:0070502
Synonyms
  • MC4DN17
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. https://pubmed.ncbi.nlm.nih.gov/25175347/
References
Ontology
Human Disease   ( DOID:0070502 )
Relationships
is a type of
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Genes Involved
Zebrafish Models