Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 14

Term ID
DOID:0070499
Synonyms
  • MC4DN14
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/25604084/
References
Ontology
Human Disease   ( DOID:0070499 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models