Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 18

Term ID
DOID:0070503
Synonyms
  • MC4DN18
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/31155743/
References
Ontology
Human Disease   ( DOID:0070503 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models