Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 22

Term ID
DOID:0070507
Synonyms
  • MC4DN22
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. https://pubmed.ncbi.nlm.nih.gov/33169484/
References
Ontology
Human Disease   ( DOID:0070507 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models