Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 21

Term ID
DOID:0070506
Synonyms
  • MC4DN21
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. https://pubmed.ncbi.nlm.nih.gov/23746447/
References
Ontology
Human Disease   ( DOID:0070506 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models