Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 16

Term ID
DOID:0070501
Synonyms
  • MC4DN16
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/31290619/
References
Ontology
Human Disease   ( DOID:0070501 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models