Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 12

Term ID
DOID:0070498
Synonyms
  • MC4DN12
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/24462369/
References
Ontology
Human Disease   ( DOID:0070498 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models