Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 19

Term ID
DOID:0070504
Synonyms
  • MC4DN19
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. https://pubmed.ncbi.nlm.nih.gov/28386624/
References
Ontology
Human Disease   ( DOID:0070504 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models