Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 20

Term ID
DOID:0070505
Synonyms
  • MC4DN20
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. https://pubmed.ncbi.nlm.nih.gov/28247525/
References
Ontology
Human Disease   ( DOID:0070505 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models