Search Ontology:
Human Disease

mitochondrial complex V (ATP synthase) deficiency nuclear type 3

Term ID
DOID:0060332
Synonyms
  • MC5DN3
Definition
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/20566710/
References
Ontology
Human Disease   ( DOID:0060332 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models