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Human Disease

mitochondrial complex V (ATP synthase) deficiency nuclear type 1

Term ID
DOID:0050768
Synonyms
  • MC5DN1
Definition
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. http://omim.org/entry/604273
References
Ontology
Human Disease   ( DOID:0050768 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models