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mitochondrial complex V (ATP synthase) deficiency nuclear type 1
Summary
- Synonym
-
- MC5DN1
- Definition
- A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
- Super Class
- mitochondrial complex V (ATP synthase) deficiency
External Links
- Disease Ontology
- DOID:0050768
- Mondo Disease Ontology
- OMIM
