Term Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 3 |
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Synonyms: | MC5DN3 |
Definition: | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. |
Ontology: | Human Disease [DOID:0060332] ( DOID:0060332 ) |