Term Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
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Synonyms: | MC5DN4 |
Definition: | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. |
Ontology: | Human Disease [DOID:0060333] ( DOID:0060333 ) |