Term Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 |
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Synonyms: | MC5DN7 |
Definition: | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. |
Ontology: | Human Disease [DOID:0070464] ( DOID:0070464 ) |