Term Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 |
---|---|
Synonyms: | MC5DN5 |
Definition: | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. |
Ontology: | Human Disease [DOID:0070463] ( DOID:0070463 ) |