| Metadata | |
|---|---|
| ID | DOID:0050768 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 1 |
| Definition | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. http://omim.org/entry/604273 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MC5DN1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |