| Metadata | |
|---|---|
| ID | DOID:0060332 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 3 |
| Definition | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/20566710/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MC5DN3 [EXACT] |
| Parent Relationships |