| Metadata | |
|---|---|
| ID | DOID:0060333 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
| Definition | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. https://pubmed.ncbi.nlm.nih.gov/23599390/, https://pubmed.ncbi.nlm.nih.gov/34954817/ |
| Subsets |
DO_rare_slim |
| Synonyms |
MC5DN4 [EXACT] |
| Parent Relationships |