| Metadata | |
|---|---|
| ID | DOID:0111143 |
| Name | mitochondrial complex V (ATP synthase) deficiency |
| Definition | A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. https://www.ncbi.nlm.nih.gov/pubmed/21874297 |
| Xrefs |
SNOMEDCT_US_2023_03_01:780820008 |
| Subsets |
DO_rare_slim |
| Parent Relationships |