# mitochondrial complex V (ATP synthase) deficiency nuclear type 2

> mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21

**Wikidata**: [Q19587393](https://www.wikidata.org/wiki/Q19587393)  
**Source**: https://4ort.xyz/entity/mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-2


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175606/MONDO_0013546)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175606/Orphanet_1194)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023