# mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

> mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11

**Wikidata**: [Q18553463](https://www.wikidata.org/wiki/Q18553463)  
**Source**: https://4ort.xyz/entity/mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)