# mitochondrial complex V (ATP synthase) deficiency nuclear type 4

> mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q

**Wikidata**: [Q19587395](https://www.wikidata.org/wiki/Q19587395)  
**Source**: https://4ort.xyz/entity/mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)