# mitochondrial complex III deficiency nuclear type 5

> mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has material basis in homozygous mutation in the UQCRC2 gene on chromosome 16p12

**Wikidata**: [Q26492809](https://www.wikidata.org/wiki/Q26492809)  
**Source**: https://4ort.xyz/entity/mitochondrial-complex-iii-deficiency-nuclear-type-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)