# mitochondrial DNA depletion syndrome 8a

> Human disease

**Wikidata**: [Q26492820](https://www.wikidata.org/wiki/Q26492820)  
**Source**: https://4ort.xyz/entity/mitochondrial-dna-depletion-syndrome-8a


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000048392/MONDO_0012792)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000048392/Orphanet_255235)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)