# congenital erythropoietic porphyria

> congenital human disease

**Wikidata**: [Q1759389](https://www.wikidata.org/wiki/Q1759389)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Gunther_disease)  
**Source**: https://4ort.xyz/entity/congenital-erythropoietic-porphyria


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000188690/MONDO_0009902)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000188690/Orphanet_79277)
8. BabelNet
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. Quora