# erythropoietic protoporphyria

> acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue

**Wikidata**: [Q1759600](https://www.wikidata.org/wiki/Q1759600)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Erythropoietic_protoporphyria)  
**Source**: https://4ort.xyz/entity/erythropoietic-protoporphyria


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene
6. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
7. BabelNet
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)