# inherited pseudoxanthoma elasticum

> Human disease

**Wikidata**: [Q1052391](https://www.wikidata.org/wiki/Q1052391)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum)  
**Source**: https://4ort.xyz/entity/inherited-pseudoxanthoma-elasticum


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Monarch Disease Ontology release 2018-06-29
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. [Source](http://www.patient.co.uk/patientplus/p.htm)
6. UniProt
7. Mutations in ABCC6 cause pseudoxanthoma elasticum
8. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
9. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000091262/MONDO_0009925)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000091262/Orphanet_758)
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)