# lipoid proteinosis

> rare recessive genetic disorder

**Wikidata**: [Q2500124](https://www.wikidata.org/wiki/Q2500124)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Urbach–Wiethe_disease)  
**Source**: https://4ort.xyz/entity/lipoid-proteinosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000143369/MONDO_0009530)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)