# Camurati-Engelmann disease

> rare disease

**Wikidata**: [Q498487](https://www.wikidata.org/wiki/Q498487)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Camurati–Engelmann_disease)  
**Source**: https://4ort.xyz/entity/camurati-engelmann-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105329/MONDO_0007542)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. Human Phenotype Ontology release 2018-03-08