# encephalocraniocutaneous lipomatosis

> rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations

**Wikidata**: [Q17540092](https://www.wikidata.org/wiki/Q17540092)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Encephalocraniocutaneous_lipomatosis)  
**Source**: https://4ort.xyz/entity/encephalocraniocutaneous-lipomatosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](http://emedicine.medscape.com/article/1117060-overview)
3. UniProt
4. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000077782/MONDO_0013074)
6. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)