# Legius syndrome

> rare genetic skin pigmentation disorder characterized by multiple cafe-au-lait macules

**Wikidata**: [Q890470](https://www.wikidata.org/wiki/Q890470)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Legius_syndrome)  
**Source**: https://4ort.xyz/entity/legius-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/3ba44430-8f71-4b94-a6f1-7f66d3a27897--2019-01-24T05:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ba44430-8f71-4b94-a6f1-7f66d3a27897-2019-01-24T050000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166068/MONDO_0012669)