# facial dysmorphism-immunodeficiency-livedo-short stature syndrome

> human disease

**Wikidata**: [Q55784493](https://www.wikidata.org/wiki/Q55784493)  
**Source**: https://4ort.xyz/entity/facial-dysmorphism-immunodeficiency-livedo-short-stature-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000177084/MONDO_0014058)
5. UMLS 2023