# Baraitser-Winter syndrome

> Human disease

**Wikidata**: [Q18966102](https://www.wikidata.org/wiki/Q18966102)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Fryns–Aftimos_syndrome)  
**Source**: https://4ort.xyz/entity/baraitser-winter-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000075624/Orphanet_2995)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000184009/Orphanet_2995)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023