# Bohring-Opitz syndrome

> rare genetic syndrome caused by a mutation in the ASXL1 gene

**Wikidata**: [Q4938225](https://www.wikidata.org/wiki/Q4938225)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Bohring–Opitz_syndrome)  
**Source**: https://4ort.xyz/entity/bohring-opitz-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31e0ce4d-aeb7-4983-9ec2-85178d7f40f0-2021-07-30T160000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171456/MONDO_0011510)