# Pierpont syndrome

> human disease

**Wikidata**: [Q55783259](https://www.wikidata.org/wiki/Q55783259)  
**Source**: https://4ort.xyz/entity/pierpont-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A specific mutation in TBL1XR1 causes Pierpont syndrome.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000177565/MONDO_0011213)