# Bart-Pumphrey syndrome

> Human disease

**Wikidata**: [Q4865826](https://www.wikidata.org/wiki/Q4865826)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Bart–Pumphrey_syndrome)  
**Source**: https://4ort.xyz/entity/bart-pumphrey-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165474/MONDO_0007866)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165474/Orphanet_2698)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)