# paramyotonia congenita

> human disease

**Wikidata**: [Q493103](https://www.wikidata.org/wiki/Q493103)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Paramyotonia_congenita)  
**Source**: https://4ort.xyz/entity/paramyotonia-congenita


## References

1. Monarch Disease Ontology release 2018-06-29
2. Freebase Data Dumps. 2013
3. UniProt
4. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000007314/MONDO_0008195)