# congenital myasthenic syndrome 4C

> human disease

**Wikidata**: [Q32140167](https://www.wikidata.org/wiki/Q32140167)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-4c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)