# congenital myasthenic syndrome 11

> human disease

**Wikidata**: [Q32140112](https://www.wikidata.org/wiki/Q32140112)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-11


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)