# congenital myasthenic syndrome 8

> human disease

**Wikidata**: [Q32139880](https://www.wikidata.org/wiki/Q32139880)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-8


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000188157/MONDO_0014052)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)