# congenital myasthenic syndrome 5

> human disease

**Wikidata**: [Q32140002](https://www.wikidata.org/wiki/Q32140002)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000206561/Orphanet_98915)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023