# congenital myasthenic syndrome 12

> human disease

**Wikidata**: [Q32139917](https://www.wikidata.org/wiki/Q32139917)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-12


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)