Disease association ontology term - MONDO:0014543 - congenital myasthenic syndrome 14
Term summary
- ID
- MONDO:0014543
- Name
- congenital myasthenic syndrome 14
- Ontology or CV name
- Disease association
- Definition
- Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.