Disease association ontology term - MONDO:0013883 - congenital myasthenic syndrome 13
Term summary
- ID
- MONDO:0013883
- Name
- congenital myasthenic syndrome 13
- 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 DPAGT1 gene.
