Disease association ontology term - MONDO:0012518 - congenital myasthenic syndrome 12
Term summary
- ID
- MONDO:0012518
- Name
- congenital myasthenic syndrome 12
- 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 GFPT1 gene.
