| Label | Id | |
|---|---|---|
| CMS12 | 0012518 | |
| congenital myasthenia 12 with tubular aggregates | 0012518 | |
| myasthenia, congenital, 12, with tubular aggregates | 0012518 | |
| congenital myasthenic syndrome type 12 | 0012518 | |
| myasthenic syndrome, congenital, type 12 | 0012518 | |
| GFPT1 congenital myasthenic syndromes with glycosylation defect | 0012518 | |
| congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1 | 0012518 |