congenital myasthenic syndrome 12
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.
MONDO:0000182
congenital myasthenic syndrome with tubular aggregates
is_a
MONDO:0024322
disorder of glycosylation
is_a
CMS12
exact
GFPT1 congenital myasthenic syndromes with glycosylation defect
exact
congenital myasthenic syndrome type 12
exact
congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1
exact
myasthenia, congenital, 12, with tubular aggregates
exact
myasthenic syndrome, congenital, 12
related
myasthenic syndrome, congenital, type 12
exact
SPBC12C2.11