congenital myasthenic syndrome 13
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.
MONDO:0000182
congenital myasthenic syndrome with tubular aggregates
is_a
CMS13
exact
CMSTA2
exact
DPAGT1 congenital myasthenic syndromes with glycosylation defect
exact
congenital myasthenic syndrome type 13
exact
congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1
exact
myasthenic syndrome, congenital, 13
related
myasthenic syndrome, congenital, 13, with tubular aggregates
exact
myasthenic syndrome, congenital, type 13
exact
SPBC15D4.04