myopathy caused by variation in POMGNT2
Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.
MONDO:0005336
myopathy
is_a
MONDO:0017741
disorder of protein O-glycosylation
is_a
MONDO:0700223
hereditary skeletal muscle disorder
is_a
POMGNT2 myopathy
exact
POMGNT2-related myopathy
exact
myopathy caused by mutation in POMGNT2
exact