myopathy caused by variation in POMGNT1
Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0005336
myopathy
is_a
MONDO:0017741
disorder of protein O-glycosylation
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:0700223
hereditary skeletal muscle disorder
is_a
POMGNT1 myopathy
exact
POMGNT1-related myopathy
exact
myopathy caused by mutation in POMGNT1
exact