autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
MONDO:0000173
muscular dystrophy-dystroglycanopathy, type C
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0700068
myopathy caused by variation in POMGNT1
is_a
LGMD-POMGNT1 related
exact
LGMD2O
exact
MDDGC3
exact
POMGNT1 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1
exact
limb-girdle muscular dystrophy type 2O
related
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
related