muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type A
is_a
MONDO:0700075
congenital muscular dystrophy caused by variation in POMGNT2
is_a
MDDGA8
related
POMGNT2 muscular dystrophy-dystroglycanopathy, type A
exact
muscle-eye-brain-POMGNT2 related
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
exact
muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2
exact