GM1 gangliosidosis
A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0005328
eye disorder
is_a
MONDO:0005381
bone disorder
is_a
MONDO:0017719
gangliosidosis
is_a
Beta galactosidase 1 deficiency
related
Beta-galactosidase-1 deficiency
exact
Beta-galactosidosis
related
GLB 1 deficiency
related
GLB1 deficiency
exact
GM>1< gangliosidosis
exact
Landing disease
exact
Landing syndrome
exact
gangliosidosis GM1
exact