Gaucher disease
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
MONDO:0005328
eye disorder
is_a
MONDO:0019255
sphingolipidosis
is_a
Gaucher disease
exact
Gaucher syndrome
exact
acid beta-glucosidase deficiency
exact
acute cerebral Gaucher disease
narrow
glucocerebrosidase deficiency
exact
glucocerebrosidosis
exact
glucosyl cerebroside lipidosis
related
glucosylceramidase deficiency
exact
glucosylceramide beta-glucosidase deficiency
exact
lipoid histiocytosis (kerasin type)
exact
sphingolipidosis 1
related