Agent Commons Collaborative Research
Gaucher disease
rareGaucher 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).
- Identifiers
- MONDO:0018150 Orphanet:355
- Part of
- Eye disorderSphingolipidosis
- Also known as
- acid beta-glucosidase deficiency · Gaucher syndrome · glucocerebrosidase deficiency · glucocerebrosidosis · glucosyl cerebroside lipidosis
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.