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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Gaucher disease type 2
Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease
Fetal Gaucher disease
Perinatal lethal Gaucher disease
Gaucher disease
Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency
Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
Gaucher disease type 3
Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease · Gaucher disease type 3C