Rare Disease Library

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"

6 matching diseasesClear search ×

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

ORPHA:77260

Fetal Gaucher disease

Perinatal lethal Gaucher disease

ORPHA:85212

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

ORPHA:355

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

ORPHA:77259

Gaucher disease type 3

Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease

ORPHA:77261

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

ORPHA:2072