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"

17 matching diseasesClear search ×

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

ORPHA:77259

Fetal Gaucher disease

Perinatal lethal Gaucher disease

ORPHA:85212

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

ORPHA:355

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

ORPHA:77260

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

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:300605

Juvenile CLN1 disease

Juvenile neuronal ceroid lipofuscinosis type 1

ORPHA:699739

Juvenile CLN10 disease

Juvenile neuronal ceroid lipofuscinosis type 10

ORPHA:700497

Juvenile CLN2 disease

Juvenile neuronal ceroid lipofuscinosis type 2

ORPHA:699769

Juvenile CLN3 disease

Juvenile neuronal ceroid lipofuscinosis type 3

ORPHA:699780

Juvenile CLN5 disease

Juvenile neuronal ceroid lipofuscinosis type 5

ORPHA:699807

Juvenile CLN6 disease

Juvenile neuronal ceroid lipofuscinosis type 6

ORPHA:700472

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

ORPHA:248111

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

Mild Canavan disease

Juvenile Canavan disease

ORPHA:314918

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264