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"

18 matching diseasesClear search ×

Tay-Sachs disease, juvenile form

Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form

ORPHA:309185

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

Juvenile-onset Steinert myotonic dystrophy

Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1

ORPHA:589827

Mild Canavan disease

Juvenile Canavan disease

ORPHA:314918

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Tay-Sachs disease, B1 variant

OBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant

ORPHA:309239

Sandhoff disease, juvenile form

Beta-hexosaminidase subunit beta deficiency, juvenile form · GM2 gangliosidosis, Sandhoff variant, juvenile form

ORPHA:309162

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

ORPHA:845

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form

ORPHA:309192

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form

ORPHA:309178