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"

39 matching diseasesClear search ×

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

ORPHA:77259

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

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

ORPHA:206443

Mild Canavan disease

Juvenile Canavan disease

ORPHA:314918

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Basement membrane disease

ORPHA:93550

OBSOLETE: Binswanger disease

ORPHA:1249

OBSOLETE: Cardiac disease with cataract

ORPHA:98647

OBSOLETE: Cerebral disease with cataract

ORPHA:98645

OBSOLETE: CLN4A disease

ORPHA:228340

OBSOLETE: CLN9 disease

ORPHA:228357

OBSOLETE: Farmer's lung disease

ORPHA:99906

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

ORPHA:308604

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

ORPHA:308573

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

ORPHA:139491

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

ORPHA:2778

OBSOLETE: Juvenile-onset SAPHO syndrome

OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324989

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease

ORPHA:168491

OBSOLETE: Letterer-Siwe disease

OBSOLETE: Acute and disseminated Langerhans cell histiocytosis

ORPHA:99870

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

OBSOLETE: Rare acquired eye disease

ORPHA:101949

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

ORPHA:255199

OBSOLETE: Unstable hemoglobin disease

ORPHA:99139

Protracted juvenile CLN3 disease

Protacted neuronal ceroid lipofuscinosis type 3

ORPHA:699796

Sandhoff disease, juvenile form

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

ORPHA:309162

Tay-Sachs disease, juvenile form

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

ORPHA:309185