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"

26 matching diseasesClear search ×

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

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

ORPHA:365

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

ORPHA:308552

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

ORPHA:420429

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

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

ORPHA:216981

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Binswanger disease

ORPHA:1249

OBSOLETE: CLN4A disease

ORPHA:228340

OBSOLETE: CLN9 disease

ORPHA:228357

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: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

ORPHA:2778

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Juvenile-onset SAPHO syndrome

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

ORPHA:324989