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"

27 matching diseasesClear search ×

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

Adult CLN1 disease

Adult neuronal ceroid lipofuscinosis type 1 · Céroïde lipofuscinose neuronale adulte type 1

ORPHA:699745

Adult CLN5 disease

Adult neuronal ceroid lipofuscinosis type 5

ORPHA:699812

Adult CLN6 disease

Adult neuronal ceroid lipofuscinosis type 6

ORPHA:700477

Adult-onset Steinert myotonic dystrophy

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

ORPHA:589830

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

ORPHA:829

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

Niemann-Pick disease type C, adult neurologic onset

ORPHA:216986

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

ORPHA:93668

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Adult-onset SAPHO syndrome

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

ORPHA:324982

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

ORPHA:93963

OBSOLETE: Binswanger disease

ORPHA:1249

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, 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 neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Letterer-Siwe disease

OBSOLETE: Acute and disseminated Langerhans cell histiocytosis

ORPHA:99870

OBSOLETE: Niemann-Pick disease type E

ORPHA:99022

OBSOLETE: Rare acquired eye disease

ORPHA:101949

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

ORPHA:35689