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"

53 matching diseasesClear search ×

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

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 hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

ORPHA:247676

Adult Krabbe disease

ORPHA:206448

Adult Refsum disease

Classic Refsum disease · HMSN 4

ORPHA:773

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

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

ORPHA:228329

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

ORPHA:228337

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

ORPHA:314629

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

ORPHA:314632

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

ORPHA:352709

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

ORPHA:699708

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

ORPHA:228349

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

ORPHA:228346

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

ORPHA:228343

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

ORPHA:228360

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

ORPHA:228363

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

ORPHA:228366

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

ORPHA:228354

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

ORPHA:93668

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

ORPHA:306588

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: Hand-Schüller-Christian disease

OBSOLETE: Multifocal eosinophilic granuloma · OBSOLETE: Chronic multifocal Langerhans cell histiocytosis

ORPHA:99873

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: 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: Metabolic disease with cataract

ORPHA:98712

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

ORPHA:93686

OBSOLETE: Niemann-Pick disease type E

ORPHA:99022

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

OBSOLETE: Pigeon-breeder lung disease

OBSOLETE: Bird fancier lung

ORPHA:99908

OBSOLETE: Primary glomerular disease

ORPHA:102373

OBSOLETE: Rare acquired eye disease

ORPHA:101949