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 ×

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

ORPHA:314632

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

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

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

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

ORPHA:700487

Infantile CLN1 disease

Infantile neuronal ceroid lipofuscinosis type 1

ORPHA:699718

Infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

ORPHA:699751

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

Late infantile CLN1 disease

Late infantile neuronal ceroid lipofuscinosis type 1

ORPHA:699734

Late infantile CLN10 disease

Late infantile neuronal ceroid lipofuscinosis type 10

ORPHA:700492

Late infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

ORPHA:699761

Late infantile CLN5 disease

Late infantile neuronal ceroid lipofuscinosis type 5

ORPHA:699802

Late infantile CLN6 disease

Late infantile neuronal ceroid lipofuscinosis type 6

ORPHA:700467

Late infantile CLN8 disease

Late infantile neuronal ceroid lipofuscinosis type 8

ORPHA:700484

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

Northern epilepsy

Progressive epilepsy-intellectual disability syndrome, Finnish type · CLN8 disease, Northern epilepsy variant

ORPHA:1947

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

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

Protracted juvenile CLN3 disease

Protacted neuronal ceroid lipofuscinosis type 3

ORPHA:699796