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"

36 matching diseasesClear search ×

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

ORPHA:1496

American trypanosomiasis

Chagas disease

ORPHA:3386

Amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:803

Amyotrophic lateral sclerosis type 4

ALS · ALS4

ORPHA:357043

CADINS disease

CARD11-associated atopy with dominant interference of NF-kB signaling syndrome

ORPHA:619972

Caffey disease

Infantile cortical hyperostosis

ORPHA:1310

Cap myopathy

Cap disease

ORPHA:171881

Caroli disease

ORPHA:53035

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

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

ORPHA:190

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

ORPHA:201

Dysplasia epiphysealis hemimelica

Trevor disease

ORPHA:1822

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

ORPHA:366

Heavy chain disease

HCD

ORPHA:86864

Hemophilia B

Congenital F9 deficiency · Christmas disease

ORPHA:98879

Histoplasmosis

Darling disease

ORPHA:390

Hurler syndrome

Hurler disease · MPS1H

ORPHA:93473

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

ORPHA:324561

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:300605

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

ORPHA:79395

Mu-heavy chain disease

mu-HCD

ORPHA:100024

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

ORPHA:576

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

ORPHA:363400