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"

105 matching diseasesClear search ×

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

ORPHA:64692

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

ORPHA:36397

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

ORPHA:99000

American trypanosomiasis

Chagas disease

ORPHA:3386

Amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:803

Amyotrophic lateral sclerosis type 4

ALS · ALS4

ORPHA:357043

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

ORPHA:656071

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

ORPHA:464336

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Brill-Zinsser disease

Brill disease · Recrudescent typhus

ORPHA:99990

CADINS disease

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

ORPHA:619972

Caffey disease

Infantile cortical hyperostosis

ORPHA:1310

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

ORPHA:141

Cap myopathy

Cap disease

ORPHA:171881

Caroli disease

ORPHA:53035

Castleman disease

Angiofollicular ganglionic hyperplasia · Angiofollicular lymph hyperplasia

ORPHA:160

Cat-scratch disease

Bartonellosis due to Bartonella henselae infection

ORPHA:50839

Chylomicron retention disease

Anderson disease · CMRD

ORPHA:71

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

ORPHA:617408

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

Coccidioidomycosis

California disease · Coccidioides infection

ORPHA:228123

Color-vision disease

ORPHA:98658

Congenital factor V deficiency

Owren disease · Parahemophilia

ORPHA:326

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

ORPHA:201

Cranio-osteoarthropathy

Currarino disease · Currarino idiopathic osteoarthropathy

ORPHA:1525

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

ORPHA:96253

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

ORPHA:34587

Darier disease

Darier-White disease · Keratosis follicularis

ORPHA:218

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

ORPHA:40923

Erythema palmare hereditarium

Lane disease · Red palms disease

ORPHA:231031

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

ORPHA:324

Familial LCAT deficiency

Complete LCAT deficiency · FLD

ORPHA:79293

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

ORPHA:342