Rare Disease Library

Gorham-Stout disease

Gorham disease · Gorham syndrome

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

American trypanosomiasis

Chagas disease

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Behçet disease

BENTA disease

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

Best vitelliform macular dystrophy

BMD · BVMD

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Brill-Zinsser disease

Brill disease · Recrudescent typhus

CADINS disease

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

Caffey disease

Infantile cortical hyperostosis

Cap myopathy

Cap disease

Caroli disease

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

Congenital erythropoietic porphyria

CEP · Günther disease

Congenital factor V deficiency

Owren disease · Parahemophilia

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Danon disease

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

Darier disease

Darier-White disease · Keratosis follicularis

Dent disease

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

Dysplasia epiphysealis hemimelica

Trevor disease

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Familial expansile osteolysis

Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis