Rare Disease Library

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Alexander disease

AxD

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

American trypanosomiasis

Chagas disease

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

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Behçet disease

BENTA disease

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

Best vitelliform macular dystrophy

BMD · BVMD

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · Kugelberg-Welander disease

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Buerger disease

Thromboangiitis obliterans

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of adult

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

CADINS disease

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

Caffey disease

Infantile cortical hyperostosis

Cap myopathy

Cap disease

Caroli disease

Chronic beryllium disease

Chronic beryllium lung disease · Berylliosis

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