Rare Disease Library

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

Adult CLN1 disease

Adult neuronal ceroid lipofuscinosis type 1 · Céroïde lipofuscinose neuronale adulte type 1

Adult CLN5 disease

Adult neuronal ceroid lipofuscinosis type 5

Adult CLN6 disease

Adult neuronal ceroid lipofuscinosis type 6

Adult Refsum disease

Classic Refsum disease · HMSN 4

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

American trypanosomiasis

Chagas disease

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Arthrogryposis-anterior horn cell disease syndrome

AAHD · Vuopala disease

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

Autosomal dominant adult-onset proximal spinal muscular atrophy

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

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

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

Buerger disease

Thromboangiitis obliterans

CADINS disease

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

Caffey disease

Infantile cortical hyperostosis

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Cap myopathy

Cap disease

Caroli disease

Castleman disease

Angiofollicular ganglionic hyperplasia · Angiofollicular lymph hyperplasia

Cat-scratch disease

Bartonellosis due to Bartonella henselae infection

Central core disease

Chylomicron retention disease

Anderson disease · CMRD

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Classic Hodgkin lymphoma

Classic Hodgkin disease

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