Rare Disease Library

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

Addison disease

Primary Addison disease · Autoimmune adrenalitis

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

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

American trypanosomiasis

Chagas disease

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

Best vitelliform macular dystrophy

BMD · BVMD

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

Chylomicron retention disease

Anderson disease · CMRD

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

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

Color-vision disease

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

Danon disease

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

Dent disease

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

Erythema palmare hereditarium

Lane disease · Red palms disease

Giant cell arteritis

Horton disease · Temporal arteritis

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Hemoglobin C disease

HbCC disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome