Rare Disease Library

Hemophilia B

Congenital F9 deficiency · Christmas disease

American trypanosomiasis

Chagas disease

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

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

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

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

Dent disease

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

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Heavy chain disease

HCD

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease