Rare Disease Library

Medullary sponge kidney

Cacchi-Ricci disease · MSK

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

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

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

Keratoderma hereditarium mutilans with ichthyosis

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

Kikuchi-Fujimoto disease

Histiocytic necrotizing lymphadenitis · Kikuchi disease

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Rare cardiac disease

Rickettsial disease

Rickettsiae disease