List of rare diseases: English - Français - Deutsch - Español - Português
 Addison Disease
 Adie Syndrome
 Alagille Syndrome
 Amyotrophic Lateral Sclerosis
 Angelman Syndrome
 Angiolymphoid Hyperplasia with Eosinophilia
 Arnold-Chiari Malformation
 Arthritis, Juvenile Rheumatoid
 Asperger Syndrome
 Bardet-Biedl Syndrome
 Barrett Esophagus
 Beckwith-Wiedemann Syndrome
 Behcet Syndrome
 Bloom Syndrome
 Bowen's Disease
 Brachial Plexus Neuropathies
 Brown-Sequard Syndrome
 Budd-Chiari Syndrome
 Burkitt Lymphoma
 Carcinoma 256, Walker
 Caroli Disease
 Charcot-Marie-Tooth Disease
 Chediak-Higashi Syndrome
 Chiari-Frommel Syndrome
 Chondrodysplasia Punctata
 Colonic Pseudo-Obstruction
 Colorectal Neoplasms, Hereditary Nonpolyposis
 Craniofacial Dysostosis
 Creutzfeldt-Jakob Syndrome
 Crohn Disease
 Cushing Syndrome
 Cystic Fibrosis
 Dandy-Walker Syndrome
 De Lange Syndrome
 Dementia, Vascular
 Dermatitis Herpetiformis
 DiGeorge Syndrome
 Diffuse Cerebral Sclerosis of Schilder
 Duane Retraction Syndrome
 Dupuytren Contracture
 Ebstein Anomaly
 Eisenmenger Complex
 Ellis-Van Creveld Syndrome
 Epidermal Necrolysis, Toxic
 Facial Hemiatrophy
 Factor XII Deficiency
 Fanconi Anemia
 Felty's Syndrome
 Fibrous Dysplasia, Polyostotic
 Fox-Fordyce Disease
 Friedreich Ataxia
 Gardner Syndrome
 Gaucher Disease
 Gerstmann Syndrome
 Giant Lymph Node Hyperplasia
 Glycogen Storage Disease Type I
 Glycogen Storage Disease Type II
 Glycogen Storage Disease Type IV
 Glycogen Storage Disease Type V
 Glycogen Storage Disease Type VII
 Goldenhar Syndrome
 Guillain-Barre Syndrome
 Hallermann's Syndrome
 Hamartoma Syndrome, Multiple
 Hartnup Disease
 Hepatolenticular Degeneration
 Hepatolenticular Degeneration
 Hereditary Sensory and Motor Neuropathy
 Hirschsprung Disease
 Histiocytic Necrotizing Lymphadenitis
 Histiocytosis, Langerhans-Cell
 Hodgkin Disease
 Horner Syndrome
 Huntington Disease
 Hyperostosis, Diffuse Idiopathic Skeletal
 Inappropriate ADH Syndrome
 Intestinal Polyps
 Isaacs Syndrome
 Kartagener Syndrome
 Kearns-Sayre Syndrome
 Klippel-Feil Syndrome
 Klippel-Trenaunay-Weber Syndrome
 Kluver-Bucy Syndrome
 Korsakoff Syndrome
 Lafora Disease
 Lambert-Eaton Myasthenic Syndrome
 Landau-Kleffner Syndrome
 Langer-Giedion Syndrome
 Leigh Disease
 Lesch-Nyhan Syndrome
 Leukodystrophy, Globoid Cell
 Li-Fraumeni Syndrome
 Long QT Syndrome
 Machado-Joseph Disease
 Mallory-Weiss Syndrome
 Marek Disease
 Marfan Syndrome
 Meckel Diverticulum
 Meige Syndrome
 Melkersson-Rosenthal Syndrome
 Meniere Disease
 Mikulicz' Disease
 Miller Fisher Syndrome
 Mobius Syndrome
 Moyamoya Disease
 Mucocutaneous Lymph Node Syndrome
 Mucopolysaccharidosis I
 Mucopolysaccharidosis II
 Mucopolysaccharidosis III
 Mucopolysaccharidosis IV
 Mucopolysaccharidosis VI
 Multiple Endocrine Neoplasia Type 1
 Munchausen Syndrome by Proxy
 Muscular Atrophy, Spinal
 Neuroaxonal Dystrophies
 Neuromyelitis Optica
 Neuronal Ceroid-Lipofuscinoses
 Niemann-Pick Diseases
 Noonan Syndrome
 Optic Atrophies, Hereditary
 Osteitis Deformans
 Osteolysis, Essential
 Paget Disease Extramammary
 Paget's Disease, Mammary
 Panniculitis, Nodular Nonsuppurative
 Papillon-Lefevre Disease
 Pelizaeus-Merzbacher Disease
 Pemphigus, Benign Familial
 Penile Induration
 Pericarditis, Constrictive
 Peroxisomal Disorders
 Peutz-Jeghers Syndrome
 Pick Disease of the Brain
 Pierre Robin Syndrome
 Pigmentation Disorders
 Pityriasis Lichenoides
 Polycystic Ovary Syndrome
 Polyendocrinopathies, Autoimmune
 Prader-Willi Syndrome
 Pupil Disorders
 Rett Syndrome
 Reye Syndrome
 Rubinstein-Taybi Syndrome
 Sandhoff Disease
 Sarcoma, Ewing's
 Schnitzler Syndrome
 Sjogren's Syndrome
 Sjogren-Larsson Syndrome
 Smith-Lemli-Opitz Syndrome
 Spinal Muscular Atrophies of Childhood
 Sturge-Weber Syndrome
 Sweating, Gustatory
 Takayasu Arteritis
 Tangier Disease
 Tay-Sachs Disease
 Thromboangiitis Obliterans
 Thyroiditis, Autoimmune
 Tietze's Syndrome
 Togaviridae Infections
 Tolosa-Hunt Syndrome
 Tourette Syndrome
 Uveomeningoencephalitic Syndrome
 Waardenburg's Syndrome
 Wegener Granulomatosis
 Weil Disease
 Werner Syndrome
 Williams Syndrome
 Wilms Tumor
 Wolff-Parkinson-White Syndrome
 Wolfram Syndrome
 Wolman Disease
 Zellweger Syndrome
 Zollinger-Ellison Syndrome
 von Willebrand Diseases

Others rare diseases or genetic conditions with: ORPHANET is a database dedicated to information on rare diseases and orphan drugs (available in French, English, German, Italian, Portuguese and Spanish)
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9
National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
(browse: by Genetic Conditions -by Genes - by Chromosomes)

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