Rare Diseases
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Acromegaly2
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Adrenoleukodystrophy1
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Agenesis of the corpus callosum1
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Alkaptonuria1
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Alström syndrome1
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Angelman syndrome1
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Anti-NMDA receptor encephalitis1
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Arginase deficiency1
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Arterial tortuosity syndrome1
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Bainbridge-Ropers syndrome1
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Bardet-Biedl syndrome1
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Basal cell nevus syndrome1
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Batten disease1
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Beals syndrome1
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Beta-thalassemia1
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Biotinidase deficiency1
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Bloom syndrome1
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Blue Rubber Bleb Nevus Syndrome1
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Bohring-Opitz syndrome1
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Brain calcifications syndrome1
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Brown-Vialetto-Van Laere syndrome1
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Canavan disease1
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Cardiomyopathy1
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Charcot-Marie-Tooth disease1
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Chediak-Higashi syndrome1
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Chronic Granulomatous Disease1
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Cockayne syndrome1
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Complex Regional Pain Syndrome1
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Conradi-Hünermann-Happle syndrome1
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Cri-du-chat syndrome1
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Cystic fibrosis1
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De Lange syndrome1
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DiGeorge syndrome1
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Duchenne muscular dystrophy1
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Dystonia1
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Ectodermal dysplasia1
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Ehlers-Danlos syndrome1
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Emery-Dreifuss muscular dystrophy1
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Encephalopathy1
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Epidermolysis bullosa1
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Familial Amyloid Polyneuropathy1
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Familial Hypercholesterolemia1
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Familial Mediterranean fever1
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Fanconi Anemia1
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Fanconi-Bickel syndrome1
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Fibrodysplasia Ossificans Progressiva (FOP)1
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Friedreich's Ataxia1
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Galactosemia1
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Gaucher disease1
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Gauchers syndrome1
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Glutaric aciduria type 11
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Guillain-Barré syndrome1
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Histiocytosis X1
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Holt-Oram syndrome1
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Hyper IgM syndrome1
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Hypomelanosis of Ito1
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Hypophosphatasia1
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Ichthyosis1
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Idiopathic pulmonary fibrosis1
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Joubert syndrome1
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Klinefelter syndrome1
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Lafora disease1
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Leber's hereditary optic neuropathy1
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Leigh syndrome1
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Lennox-Gastaut syndrome1
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Lesch-Nyhan syndrome1
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Limb-Girdle muscular dystrophy1
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Lupus1
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Machado-Joseph disease1
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Maple syrup urine disease1
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Marfan syndrome1
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MDS (Myelodysplastic syndromes)1
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Menkes disease1
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Metachromatic Leukodystrophy1
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Mitochondrial diseases1
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Moebius syndrome1
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Morquio syndrome1
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Mucopolysaccharidosis1
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Mucopolysaccharidosis type II1
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Neurofibromatosis type 11
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Neurofibromatosis type 21
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Niemann-Pick disease1
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Noonan syndrome1
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Ormond disease1
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Osteogenesis imperfecta1
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Pallister-Killian syndrome1
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Paroxysmal Nocturnal Hemoglobinuria1
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Patau syndrome1
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Phelan-McDermid syndrome1
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Pierre Robin sequence1
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Prader-Willi syndrome1
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Pulmonary arterial hypertension1
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Retinitis pigmentosa1
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Rett syndrome1
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Rosenberg-Chutorian syndrome1
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Sandhoff disease1
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Schimke Immuno-Osseous Dysplasia1
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Sickle cell disease1
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Spinal muscular atrophy1
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Stargardt disease1
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Stiff-Person syndrome1
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Tay-Sachs disease1
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Tuberous sclerosis1
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Turner syndrome1
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Usher syndrome1
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VACTERL association1
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Vascular Ehlers-Danlos syndrome1
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Von Hippel-Lindau syndrome1
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Wilson disease1
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Zellweger syndrome1