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A LIST OF
RARE DISEASES (Incomplete)
Acrocephalosyndactylia
Acrodermatitis
Addison Disease
Adie Syndrome
Adiposis Dolorosa
Alagille Syndrome
Amylose
Amyotrophic Lateral
Sclerosis
Angelman Syndrome
Angina Pectoris, Variant
Angiolymphoid
Hyperplasia with Eosinophilia
Arnold-Chiari
Malformation
Asperger Syndrome
Bardet-Biedl Syndrome
Barrett Esophagus
Beckwith-Wiedemann
Syndrome
Behcet Syndrome
Bernard-Soulier Syndrome
Bloom Syndrome
Bowen's Disease
Brachial Plexus
Neuropathies
Brown-Sequard Syndrome
Burkitt Lymphoma
Caroli Disease
Chagas Disease
Charcot-Marie-Tooth
Disease
Chediak-Higashi Syndrome
Chiari-Frommel Syndrome
Chondrodysplasia Punctata
Choreatic Disorders
Churg-Strauss Syndrome
Colonic
Pseudo-Obstruction
Colorectal Neoplasms,
Hereditary Nonpolyposis
Craniofacial Dysostosis
Creutzfeldt-Jakob
Syndrome
Crohn Disease
Cushing Syndrome
Dandy-Walker Syndrome
De Lange Syndrome
Dermatitis Herpetiformis
DiGeorge Syndrome
Diffuse Cerebral
Sclerosis of Schilder
Duane Retraction Syndrome
Dupuytren's Contracture
Dysautonomia, Familial
Ebstein's Anomaly
Ehlers-Danlos Syndrome
Eisenmenger Complex
Ellis-Van Creveld
Syndrome
Encephalitis
Enchondromatosis
Epidermal Necrolysis,
Toxic
Fabry Disease
Facial Hemiatrophy
Factor XII Deficiency
Fanconi Anemia
Felty's Syndrome
Fibrous Dysplasia,
Polyostotic
Fox-Fordyce Disease
Friedreich Ataxia
Fusobacterium
Gardner Syndrome
Gaucher Disease
Gerstmann Syndrome
Giant Lymph Node
Hyperplasia
Gilbert Disease
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
Goodpasture Syndrome
Guillain-Barre Syndrome
Gynatresia
Hallermann's Syndrome
Hallervorden-Spatz
Syndrome
Hamartoma Syndrome,
Multiple
Hand-Schueller-Christian
Syndrome
Hartnup Disease
Hemoglobinuria,
Paroxysmal
Hepatic Vein Thrombosis
Hepatolenticular
Degeneration
Hereditary Motor and
Sensory Neuropathies
Hippel-Lindau Disease
Hirschsprung Disease
Histiocytic Necrotizing
Lymphadenitis
Histiocytosis,
Langerhans-Cell
Histiocytosis, Sinus
Hodgkin Disease
Horner Syndrome
Huntington Disease
Hyperaldosteronism
Hyperostosis, Diffuse
Idiopathic Skeletal
Hypopituitarism
Inappropriate ADH
Syndrome
Intestinal Polyps
Isaacs Syndrome
Jaundice, Chronic
Idiopathic
Juvenile Rheumatoid
Arthritis
Kallmann Syndrome
Kartagener Syndrome
Kearns-Sayer Syndrome
Keratosis Follicularis
Klinefelter 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
Letterer-Siwe Disease
Leukodystrophy, Globoid
Cell
Li-Fraumeni Syndrome
Long QT Syndrome
Lymphoma, Mantle-Cell
Machado-Joseph Disease
Mallory-Weiss Syndrome
Marek Disease
Marfan Syndrome
Meckel Diverticulum
Meige Syndrome
Melkersson-Rosenthal
Syndrome
Meniere's Disease
Mikulicz' Disease
Miller Fisher Syndrome
Mobius Syndrome
Moyamoya Disease
Mucocutaneous Lymph Node
Syndrome
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Mullerian Ducts
Multiple Endocrine
Neoplasia Type 1
Munchausen Syndrome by
Proxy
Muscular Atrophy, Spinal
Nelson Syndrome
Nephritis, Hereditary
Nephroblastoma
Neuroaxonal Dystrophies
Neuromyelitis Optica
Neuronal
Ceroid-Lipofuscinosis
Niemann-Pick Diseases
Noonan Syndrome
Optic Atrophies,
Hereditary
Osteitis Deformans
Osteochondritis
Osteochondrodysplasias
Osteolysis, Essential
Paget's Disease,
Extramammary
Paget's Disease, Mammary
Panniculitis, Nodular
Nonsuppurative
Papillon-Lefevre Disease
Paralysis
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
Poikiloderma Congenitale
Polycystic Ovary Syndrome
Polyendocrinopathies,
Autoimmune
Prader-Willi Syndrome
Progeria
Pulmonary Fibrosis
Pupil Disorders
Raynaud Disease
Reiter Disease
Rett Syndrome
Reye Syndrome
Rubinstein-Taybi Syndrome
Sandhoff Disease
Sarcoma, Ewing's
Scheuermann's Disease
Shwartzman Phenomenon
Shy-Drager Syndrome
Sjogren's Syndrome
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz
Syndrome
Spinal Muscular
Atrophies of Childhood
Stevens-Johnson Syndrome
Sturge-Weber Syndrome
Sweating, Gustatory
Sweet's Syndrome
Takayasu's Arteritis
Tangier Disease
Tay-Sachs Disease
Thromboangiitis
Obliterans
Thyroiditis, Autoimmune
Tietze's Syndrome
Togaviridae Infections
Tolosa-Hunt Syndrome
Tourette Syndrome
Turner Syndrome
Uveomeningoencephalitic
Syndrome
Vascular Dementia
von Willebrand Disease
Waardenburg's Syndrome
Waldenstrom
Macroglobulinemia
Walker Carcinoma 256
Wegener's Granulomatosis
Weil Disease
Werner Syndrome
Williams Syndrome
Wiskott-Aldrich Syndrome
Wolff-Parkinson-White
Syndrome
Wolfram Syndrome
Wolman Disease
Zellweger Syndrome
Zollinger-Ellison
Syndrome
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