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NORD Rare Disease:
Text List


NORD Rare Diseases List:
NORD Rare Disease:
Text List

Here is a pipeline-delimited list of NORD's Rare Diseases

To add these words to your spell checker:

First, a word about the spelling of products and drugs. As a general rule, the chemical name of a drug, usually called the "generic name," is not capitalized, while the proper or trade name is. There are some exceptions however, such as when drug companies take a generic drug name and preface it with certain letters. A good example of this spelling protocol is "Apo-Furosemide," which is the brand, trade, or proper name of the generic drug "furosemide" made by Apotex Inc. Because the generic name becomes part of a proper name, it should be capitalized. Secondly, when adding prescription and nonprescription drug and product names to your speller program, be careful what you add. Nowadays many companies spell the actual drug or product just a little bit different than the actual generic name. If you add a slightly altered drug word, such as "Oxybutyn" (the brand, trade, or proper name) for "oxybutynin" (the generic name), your speller will accept the proper name when you may have actually intended to type the generic version. You will also come across similar decisions when adding products whose proper names may have manufactured words such as "Sunfilter" in "Bain de Soleil All Day Sunfilter."

With your word-processing program or a text editor open, use your mouse to select all the words below in one group. Then, while the words are still selected, copy the words by keying <CTRL>+<C>. This copies the selected text to your computer's "clipboard." Go to a new page in your word-processing program or text editor and key <CTRL><V>. This "pastes" the words onto the page from your computer's "clipboard." Now run your spell-checking feature as you normally would and just add any words your spell checker program does not recognize, keeping in mind the cautions outlined above. The drug and product words and word-groups listed below are separated by a "pipe" character.


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5 Oxoprolinuria | Aarskog Syndrome | Aase Syndrome | Ablepharon Macrostomia Syndrome | Acanthocheilonemiasis | Acanthocytosis; Acanthosis Nigricans | Achalasia | Achard Thiers Syndrome | Achondrogenesis | Achondroplasia | Acidemia, Isovaleric | Acidemia, Methylmalonic | Acidemia, Propionic | Acne Rosacea | Acoustic Neuroma | Acrocallosal Syndrome, Schinzel Type | Acrodermatitis Enteropathica; Acrodysostosis | Acromegaly | Acromesomelic Dysplasia | Acromicric Dysplasia | ACTH Deficiency | Adams Oliver Syndrome | Addison's Disease | Adenoid Cystic Carcinoma | Adie Syndrome | Adrenal Hyperplasia, Congenital (General) | Adrenoleukodystrophy | Afibrinogenemia, Congenital | Agammaglobulinemias, Primary | Agenesis of Corpus Callosum | Agnosia, Primary Visual | Agranulocytosis, Acquired; Ahumada Del Castillo Syndrome | Aicardi Syndrome | AIDS (Acquired Immune Deficiency Syndrome) | AIDS Dysmorphic Syndrome | Alagille Syndrome | Albinism | Alexander's Disease | Alkaptonuria | Allan Herndon Syndrome | Alopecia Areata | Alpers Disease | Alpha, 1, Antitrypsin Deficiency | Alport Syndrome | Alstrom Syndrome | Alternating Hemiplegia of Childhood | Alveolitis, Extrinsic Allergic; Alveolitis, Fibrosing | Alzheimer's Disease | Ameloblastoma | Amelogenesis Imperfecta | Amenorrhea, Primary | Amniotic Bands | Amyloidosis; Amyotrophic Lateral Sclerosis | Anaphylaxis | Andersen Disease | Anemia, Aplastic | Anemia, Blackfan Diamond | Anemia, Fanconi's; Anemia, Hemolytic, Acquired Autoimmune | Anemia, Hemolytic, Cold Antibody | Anemia, Hemolytic, Warm Antibody | Anemia, Hereditary Nonspherocytic Hemolytic | Anemia, Hereditary Spherocytic Hemolytic | Anemia, Megaloblastic | Anemia, Pernicious | Anemia, Sideroblastic; Anencephaly | Angelman Syndrome | Angioedema, Hereditary | Aniridia | Aniridia Cerebellar Ataxia Mental Deficiency | Ankylosing Spondylitis | Anodontia | Anorexia Nervosa | Antiphospholipid Syndrome | Antisocial Personality Disorder | Antithrombin III Deficiency; Antley Bixler Syndrome | APECED Syndrome | Apert Syndrome | Aplasia Cutis Congenita | Apnea, Infantile | Apnea, Sleep | Apraxia; Apraxia, Ocular Motor, Cogan Type | Arachnoid Cysts | Arachnoiditis | Arginase Deficiency | Arginino Succinic Aciduria | Arnold Chiari Syndrome | Arteriovenous Malformation | Arteritis, Giant Cell | Arteritis, Takayasu | Arthritis, Infectious | Arthritis, Juvenile | Arthritis, Psoriatic | Arthrogryposis Multiplex Congenita | Asherman's Syndrome | Aspartylglycosaminuria | Asperger's Syndrome | Aspergillosis | Astrocytoma, Benign | Astrocytoma, Malignant | Ataxia Telangiectasia | Ataxia, Friedreich's | Ataxia, Hereditary | Ataxia, Marie's | Atrial Septal Defects | Atrioventricular Septal Defect | Attention Deficit Hyperactivity Disorder; Autism | Babesiosis | Balantidiasis | Baller Gerold Syndrome | Balo Disease | Bannayan Riley Ruvalcaba Syndrome | Banti's Syndrome | Bardet Biedl Syndrome | Barrett Esophagus | Bartonellosis | Bartter's Syndrome | Batten Disease | Beals Syndrome | Beckwith Wiedemann Syndrome | Behcet's Syndrome | Bejel | Bell's Palsy | Benign Essential Tremor | Bernard Soulier Syndrome | Berylliosis; Biliary Atresia, Extrahepatic | Binswanger's Disease | Bjornstad Syndrome | Blastomycosis | Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome | Blepharospasm, Benign Essential | Bloom Syndrome | Blue Diaper Syndrome | Blue Rubber Bleb Nevus | Borjeson Syndrome | Botulism | Bowen Hutterite Syndrome | Bowen's Disease | Bowenoid Papulosis | Brain Tumors, General | Branchio Oculo Facial Syndrome | Branchio Oto Renal Syndrome | Broad Beta Disease | Bronchopulmonary Dysplasia (BPD) | Brown Sequard Syndrome | Brown Syndrome | Brucellosis | Bubonic Plague | Budd Chiari Syndrome | Buerger's Disease | Bulimia | Bullous Pemphigoid | Burning Mouth Syndrome | C Syndrome | Camptomelic Syndrome | Cancer, Colon | Cancer, Prostate | Cancers, Skin, General | Candidiasis | Carbamyl Phosphate Synthetase Deficiency | Carbohydrate deficient Glycoprotein Syndrome Type Ia | Carboxylase Deficiency, Multiple | Carcinoid Syndrome | Carcinoma, Renal Cell | Carcinoma, Squamous Cell | Cardio Auditory Syndrome | Cardiofaciocutaneous Syndrome | Carnitine Deficiency Syndromes | Carnitine Palmitoyltransferase Deficiency | Carnosinemia | Caroli Disease | Carpal Tunnel Syndrome | Carpenter Syndrome | Castleman's Disease | Cat Eye Syndrome | Cat Scratch Disease | Cataract Dental Syndrome | Cataracts | Catel Manzke Syndrome; Caudal Regression Syndrome | Cavernous Hemangioma | Cayler Syndrome | Celiac Sprue | Central Core Disease | Central Hypoventilation Syndrome, Congenital | Cerebellar Agenesis | Cerebellar Degeneration, Subacute | Cerebral Palsy | Cerebro Oculo Facio Skeletal Syndrome | Cerebrocostomandibular Syndrome | Chagas Disease | Chalazion | Chandler's Syndrome | Charcot Marie Tooth Disease | CHARGE Association | Chediak Higashi Syndrome | Chiari Frommel Syndrome | Chikungunya | Chlamydia | Cholangitis, Primary Sclerosing | Cholecystitis; Cholera | Cholestasis | Chondrocalcinosis, Familial Articular | Chorea, Sydenham's | Choroideremia | Choroiditis, Serpiginous; Chromosome 10, Distal Trisomy 10q | Chromosome 10, Monosomy 10p | Chromosome 11, Partial Monosomy 11q | Chromosome 11, Partial Trisomy 11q | Chromosome 13, Partial Monosomy 13q | Chromosome 14 Ring | Chromosome 14, Trisomy Mosaic | Chromosome 15 Ring | Chromosome 15, Distal Trisomy 15q | Chromosome 18, Monosomy 18p | Chromosome 18, Ring | Chromosome 18, Tetrasomy 18p | Chromosome 18q, Syndrome; Chromosome 21 Ring | Chromosome 22 Ring | Chromosome 22, Trisomy Mosaic | Chromosome 3, Monosomy 3p2 | Chromosome 3, Trisomy 3q2; Chromosome 4 Ring | Chromosome 4, Monosomy 4q | Chromosome 4, Monosomy Distal 4q | Chromosome 4, Partial Trisomy Distal 4q | Chromosome 4, Trisomy 4p | Chromosome 5, Trisomy 5p | Chromosome 6 Ring | Chromosome 6, Partial Trisomy 6q | Chromosome 7, Monosomy 7p2; Chromosome 8, Monosomy 8p2 | Chromosome 9 Ring | Chromosome 9, Partial Monosomy 9p | Chromosome 9, Tetrasomy 9p | Chromosome 9, Trisomy 9p (Multiple Variants) | Chromosome 9, Trisomy Mosaic | Chronic Fatigue Syndrome | Chronic Inflammatory Demyelinating Polyneuropathy | Churg Strauss Syndrome | Ciguatera Fish Poisoning | Cirrhosis, Primary Biliary | Citrullinemia | Cleft Palate and Cleft Lip | Cleidocranial Dysplasia | Clubfoot | Coats' Disease | Cochin Jewish Disorder | Cockayne Syndrome | Coffin Lowry Syndrome | Coffin Siris Syndrome | Cogan Reese Syndrome | Cohen Syndrome | Colitis, Collagenous | Colitis, Ulcerative | Colorado Tick Fever | Common Variable Immunodeficiency | Condyloma | Cone Dystrophy | Congenital Varicella Syndrome | Conjunctivitis, Ligneous; Conn Syndrome | Conradi Hunermann Syndrome | Conversion Disorder | Cor Triatriatum | Corneal Dystrophy | Cornelia de Lange Syndrome; Corticobasal Degeneration | Costello Syndrome | Cowpox | Craniofrontonasal Dysplasia | Craniometaphyseal Dysplasia | Craniosynostosis, Primary | Creutzfeldt Jakob Disease | Cri du Chat Syndrome | Crigler Najjar Syndrome Type I | Crohn's Disease | Cronkhite Canada Disease | Crouzon Disease | Cryoglobulinemia, Essential Mixed | Cryptococcosis | Cushing Syndrome | Cutis Laxa | Cutis Marmorata Telangiectatica Congenita | Cyclic Vomiting Syndrome | Cystic Fibrosis | Cystic Hygroma | Cysticercosis | Cystinosis | Cystinuria; Cytochrome C Oxidase Deficiency | Cytomegalovirus Infection | Dandy Walker Malformation | Darier Disease | De Barsy Syndrome; De Santis Cacchione Syndrome | Degos Disease | Dejerine Sottas Disease | Dengue Fever | Dentin Dysplasia, Coronal | Dentin Dysplasia, Radicular | Dentinogenesis Imperfecta Type III | Depersonalization Disorder | Dercum Disease | Dermatitis, Atopic | Dermatitis, Contact | Dermatomyositis | Devic Disease | Dextrocardia with Situs Inversus | Diabetes Insipidus | Diabetes, Insulin Dependent; Diastrophic Dysplasia | Diencephalic Syndrome | DiGeorge Syndrome | Dilatation of the Pulmonary Artery, Idiopathic | Diverticulitis; Diverticulosis | DOOR Syndrome | Down Syndrome | Dracunculosis | Drash Syndrome | Duane Syndrome | Dubin Johnson Syndrome | Dubowitz Syndrome | Duhring Disease | Duodenal Atresia or Stenosis | Dupuytren's Contracture | Dyggve Melchior Clausen Syndrome | Dysautonomia, Familial | Dyschondrosteosis | Dyskeratosis Congenita | Dyslexia | Dysphonia, Chronic Spasmodic | Dysplasia, Epiphysealis Hemimelica; Dysplasia, Fibrous | Dysplastic Nevus Syndrome | Dysthymia | Dystonia | Dystrophy, Asphyxiating Thoracic | Dystrophy, Myotonic; Eales Disease | Ear, Patella, Short Stature Syndrome | Eaton Lambert Syndrome | Ectodermal Dysplasias | Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate | Edema, Idiopathic | Ehlers Danlos Syndrome | Eisenmenger Syndrome | Elephantiasis | Ellis Van Creveld Syndrome | Emphysema, Congenital Lobar | Empty Sella Syndrome | Encephalitis, Herpetic | Encephalitis, Japanese | Encephalitis, Rasmussen's | Encephalocele | Encephalomyelitis, Myalgic | Endocardial Fibroelastosis (EFE) | Endocarditis, Infective | Endometriosis; Endomyocardial Fibrosis | Engelmann Disease | Enterobiasis | Eosinophilia Myalgia | Eosinophilic Fasciitis | Epidermal Nevus Syndrome; Epidermolysis Bullosa | Epidermolytic Hyperkeratosis | Epididymitis | Epilepsy | Epilepsy, Myoclonic Progressive Familial | Epitheliopathy, Acute Posterior Multifocal Placoid Pigment | Erb's Palsy | Erdheim Chester Disease | Erysipelas | Erythema Multiforme | Erythrokeratodermia with Ataxia | Erythromelalgia | Erythropoietic Protoporphyria (EPP) | Esophageal Atresia and/or Tracheoesophageal Fistula | Essential Iris Atrophy | Exostoses, Multiple | Exstrophy of the Bladder | Fabry Disease | Facioscapulohumeral Muscular Dystrophy | Factor IX Deficiency | Factor XIII Deficiency | Fahr's Disease | Fairbank Disease | Farber's Disease | Fascioliasis | Felty Syndrome | Femoral Facial Syndrome | Fetal Alcohol Syndrome | Fetal Hydantoin Syndrome | Fetal Valproate Syndrome | FG Syndrome | Fiber Type Disproportion, Congenital | Fibrodysplasia Ossificans Progressiva (FOP) | Fibromatosis, Congenital Generalized | Fibromyalgia | Filariasis | Filippi Syndrome | Fitz Hugh Curtis Syndrome | Floating Harbor Syndrome | Focal Dermal Hypoplasia | Forbes Albright Syndrome | Forbes Disease; Forestier's Disease | Formaldehyde Poisoning | Fountain Syndrome | Fox Fordyce Disease | Fragile X Syndrome | Fraser Syndrome; Freeman Sheldon Syndrome | Frey's Syndrome | Froelich's Syndrome | Frontofacionasal Dysplasia | Frontonasal Dysplasia | Fructose Intolerance, Hereditary | Fructosuria | Fryns Syndrome | Fucosidosis | Galactosemia | Galloway Mowat Syndrome | Gardner Syndrome; Gastritis, Chronic, Erosive | Gastritis, Giant Hypertrophic | Gastroenteritis, Eosinophilic | Gastroesophageal Reflux | Gastroschisis; Gaucher Disease | Gerstmann Syndrome | Gianotti Crosti Syndrome | Giardiasis | Gilbert Syndrome | Glioblastoma Multiforme | Glucose Galactose Malabsorption | Glucose, 6, Phosphate Dehydrogenase Deficiency | Glutaricaciduria I | Glutaricaciduria II | Glycogen Storage Disease VIII | Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum) | Goodman Syndrome | Goodpasture Syndrome | Gordon Syndrome | Gorham's Disease | Gorlin Chaudhry Moss Syndrome | Gottron's Syndrome | Gouty Nephropathy, Familial | Graft versus Host Disease | Granuloma Annulare | Granulomatosis, Lymphomatoid | Granulomatous Disease, Chronic | Graves' Disease | Greig Cephalopolysyndactyly Syndrome | Grover's Disease | Growth Delay, Constitutional | Growth Hormone Deficiency | Guillain Barre Syndrome | Hageman Factor Deficiency | Hajdu Cheney Syndrome | Hallermann Streiff syndrome | Hallervorden Spatz Disease | Hand Foot Mouth Syndrome | Hanhart Syndrome | Hantavirus Pulmonary Syndrome | Hartnup Disease | Hashimoto's Syndrome | Hay Well's Syndrome | Headache, Cluster | Heart Block, Congenital | Heavy Metal Poisoning | Hemangioma Thrombocytopenia Syndrome | Hematuria, Benign, Familial | Hemochromatosis, Hereditary | Hemoglobinuria, Paroxysmal Cold | Hemoglobinuria, Paroxysmal Nocturnal | Hemolytic Uremic Syndrome | Hemophilia; Hemorrhagic Telangiectasia, Hereditary | Hepatic Fibrosis, Congenital | Hepatitis B | Hepatitis C | Hepatitis, Neonatal | Hepatorenal Syndrome | Hermansky Pudlak Syndrome | Hermaphroditism, True | Herpes, Neonatal | Hers Disease | Hiccups, Chronic | Hidradenitis Suppurativa | Hirschsprung's Disease | Histidinemia | Histiocytosis X | Hodgkin's Disease | Holoprosencephaly | Holt Oram Syndrome; Homocystinuria | Horner's Syndrome | Human Granulocytic Ehrlichiosis (HGE) | Human Monocytic Ehrlichiosis (HME) | Hunter Syndrome; Huntington's Disease | Hurler Syndrome | Hutchinson Gilford Progeria Syndrome | Hydranencephaly | Hydrocephalus | Hyper IgM Syndrome; Hypercholesterolemia | Hyperchylomicronemia | Hyperemesis Gravidarum | Hyperemesis Gravidarum | Hyperexplexia | Hyperhidrosis, Primary | Hyperkalemia | Hyperlipoproteinemia Type IV | Hyperostosis Frontalis Interna | Hyperoxaluria, Primary (Type I) | Hyperprolinemia Type I | Hyperprolinemia Type II | Hyperthermia | Hypochondroplasia | Hypoglycemia | Hypohidrotic Ectodermal Dysplasia | Hypokalemia; Hypomelanosis of Ito | Hypoparathyroidism | Hypophosphatasia | Hypoplastic Left Heart Syndrome | Hypotension, Orthostatic | Hypothyroidism; Hypotonia, Benign Congenital | I Cell Disease | Ichthyosis | Ichthyosis Congenita | Ichthyosis Hystrix, Curth Macklin Type | Ichthyosis Vulgaris | Ichthyosis, Chanarin Dorfman Syndrome | Ichthyosis, CHILD Syndrome | Ichthyosis, Erythrokeratodermia Progressiva Symmetrica; Ichthyosis, Erythrokeratodermia Variabilis | Ichthyosis, Erythrokeratolysis Hiemalis | Ichthyosis, Harlequin Type | Ichthyosis, Keratosis Follicularis Spinulosa Decalvans | Ichthyosis, Lamellar Recessive | Ichthyosis, Netherton Syndrome | Ichthyosis, Sjögren Larsson Syndrome | Ichthyosis, Tay Syndrome | Ichthyosis, X Linked | IgA Nephropathy | Imperforate Anus | Incontinentia Pigmenti; Interstitial Cystitis | Intestinal Pseudoobstruction | Irritable Bowel Syndrome | Isaacs' Syndrome | Ivemark Syndrome | Jackson Weiss Syndrome | Jansen Type Metaphyseal Chondrodysplasia | Jarcho Levin Syndrome | Jejunal Atresia | Job Syndrome | Johanson Blizzard Syndrome | Joseph's Disease | Joubert Syndrome | Juberg Marsidi Syndrome | Jumping Frenchmen of Maine | Kabuki Make, up Syndrome; Kallmann Syndrome | Kartagener Syndrome | Kawasaki Disease | KBG Syndrome | Kearns Sayre Syndrome (KSS) | Kennedy Disease | Kenny Caffe Syndrome | Keratitis Ichthyosis Deafness Syndrome | Keratoconjunctivitis, Vernal | Keratoconus | Keratomalacia | Keratosis, Seborrheic | Kernicterus | Kienbock Disease | Kikuchi's Disease | Kinsbourne Syndrome | Kleine Levin Syndrome | Klinefelter Syndrome; Klippel Feil Syndrome | Klippel Trenaunay Syndrome | Kluver Bucy Syndrome | Kniest Syndrome | Kohler Disease | Korsakoff's Syndrome; Kufs Disease | Kugelberg Welander Syndrome | Laband Syndrome | Lactose Intolerance | LADD Syndrome | Landau Kleffner Syndrome; Laron Dwarfism | Larsen Syndrome | Laurence Moon Syndrome | Leber's Congenital Amaurosis | Leber's Optic Atrophy | Legg Calve Perthes Disease | Legionnaire's Disease | Leigh's Disease | Leiner Disease | Lennox Gastaut Syndrome | Lenz Microphthalmia Syndrome | LEOPARD Syndrome | Leprechaunism | Leprosy | Leptospirosis | Leri Pleonosteosis | Lesch Nyhan Syndrome | Leukemia, Chronic Lymphocytic; Leukemia, Chronic Myelogenous | Leukemia, Hairy Cell | Leukodystrophy | Leukodystrophy, Canavan's | Leukodystrophy, Krabbe's; Leukodystrophy, Metachromatic | Lichen Planus | Lichen Sclerosus | Lipodystrophy | Lissencephaly | Listeriosis | Locked In Syndrome; Loken Senior Syndrome | Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) | Lowe Syndrome | Lupus | Lyelles Syndrome | Lyme Disease; Lymphadenopathy, Angioimmunoblastic with Dysproteinemia | Lymphangioleiomyomatosis | Lymphangioma, Cavernous | Lymphedema, Hereditary; Lymphocytic Infiltrate of Jessner | Lymphoma, Gastric, Non Hodgkins Type | Lynch Syndromes | Macroglossia | Macular Degeneration; Macular Degeneration, Polymorphic | Madelung's Disease | Maffucci Syndrome | Malaria | Malignant Hyperthermia | Mallory Weiss Syndrome; Manic Depression, Bipolar | Mannosidosis | Maple Syrup Urine Disease | Marcus Gunn Phenomenon | Marden Walker Syndrome | Marfan Syndrome | Marinesco Sjögren Syndrome | Maroteaux Lamy Syndrome | Marshall Smith Syndrome | Marshall Syndrome | MASA Syndrome; Mastocytosis | Maxillofacial Dysostosis | Maxillonasal Dysplasia, Binder Type | May Hegglin Anomaly | McArdle Disease | McCune Albright Syndrome | McKusick Type Metaphyseal Chondrodysplasia | Measles | Meckel Syndrome | Mediterranean Fever, Familial | Medium Chain Acyl CoA Dehydrogenase Deficiency | Medullary Cystic Disease | Medullary Sponge Kidney | Medulloblastoma | Megalocornea Mental Retardation Syndrome | Meige Syndrome | Melanoma, Malignant | MELAS Syndrome | Meleda Disease | Melkersson Rosenthal Syndrome; Melnick Needles Syndrome | Meniere Disease | Meningioma | Meningitis | Meningitis, Bacterial | Meningitis, Meningococcal | Meningitis, Tuberculous | Meningococcemia | Menkes Disease | MERRF Syndrome | Mesenteritis, Retractile | Metatropic Dysplasia I | Microvillus Inclusion Disease | Mikulicz Syndrome | Miller Syndrome | Mitral Valve Prolapse Syndrome | Mixed Connective Tissue Disease (MCTD); Moebius Syndrome | Monilethrix | Morquio Syndrome | Motor Neuron Disease | Mountain Sickness, Acute | Moyamoya Disease | Mucha Habermann Disease | Mucolipidosis IV | Mucopolysaccharidosis | Mulibrey Nanism Syndrome (Perheentupa Syndrome) | Mullerian Aplasia | Multiple Sclerosis | Multiple Sulfatase Deficiency | Mulvihill Smith Syndrome | Mumps | MURCS Association | Muscular Dystrophy, Becker; Muscular Dystrophy, Duchenne | Muscular Dystrophy, Emery Dreifuss | Muscular Dystrophy, Fukuyama Type | Muscular Dystrophy, Limb Girdle | Muscular Dystrophy, Oculo Gastrointestinal | Mutism, Selective | Myasthenia Gravis | Mycosis Fungoides | Myelitis | Myelofibrosis, Idiopathic | Myeloma, Multiple | Myhre Syndrome | Myoclonus, General | Myopathy, Congenital, Batten Turner Type | Myopathy, Desmin Storage | Myopathy, Myotubular | Myopathy, Scapuloperoneal | Myositis, Inclusion Body | Myotonia Congenita | N, Acetyl Glutamate Synthetase Deficiency | Nager Syndrome | Nail Patella Syndrome | Narcolepsy | Nelson Syndrome | Nemaline Myopathy | Neu Laxova Syndrome; Neurasthenia | Neuroacanthocytosis | Neurofibromatosis Type 1 (NF, 1) | Neurofibromatosis Type 2 (NF, 2) | Neuroleptic Malignant Syndrome | Neuropathy, Congenital Hypomyelination | Neuropathy, Giant Axonal | Neuropathy, Hereditary Sensory, Type I | Neuropathy, Hereditary Sensory, Type II | Neuropathy, Peripheral | Neutropenia, Cyclic | Neutropenia, Severe Chronic | Nevoid Basal Cell Carcinoma Syndrome | Nezelof's Syndrome | Niemann Pick Disease | Nocardiosis | Non Ketotic Hyperglycinemia | Noonan Syndrome | Norrie Syndrome; Nystagmus, Benign Paroxysmal Positional | Obsessive Compulsive Disorder | Ochoa Syndrome | Oculo Dento Digital Dysplasia | Oculocerebral Syndrome with Hypopigmentation | Oculocerebrocutaneous Syndrome | Olivopontocerebellar Atrophy | Ollier Disease | Opitz Syndrome; Opportunistic Infections | Oral Facial Digital Syndrome | Organic Mood Syndrome | Organic Personality Syndrome | Ornithine Transcarbamylase Deficiency | Orocraniodigital Syndrome | Osgood Schlatter's Disease | Osteogenesis Imperfecta | Osteomyelitis | Osteonecrosis; Osteopetrosis | Oto Palato Digital Syndrome Type I and II | Pachydermoperiostosis | Paget's Disease | Paget's Disease of the Breast; Pallister Hall Syndrome | Pallister Killian Mosaic Syndrome | Pallister W Syndrome | Pancreatic Islet Cell Tumor | Panic Anxiety Syndrome | Panniculitis, Idiopathic Nodular | Papillitis | Papillon Lefevre Syndrome | Paracoccidioidomycosis | Paramyotonia Congenita; Paraplegia, Hereditary Spastic | Parkinson's Disease | Parry Romberg Syndrome | Pars Planitis | Parsonage Turner Syndrome | Patulous Eustachian Tube | Peeling Skin Syndrome | Pelizaeus Merzbacher Brain Sclerosis | Pemphigoid, Benign Mucosal | Pemphigus | Penta X Syndrome | Pentalogy of Cantrell | PEPCK Deficiency, Mitochondrial | Perisylvian Syndrome, Congenital Bilateral | Perniosis; Pertussis | Peutz Jeghers Syndrome | Peyronie Disease | Pfeiffer Syndrome Type I | Phenylketonuria | Pheochromocytoma | Phocomelia Syndrome | Phosphoglycerate Kinase Deficiency | Pica | Pick's Disease | Pierre Robin Syndrome | Pinta | Pityriasis Rubra Pilaris; Pneumonia, Eosinophilic | Pneumonia, Interstitial | POEMS Syndrome | Poland Syndrome | Polyarteritis Nodosa | Polychondritis | Polycystic Kidney Diseases | Polycystic Liver Disease | Polycythemia Vera | Polyglucosan Body Disease, Adult | Polymyalgia Rheumatica | Polymyositis; Polyposis, Familial | Pompe Disease | Popliteal Pterygium Syndrome | Porphyria | Porphyria Cutanea Tarda | Porphyria, Acute Intermittent; Porphyria, ALA, D | Porphyria, Congenital Erythropoietic | Porphyria, Hereditary Coproporphyria | Porphyria, Variegate | Post Polio Syndrome | Posterior Uveitis | Prader Willi Syndrome | Precocious Puberty | Primary Lateral Sclerosis | Proctitis | Progressive Osseous Heteroplasia (POH) | Progressive Supranuclear Palsy | Prostatitis | Proteus Syndrome | Prune Belly Syndrome | Pseudo Hurler Polydystrophy | Pseudocholinesterase Deficiency | Pseudohypoparathyroidism | Pseudomyxoma Peritonei | Pseudotumor Cerebri | Pseudoxanthoma Elasticum (PXE) | Psittacosis | Psoriasis | Pterygium Syndrome, Multiple | Pulmonary Alveolar Proteinosis | Pulmonary Hypertension, Primary | Pulmonary Hypertension, Secondary | Pure Red Cell Aplasia, Acquired | Purpura, Henoch Schonlein | Purpura, Idiopathic Thrombocytopenic | Purpura, Thrombotic Thrombocytopenic | Pyknodysostosis | Pyoderma Gangrenosum | Pyruvate Carboxylase Deficiency; Pyruvate Dehydrogenase Deficiency | Pyruvate Kinase Deficiency | Q Fever | Rabies | Radiation Syndromes | Rapp Hodgkin Syndrome; Raynaud's Disease and Phenomenon | Recurrent Respiratory Papillomatosis | Reflex Sympathetic Dystrophy Syndrome (RSDS) | Refsum Syndrome | Reifenstein Syndrome | Reiter's Syndrome | Renal Agenesis, Bilateral | Renal Glycosuria | Respiratory Distress Syndrome, Adult | Respiratory Distress Syndrome, Infant | Restless Legs Syndrome | Retinitis Pigmentosa | Retinoblastoma | Retinopathy, Arteriosclerotic; Retinopathy, Diabetic | Retinopathy, Hypertensive | Retinoschisis | Retrolental Fibroplasia | Retroperitoneal Fibrosis | Rett Syndrome; Reye Syndrome | Rh Disease | Rheumatic Fever | Rickets, Hypophosphatemic | Rickets, Vitamin D Deficiency | Rieger Syndrome | Roberts Syndrome | Robinow Syndrome | Rocky Mountain Spotted Fever | Romano Ward Syndrome | Rosenberg Chutorian Syndrome | Roseola Infantum; Rothmund Thomson Syndrome | Roussy Levy Syndrome | Rubella | Rubella, Congenital | Rubinstein Taybi Syndrome | Russell Silver Syndrome (RSS) | Ruvalcaba Syndrome | Saethre Chotzen Syndrome | Sakati Syndrome | Sandhoff Disease | Sanfilippo Syndrome | Santavuori Disease; Sarcoidosis | Sarcoma, Ewing's | Schindler Disease | Schinzel Giedion Syndrome | Schinzel Syndrome | Schmid Type Metaphyseal Chondrodysplasia; Schmidt Syndrome | Schwartz Jampel Syndrome | Scleroderma | Scott Craniodigital Syndrome With Mental Retardation | Seckel Syndrome; Seitelberger Disease (Infantile Neuroaxonal Dystrophy) | Sennetsu Fever | Septo Optic Dysplasia | Setleis Syndrome | Severe Combined Immunodeficiency | Sheehan Syndrome | Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) | SHORT Syndrome | Shwachman Syndrome; Shy Drager Syndrome | Sialadenitis | Sialidosis | Sickle Cell Disease | Simian B Virus Infection | Simpson Dysmorphia Syndrome; Singleton Merten Syndrome | Sirenomelia Sequence | Sjögren Syndrome | Sly Syndrome | Smith Lemli Opitz Syndrome | Smith Magenis Syndrome | Sneddon Syndrome | Sotos Syndrome | Spasmodic Torticollis | Spina Bifida | Split Hand Deformity | Spondyloepiphyseal Dysplasia Tarda | Spondyloepiphyseal Dysplasia, Congenital | Sprengel Deformity | Stein Levanthal Syndrome | Stenosis, Spinal; Stevens Johnson Syndrome | Stickler Syndrome | Stiff Person Syndrome | Streptococcus, Group B | Sturge Weber Syndrome | Subacute Sclerosing Panencephalitis | Sucrose Isomaltose Malabsorption, Congenital | Sudden Infant Death Syndrome | Summitt Syndrome; Sutton's Disease II | Sweet Syndrome | Syphilis, Acquired | Syphilis, Congenital | Syringobulbia | Syringomyelia | Tangier Disease; Tardive Dyskinesia | Tarsal Tunnel Syndrome | Tarui Disease | Tay Sachs Disease | Telecanthus with Associated Abnormalities | Temporomandibular Joint Dysfunction (TMJ) | Tethered Spinal Cord Syndrome | Tetrahydrobiopterin Deficiency | Tetralogy of Fallot | Thalamic Syndrome (Dejerine Roussy) | Thalassemia Major | Thalassemia Minor | Three M Syndrome | Thrombasthenia of Glanzmann and Naegeli | Thrombocythemia, Essential | Thrombocytopenia Absent Radius Syndrome | Thrombocytopenia, Essential | Tietze Syndrome | Tinnitus | Tolosa Hunt Syndrome; Tongue Carcinoma | Tongue, Fissured | Tongue, Geographic | Tongue, Hairy | Tooth and Nail Syndrome | TORCH Syndrome | Tourette Syndrome; Townes Brocks Syndrome | Toxic Shock Syndrome | Toxocariasis | Toxoplasmosis | Treacher Collins Syndrome | Tricho Dento Osseous Syndrome | Trichorhinophalangeal Syndrome Type I | Trichorhinophalangeal Syndrome Type II | Trichorhinophalangeal Syndrome Type III | Trichotillomania | Trigeminal Neuralgia (Tic Douloureux) | Trimethylaminuria | Triplo X Syndrome | Triploid Syndrome | Trismus Pseudocamptodactyly Syndrome | Trisomy | Trisomy 13 Syndrome | Trisomy 18 Syndrome | Tropical Sprue | Truncus Arteriosus, Persistent; Tuberculosis | Tuberous Sclerosis | Turner Syndrome | Twin Twin Transfusion Syndrome | Typhoid | Tyrosinemia, Hereditary | Urticaria Pigmentosa | Urticaria, Cholinergic | Urticaria, Cold | Urticaria, Papular | Urticaria, Physical | Usher's Syndrome | VACTERL Association; Valinemia | Varicella Zoster | Vascular Malformations of the Brain | Vasculitis | Vasculitis, Cutaneous Necrotizing | Velocardiofacial Syndrome | Ventricular Septal Defects | Vitamin B12 Deficiency | Vitamin E Deficiency | Vitiligo | Vogt Koyanagi Harada Syndrome; Von Gierke Disease | Von Hippel Lindau Disease | Von Willebrand Disease | Vulvovaginitis | Waardenburg Syndrome | WAGR Syndrome; Waldenstrom's Macroglobulinemia | Waldmann Disease | Walker Warburg Syndrome | Wandering Spleen | Weaver Syndrome | Wegener's Granulomatosis; Weil Syndrome | Weill Marchesani Syndrome | Weismann Netter Stuhl Syndrome | Wells Syndrome | Werdnig Hoffman Disease | Werner Syndrome | West Syndrome | Whipple's Disease | Wieacker Syndrome | Wiedemann Rautenstrauch Syndrome | Wildervanck Syndrome | Williams Syndrome | Wilms' Tumor | Wilson's Disease | Winchester Syndrome | Wiskott Aldrich Syndrome | Wolf Hirschhorn Syndrome | Wolff Parkinson White Syndrome | Wolfram Syndrome | Wyburn Mason Syndrome | X linked Juvenile Retinoschisis | X linked Lymphoproliferative Syndrome; Xeroderma Pigmentosum | XYY Syndrome | Yaws | Yellow Fever | Yellow Nail Syndrome | Yunis Varon Syndrome | Zellweger Syndrome | Zollinger Ellison Syndrome |
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