| Document Date: 2013-10-09 08:35:53
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City Alport / / Company Budd / Wilson / Siemens / Orphanet Study / Russell / Medline / Lennox / / Continent Europe / / Country Poland / / Currency pence / / Event Business Partnership / / IndustryTerm e-medicine / long chain / medium chain / search algorithm / / MedicalCondition Nemaline myopathy / Ehlers-Danlos syndrome / Lesch-Nyhan syndrome / Lissencephaly / Omphalocele / Metachromatic leukodystrophy / Glutaryl-CoA dehydrogenase deficiency / rare diseases / Apert syndrome / Congenital adrenal hyperplasia / Pierre Robin syndrome / Beckwith-Wiedemann syndrome / Variegata porphyria / Retinoblastoma / common rare diseases / Smith-Magenis syndrome / Amaurosis / Acromegaly / Sickle cell anemia / Adult Onset Still's disease / Treacher-Collins syndrome / Multiple endocrine neoplasia / Granulomatous disease / Gastroschisis / Neuroblastoma / Diaphragmatic hernia / spinocerebellar ataxia 2 / Dermatitis herpetiformis / Juvenile arthritis / Usher syndrome / Galactosemia / Melanoma / Huntington disease / Gorlin syndrome / X-linked severe combined immunodeficiency / Nanism / Peutz-Jeghers syndrome / Polycythemia / B disease / Tuberous sclerosis / Klippel feil syndrome / Osteogenesis imperfecta / Zollinger-Ellison syndrome / Phenylketonuria / CADASIL Li-Fraumeni syndrome Silver-Russell / Idiopathic torsion dystonia / Breast cancer / Williams syndrome / Hodgkin disease / Gelineau disease / Polyarteritis nodosa / Glioblastoma / disease Disease / thalassemia-mental retardation / Homocystinuria / Gaucher disease Prader-Willi syndrome / Lipodystrophy / Creutzfeldt-Jakob disease / Cardiomyopathy / Kartagener syndrome / Darier disease / Cystinosis / Tay-Sachs disease / Nail-patella syndrome / Duane syndrome / Nephroblastoma / myotonic dystrophy / Wilson disease / Guillain-Barre syndrome / Charcot-Marie-Tooth disease / Waardenburg syndrome / rare / Neurofibromatosis / Becker disease / Agammaglobulinemia X-linked / sarcoma / Fabry disease / Alkaptonuria / Angelman syndrome / Systemic mastocytosis / Marfan syndrome / Pheochromocytoma / diseases / Lowe syndrome / dystonia / deficiency / cystathionine beta-synthase deficiency / Rendu-Osler-Weber disease / Hypercholesterolemia / antitrypsin deficiency / Angioneurotic edema / Sotos syndrome / each rare disease / BOR syndrome / hyperinsulinemic hypoglycemia / Optic atrophy / muscular dystrophy / Pseudoxanthoma elasticum / Bullous pemphigoid / Ondine syndrome Job syndrome Kearns-Sayre syndrome Xanthomatosis / Progeria / Fanconi anemia / Mucopolysaccharidosis / Krabbe disease / Wegener granulomatosis / palsy / syndrome Peters-plus syndrome Coffin-Siris syndrome Acrocallosal syndrome / XIII deficiency / Langerhans cell histiocytosis / Stickler syndrome / Friedreich ataxia / Werner syndrome / Aniridia / Albers-Schonberg disease / Familial adenomatous polyposis / Primary ciliary dyskinesia / Saethre-Chotzen syndrome / Great vessels transposition / Oculocutaneous albinism / Alopecia / Crouzon disease / Sarcoidosis / Fibrodysplasia ossificans progressiva / Holoprosencephaly / Joubert-Boltshauser syndrome / Cornelia de Lange syndrome / Cowden syndrome / X syndrome / Glycogen storage disease / Von Hippel-Lindau disease / Tyrosinemia / Zellweger syndrome / Xeroderma pigmentosum / Rubinstein-Taybi syndrome / Albinism / Achondroplasia / Cat-eye syndrome / Fructose intolerance / Bardet-Biedl syndrome / Cystic fibrosis / Primary biliary cirrhosis / eye brain disease / Porphyria / Holt-Oram syndrome / Hemophilia / Myasthenia gravis / Rett syndrome / Turner syndrome / Ataxia / Kennedy disease / Sclerosing cholangitis / Brugada syndrome / spinal muscular atrophy / periodic paralysis / disease / Scleroderma / Spastic paraplegia / Multiple endocrine neoplasia type 1 / Menkes syndrome / rare disease / Polycystic kidney disease / Autism / Focal dystonia / Jeune syndrome / Neuroendocrine tumor / Leigh disease / lateral sclerosis / Hyperlipidemia / Ellis Van Creveld syndrome / Ebstein anomaly / C disease / Schinzel-Giedion midface retraction syndrome / Pfeiffer syndrome / Hirschsprung disease / Adrenoleukodystrophy / Coffin-Lowry syndrome / Alzheimer disease / MELAS syndrome / Goldenhar syndrome / Macrophagic myofasciitis Capillary leak syndrome Waardenburg-Shah / Tetralogy of Fallot / Mucolipidosis / Emery-Dreifuss muscular dystrophy / Chondrodysplasia punctata / Retinitis / Dermatomyositis / Anemia / syndrome / Behcet disease / Cataract / Polymyositis / / Organization CHARGE association / VATER association / MURCS association / / Person Ellis Van Creveld / Cornelia de Lange / / Position Usher / / Technology search algorithm / Alpha / consulted using the search algorithm / /
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Klippel trenaunay weber syndrome Whipple disease Incontinentia pigmenti Aicardi syndrome CADASIL Li-Fraumeni syndrome