Genetic Disorders – Diseases
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Aarskog Syndrome1
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Alagille Syndrome1
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Allan-Herndon-Dudley Syndrome1
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Alport Syndrome1
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Angelman Syndrome1
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Apert Syndrome1
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Bannayan-Riley-Ruvalcaba Syndrome1
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Bardet-Biedl Syndrome1
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Beckwith-Wiedemann Syndrome1
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Bloom Syndrome1
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Brugada Syndrome1
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Canavan Disease1
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Carpenter Syndrome1
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CHARGE Syndrome1
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Cockayne Syndrome1
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Cornelia de Lange Syndrome1
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Costello Syndrome1
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Cri-du-chat Syndrome1
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Crouzon Syndrome1
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DiGeorge Syndrome1
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Down Syndrome1
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Dravet Syndrome1
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Duchenne Muscular Dystrophy1
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Edwards Syndrome (Trisomy 18)1
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Fabry Disease1
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Familial Adenomatous Polyposis (Gardner Syndrome)1
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Fanconi Anemia1
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Fragile X Syndrome1
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Gaucher Disease1
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Hermansky-Pudlak Syndrome1
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Hunter Syndrome (MPS II)1
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Huntington’s Disease1
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Hurler Syndrome (MPS I)1
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Joubert Syndrome1
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Kabuki Syndrome1
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Kartagener Syndrome1
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Klinefelter Syndrome1
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Krabbe Disease1
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Leigh Syndrome1
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Lennox-Gastaut Syndrome1
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Leprechaunism (Donohue Syndrome)1
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Li-Fraumeni Syndrome1
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Lowe Syndrome1
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Lynch Syndrome1
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Marfan Syndrome1
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Meckel-Gruber Syndrome1
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Morquio Syndrome (MPS IV)1
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Mowat-Wilson Syndrome1
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Niemann-Pick Disease1
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Noonan Syndrome1
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Norrie Disease1
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Opitz Syndrome1
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Peutz-Jeghers Syndrome1
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Pfeiffer Syndrome1
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Phenylketonuria (PKU)1
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Pierre Robin Sequence1
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Pitt-Hopkins Syndrome1
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Poland Syndrome1
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Pompe Disease1
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Prader-Willi Syndrome1
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Proteus Syndrome1
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QT Long Syndrome1
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Refsum Disease1
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Rett Syndrome1
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Rett-like Syndrome (CDKL5)1
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Rubinstein-Taybi Syndrome1
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Saethre-Chotzen Syndrome1
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Sandhoff Disease1
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Seckel Syndrome1
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Sickle Cell Anemia1
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Silver-Russell Syndrome1
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Smith-Lemli-Opitz Syndrome1
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Sotos Syndrome1
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Stickler Syndrome1
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Tay-Sachs Disease1
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Timothy Syndrome1
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Trisomy 13 (Patau Syndrome)1
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Trisomy 18 (Edwards Syndrome)1
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Turner Syndrome1
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Usher Syndrome1
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Von Hippel-Lindau Syndrome1
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Waardenburg Syndrome1
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WAGR Syndrome1
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Williams Syndrome1
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Wilson Disease1
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Zellweger Syndrome1