GENETICS

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Author:
cherubicsiren
ID:
157884
Filename:
GENETICS
Updated:
2012-06-08 20:41:38
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GENETICS
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Description:
GENETICS
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  1. Name the Autosomal Dominant diseases
    • Achondroplasia
    • ADPKD
    • Familial Adenomatous Polyposis
    • Familial Hypercholesterolemia
    • Osler-Weber-Rendu Syndrome
    • Hereditary Spherocytosis
    • Huntington's Disease
    • Marfan's Syndrome
    • MEN Syndromes
    • Neurofibromatosis 1 and 2
    • Tuberous Sclerosis
    • von Hippel-Lindau Disease
  2. Name the autosomal recessive diseases
    • Albinism
    • ARPKD (infantile polycystic kidney disease)
    • Cystic Fibrosis
    • Glycogen Storage Diseases
    • -von Gierke's Disease
    • -Pompe's Disease
    • -Cori's Disease
    • -McArdles Disease
    • Hemochromatosis
    • Lysosomal Storage Diseases - Sphingolipidoses
    • - Gaucher's Disease
    • - Niemann-Pick Disease
    • - Tay-Sachs
    • - Krabbe's Disease
    • - Metachromatic Leukodystrophy
    • Lysosomal Storage Diseases - Mucopolysaccharidosis
    • -Hurler's Syndrome
    • Phenylketonuria
    • Sickle Cell
    • Thalassemias
  3. Name the X-linked Recessive Disorder
    • Bruton's Agammaglobulinemia
    • Wiskott-Aldrich Syndrome
    • Fabry's Disease
    • G6PD deficiency
    • Ocular Albinism
    • Lesch-Nyhan Syndrome
    • Muscular Dystrophies
    • Hunter's Syndrome
    • Hemophilia A and B

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