Monday, 23 June 2014

Specific Genetic Disorders

Specific Genetic Disorders list


  1. Achondroplasia
  2. Alpha-1 Antitrypsin Deficiency
  3. Antiphospholipid Syndrome
  4. Autism
  5. Autosomal Dominant Polycystic Kidney Disease
  6. Breast cancer check
  7. Charcot-Marie-Tooth
  8. Colon cancer
  9. Cri du chat
  10. Crohn's Disease
  11. Cystic fibrosis
  12. Dercum Disease
  13. Specific Genetic Disorders
  14. Down Syndrome
  15. Duane Syndrome
  16. Duchenne Muscular Dystrophy
  17. Factor V Leiden Thrombophilia
  18. Familial Hypercholesterolemia
  19. Familial Mediterranean Fever
  20. Fragile X Syndrome
  21. Gaucher Disease
  22. Hemochromatosis
  23. Hemophilia
  24. Holoprosencephaly
  25. Huntington's disease
  26. Klinefelter syndrome
  27. Marfan syndrome
  28. Myotonic Dystrophy
  29. Neurofibromatosis
  30. Noonan Syndrome
  31. Osteogenesis imperfecta
  32. Parkinson's disease
  33. Phenylketonuria
  34. Poland Anomaly
  35. Porphyria
  36. Progeria
  37. Prostate Cancer
  38. Retinitis Pigmentosa
  39. Severe Combined Immunodeficiency (SCID)
  40. Sickle cell disease
  41. Skin Cancer
  42. Spinal Muscular Atrophy
  43. Tay-Sachs
  44. Thalassemia
  45. Trimethylaminuria
  46. Turner Syndrome
  47. Velocardiofacial Syndrome
  48. WAGR Syndrome
  49. Wilson Disease
source:
http://www.genome.gov/10001204
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