Ziua Internațională a Bolilor Rare

BOLI RARE

1. AC – trisomie 21 (sindrom Down0)

2. AC – trisomie 13 (sindrom Patau)

3. AC – trisomie 18 (sindrom Edwards)

4. AC – anomalii ale cromozomului X

5. AC – anomalii ale cromozomului Y

6. AC – sindrom Lejeune (cri du chat)

7. AC – sindrom Wolf Hirschhorn

8. AC – sindrom Prader Willi

9. AC – sindrom Angelman

10. AC – sindrom Williams

11. AC – sindrom Rubinstein Taybi

12. AC – sindrom DiGeorge – velocardiofacial

13. AC – retinoblastom

14. AC – nefroblastom

15. AC – sindrom Beckwith Wiedemann

16. AC – alteanomalii cromozomiale

17. G – osteogeneza imperfecta

18. G – boala Pompe

19. G – boalaGaucher

20. G – boalaFabry

21. G – tirozinemie

22. G – mucopolizaharidoza tip II (sindromul Hunter)

23. G – mucopolizaharidoza tip I (sindromul Hurler)

24. G – afibrinogenemie congenitala

25. G – sindrom de imunodeficienta primara

26. G – epidermoliza buloasa

27. G – fenilcetonuriesau deficit de tetrahidrobiopterina (BH4)

28. G – sclerozatuberoasa

29. G – sclerozalateralaamiotrofica

30. G-mucoviscidoza

31. G – distrofie musculara Duchenne si Becker

32. G – angioedemereditar

33. G – neuropatie optica ereditara Leber

34. G – thalassemia

35. G – boala Wilson

36. G – sindromMarfan

37. G – hemofilie

38. G – sindrom Niemann Pick

39. G – sindromRett

40. G – sindrom Noonan-rasopatie

41. G – neurofibromatoza

42. G – boala Huntington

43. G – alte boli genetice