BIOCHEM AND MEDICAL GENETICS(things must rmb)a small card consisting of this few things

1. Xeroderma Pigmentosum
2. HNPCC lynch syndrome
3. cytosine deamination
4. Cystic fibrosis  
5. ALpha thalasemia(large segment deletion)
6. Cri-du chat(large segment deletion)
7. Sickle cell disease
8. beta-thalasemia
9. hungtinton disease
10. myotonic dystrophy(duchene and beacker)
11. fragile x syndrome
12. freidrech ataxia(9,10,11,12)=triple repeat expansion
13. I-cell disease
14. tay-sachs
15. niemann pick
16. gaucher
17. fabry
18. angemann syndrome
19. prader-willi syndrome
20. zellweger syndrome
21. klein waardenburg syndrome
22. SHH gene(holoprosecncephaly)
23. Ehlers danlos syndrome
24. menkes disease
25. osteogenic imperfecta
26. scurvy
27. alpha 1 antitrypsin deficiency
28. SCID
29. severe hyperammonemia
30. hemoglibulinopathy
31. kwashiorkor disease
32. marasmus
33. beri-beri
34. abnormal g preotein and disease
35. li-fraumeni syndrome
36. retinoblastoma
37. pyruvate kinase deficiency
38. aldolase reductase deficiency(cataract)
39. galactose 1 uridyltransferase deficiency= classic galactosemia
40. aldolase B deficiency= hereditary fructose intolerance
41. essential fructosuria- fructokinase
42. Thiamine deficiency- wernicke -korsakoff syndrome
43. glycogen storage disease- von gierke,pompe,cori,anderson,mcardle,hers
44. acetaldehyde dehydrogenase deficient
45. glucose 6 phosphate dehydrogenase deficiency
46. HPGRT deficiency(lesch-nylan syndrome)
47. PPRP amidotransferase
48. Maple syrup urine disease
49. alkaptonuria
50. homocystinuria
51. PKU
52. albinism
53. OTC deficiency-orotic aciduria
54. carbomylate synthethase 1,2 deficiency
55. orotic acidemia(PRPP)
56. MCAT deficiency
57. myopathy CAT/CPT deficiency
58. acute intermittent porphyria
59. porphyria cutanea tarda
60. lead poisoning
61. increase in direct bilirubin(DR are direct)--DUbin johson and rotor syndrome
62. increase in indirect bilirubin (INterest Can Grow)--crigler najjar and gilbert syndrome\
63. deficiency of folate,vit b12
64. hartnup disease
65. neural tube defect
66. hypercholesterolemia
67. klinefelter syndrome
68. turner syndrome
69. down syndrome
70. patau syndrome
71. edward ysndrome
72. neurofibromatosis
73. marfan syndrome
74. hereditary hemorhagic teleangictasia(osler weber rendu syndrome)
75. hemophilia A and B
76. wiskott aldrich syndrome