List of Autosomal Recessive Diseases - USMLE Forums
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  #1  
Old 12-16-2011
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List List of Autosomal Recessive Diseases

Hey guys i was looking for lists of inherited diseases and i was able to find a list for X Linked Dominant Diseases , a list for List of X linked Recessive disorders, and a list for List of Autosomal Dominant Diseases . but i couldn't find a list for Autosomal Recessive Diseases so i wrote one here. sorry if there is already one but couldn't find it :
  • Abetalipoproteinemia.
  • Acute fatty liver of pregnancy.
  • Alkaptonuria.
  • Bernard-Soulier syndrome.
  • Bloom syndrome.
  • Carpenter syndrome.
  • Chediak-Higashi syndrome.
  • Chondrodystrophy.
  • CAH.
  • Congenital hepatic fibrosis.
  • Cystic Fibrosis.
  • Cystinosis, Cystinuria.
  • Dubin-Johnson syndrome.
  • Endocardial Fibroelastosis.
  • Familial Mediterranean Fever.
  • Fanconi Anemia.
  • Friedrech's Ataxia.
  • Gastroschisis.
  • Gaucher's disease.
  • Glanzman's Thromasthenia.
  • Glycogen storage diseases.
  • Hartnup Disease.
  • Krabbe Disease.
  • Leukocyte Adhesion Defect.
  • Nieman Pick Disease.
  • Rotor syndrome.
  • Shwaman Diamond syndrome.
  • Situs Inversus.
  • Sickle cell Disease and Trait.
  • Tay-Sachs.
  • Thalasemia.
  • Werner syndrome.
  • Wilson's Disease.
  • Xeroderma pigmentosa.

I guess that those are the most commonly tested on USMLE exams.
you can add something to the list if it is missing.
Best Regards.
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  #2  
Old 09-17-2012
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Default Thanks to sam 88

Thank you for the list of autosomal recessive disorders
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  #3  
Old 02-18-2013
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thanx buddy
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Old 04-10-2013
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we need a good mnemonic the list is pretty long lol
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Old 04-10-2013
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severe combined immuno deficiency (SCID) because of the inability to convert adenine to guanine
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Old 04-26-2013
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Polycystic Kidney disease (affecting children)
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