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Results 1 - 7 of 7 for Polycystic kidney disease 7
  1. Polycystic kidney disease 
    ... Breuning M, Ravine D. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999 Jan 9;353(9147):103-7. doi: 10.1016/s0140-6736(98)03495-3. ...
    https://medlineplus.gov/genetics/condition/polycystic-kidney-disease - Genetics
  2. Joubert syndrome 
    ... a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as ... 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME 23; JBTS23 JOUBERT SYNDROME 20; ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. Oral-facial-digital syndrome 
    ... facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth ... 51. doi: 10.1016/S0072-9752(07)87018-7. No abstract available. Citation on PubMed Thauvin-Robinet ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  4. Medullary cystic kidney disease type 1 
    ... dominant interstitial kidney disease Autosomal dominant medullary cystic kidney disease Polycystic kidneys, medullary type Genetic Testing Registry: Tubulointerstitial kidney ...
    https://medlineplus.gov/.../medullary-cystic-kidney-disease-type-1 - Genetics
  5. Autosomal dominant tubulointerstitial kidney disease-UMOD 
    ... kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol. 2018 Oct 30;19(1):301. ... J Kidney Dis. 2005 Jul;46(1):52-7. doi: 10.1053/j.ajkd.2005.04.003. ...
    https://medlineplus.gov/...nt-tubulointerstitial-kidney-disease-umod - Genetics
  6. Hajdu-Cheney syndrome 
    ... syndrome. Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep ... 10.1002/ajmg.a.35772. Epub 2013 Feb 7. Erratum In: Am J Med Genet A. 2013 ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  7. Glycogen storage disease type I 
    ... glycogen storage disease. Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772. Citation ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics