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  1. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... et al 2009 ]. Establishing the Diagnosis of the Nephronophthisis Phenotype The diagnosis of nephronophthisis phenotype is based on the following ... In this GeneReview Summary Clinical Description of the Nephronophthisis ... the Diagnosis of the Nephronophthisis Phenotype Genetic Causes of the ...
  2. Nephronophthisis: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/nephronophthisis
    ... which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, ...
  4. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... NPHP1 gene mutations develop the additional signs and symptoms of Senior-Løken syndrome or Joubert syndrome. Other Names for This Gene JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 ...
  5. Joubert syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/joubert-syndrome
    ... eye), kidney disease (including polycystic kidney disease and ... once characterized several separate disorders. Together, those disorders ...
  6. Polycystic Kidney Disease, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... include a number of disorders already mentioned: juvenile nephronophthisis and multisystem ... Following Initial Diagnosis To establish the extent of disease and needs ...
  7. Kidney Cysts 
    https://medlineplus.gov/kidneycysts.html
    Polycystic kidney disease (PKD) are kidney cysts that enlarge kidneys and make them work poorly, leading to kidney failure. Learn about PKD symptoms ... A cyst ...
  8. Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK53700
    ... Zivná et al 2009 ] Note: (1) The term "nephronophthisis/medullary cystic kidney disease (NPH/MCKD) complex" was ... hereditary chronic tubulointerstitial disease [ Hildebrandt et al 1992 ]. Nephronophthisis is now used to refer to a group ...
  9. Senior-Løken syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome
    ... of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis . Nephronophthisis causes fluid-filled cysts to develop in the ...
  10. Genetic Conditions: N 
    https://medlineplus.gov/genetics/condition-n
    ... Nephrolithiasis, see Kidney stones Nephroma, see Wilms tumor Nephronophthisis Nephropathy, Wilms tumor, and genital anomalies, see Denys- ... Chordoma NPD, see Niemann-Pick disease NPH, see Nephronophthisis NPHP, see Nephronophthisis NS, see Noonan syndrome NS, ...
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