" /> Autosomal Recessive Polycystic Kidney Disease - CISMeF





Preferred Label : Autosomal Recessive Polycystic Kidney Disease;

NCIt synonyms : Autosomal Recessive Polycystic Kidney;

NCIt related terms : Polycystic Kidney Disease, Infantile Type;

NCIt definition : Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6.;

Alternative definition : NICHD: Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease.;

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29/07/2025


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