An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (Human Disease Ontology, DOID_12712)
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Genes
18 genes involed in the disease nephronophthisis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
