Term Name: | nephronophthisis |
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Synonyms: | medullary cystic disease, medullary cystic kidney |
Definition: | A kidney 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). |
Ontology: | Human Disease [DOID:12712] ( DOID:12712 ) |