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nephronophthisis
Summary
- Synonym
-
- 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).
- Super Class
- autosomal recessive disease kidney disease
Related Genes
