nephronophthisis
MONDO:0019005Also known as: medullary cystic kidney, nephronophthisis, nephronophthisis (disease)
- MONDO:
- MONDO:0019005
- Orphanet:
- 655 ↗
Rare disease39 associated genes
Description
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
Associated genes
+29 more genes — install the extension to see the full list inline on any page.