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medullary cystic kidney disease 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.
Uniprot Description A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade.
Mondo Term and Equivalent IDs
MONDO:0011379:  medullary cystic kidney disease 2
EFO:0008618: 
NCIT:C123172: 
SCTID:445503007: 
UMLS:C4054550: