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autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).
Mondo Term and Equivalent IDs
MONDO:0008264:  autosomal dominant medullary cystic kidney disease with or without hyperuricemia
EFO:0008617: 
GARD:0010801: 
MEDGEN:358137: 
MEDGEN:881357: 
MESH:C536137: 
Orphanet:34149: 
SCTID:444699000: 
UMLS:C4054549: 
UMLS:C4511620: 
UMLS:CN204412: 
UMLS:CN536252: