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familial juvenile hyperuricemic nephropathy type 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
Uniprot Description A renal disease characterized by juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis.
Mondo Term and Equivalent IDs
MONDO:0008073:  familial juvenile hyperuricemic nephropathy type 1
GARD:0006806: 
UMLS:CN239214: