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familial juvenile hyperuricemic nephropathy type 2

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).
Uniprot Description A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia.
Mondo Term and Equivalent IDs
MONDO:0013128:  familial juvenile hyperuricemic nephropathy type 2
MESH:C567760: 
Orphanet:217330: 
SCTID:721840000: