hyperuricemic nephropathy, familial juvenile type 4
Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.
MONDO:0000608
familial juvenile hyperuricemic nephropathy
is_a
MONDO:0100337
SEC61A1 deficiency
is_a
ADTKD-SEC61A1
exact
HNFJ4
exact
SEC61A1 familial juvenile hyperuricemic nephropathy
exact
SEC61A1-related autosomal dominant tubulointerstitial kidney disease
exact
familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1
exact
hyperuricemic nephropathy, familial juvenile, 4
exact
hyperuricemic nephropathy, familial juvenile, type 4
exact
tubulointerstitial kidney disease, autosomal dominant, 5
exact
SPBC19G7.17 SPBC354.02c