has material basis in germline mutation in SEC61A1 familial juvenile hyperuricemic nephropathy hyperuricemic nephropathy, familial juvenile type 4 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/tubulointerstitial_kidney_disease_autosomal_dominant_5 MEDGEN:934708 familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1 SEC61A1-related autosomal dominant tubulointerstitial kidney disease Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. OMIM:617056 ADTKD-SEC61A1 MONDO:0014891 DOID:0061120 SEC61A1 familial juvenile hyperuricemic nephropathy hyperuricemic nephropathy, familial juvenile, type 4 UMLS:C4310741 hyperuricemic nephropathy, familial juvenile, 4 tubulointerstitial kidney disease, autosomal dominant, 5 HNFJ4 SEC61A1 deficiency