FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autosomal dominant tubulointerstitial kidney disease 5 ID (Ontology) DOID:0061120 (Human Disease)
Definition An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21.
Also Known As "familial juvenile hyperuricemic nephropathy 4"
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 autosomal dominant tubulointerstitial kidney disease 5       1
 for disease ribbon | autosomal dominant tubulointerstitial kidney disease 5       1
 model of | autosomal dominant tubulointerstitial kidney disease 5       1
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autosomal dominant disease__
kidney disease______________|
                            autosomal dominant tubulointerstitial kidney disease
                             |__autosomal dominant tubulointerstitial kidney disease 5  1 rec.
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Synonyms
  • "familial juvenile hyperuricemic nephropathy 4" EXACT
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MIM:617056