Term Name: | autosomal dominant tubulointerstitial kidney disease 5 |
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Synonyms: | familial juvenile hyperuricemic nephropathy 5, HNFJ5, MCKD5, medullary cystic kidney disease 5 |
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. |
Ontology: | Human Disease [DOID:0061120] ( DOID:0061120 ) |