Term Name: autosomal dominant tubulointerstitial kidney disease 5
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 )

Relationships
is a type of: autosomal dominant tubulointerstitial kidney disease