autosomal dominant tubulointerstitial kidney disease 5

Summary

DOID:0061120 - autosomal dominant tubulointerstitial kidney disease 5

Disease Ontology 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.

Synonyms: familial juvenile hyperuricemic nephropathy 5, HNFJ5, MCKD5, medullary cystic kidney disease 5

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant tubulointerstitial kidney disease (is_a)