autosomal dominant tubulointerstitial kidney disease 1

Summary

DOID:0061122 - autosomal dominant tubulointerstitial kidney disease 1

Disease Ontology Definition:An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12.

Synonyms: familial juvenile hyperuricemic nephropathy 1, HNFJ1, MCKD1, medullary cystic kidney disease 1

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)