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DOID:0061118 - autosomal dominant tubulointerstitial kidney disease 2
Disease Ontology Definition:An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22.
Synonyms: familial juvenile hyperuricemic nephropathy 2, HNFJ2, MCKD2, medullary cystic kidney disease 2
Xenbase Genes
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Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee