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Summary Literature (0)
DOID:0060062 - autosomal dominant tubulointerstitial kidney disease


Disease Ontology Definition:A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades.

Synonyms: familial juvenile hyperuricemic nephropathy, HNFJ, MCKD, medullary cystic kidney disease

Xenbase Genes : umod, hnf4a, hnf1b, umod.3, umod.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000608 - closed

MIM:
MIM:162000 - TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1; ADTKD1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), kidney disease (is_a)