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Summary Literature (2)
DOID:0111101 - renal cysts and diabetes syndrome

Disease Ontology Definition:A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.

Synonyms: atypical familial juvenile hyperuricemic nephropathy, atypical FJHN, CAKUT with diabetes, congenital anomalies of the kidney and urinary tract with diabetes, familial hypoplastic glomerulocystic kidney, hypoplastic type glomerulocystic kidney disease, maturity-onset diabetes of the young type 5, MODY5, RCAD, renal cysts and diabetes syndrome

Xenbase Genes : hnf4a, hnf1b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007669 - renal cysts and diabetes syndrome

MIM:
MIM:137920 - RENAL CYSTS AND DIABETES SYNDROME; RCAD

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal dominant tubulointerstitial kidney disease (is_a), maturity-onset diabetes of the young (is_a)