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Summary Literature (2)
DOID:0111101 - maturity-onset diabetes of the young type 5


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

In OMIM:
OMIM:137920 - RENAL CYSTS AND DIABETES SYNDROME; RCAD

In Mondo Disease Ontology:
MONDO:0007669 - renal cysts and diabetes syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hnf4a, hnf1b

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): maturity-onset diabetes of the young (is_a)