Term Name: | renal cysts and diabetes syndrome |
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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 |
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. |
Ontology: | Human Disease [DOID:0111101] ( DOID:0111101 ) |