Term Name: | maturity-onset diabetes of the young type 5 |
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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, MODY5, RCAD, renal cysts and diabetes syndrome |
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 ) |