| Metadata | |
|---|---|
| ID | DOID:0111101 |
| Name | maturity-onset diabetes of the young type 5 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15930087, https://www.ncbi.nlm.nih.gov/pubmed/11085914 |
| Xrefs | |
| Synonyms |
atypical familial juvenile hyperuricemic nephropathy [EXACT] atypical FJHN [EXACT] CAKUT with diabetes [EXACT] congenital anomalies of the kidney and urinary tract with diabetes [EXACT] familial hypoplastic glomerulocystic kidney [EXACT] hypoplastic type glomerulocystic kidney disease [EXACT] MODY5 [EXACT] RCAD [EXACT] renal cysts and diabetes syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |