| Metadata | |
|---|---|
| ID | DOID:0061122 |
| Name | autosomal dominant tubulointerstitial kidney disease 1 |
| Definition | An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. https://pubmed.ncbi.nlm.nih.gov/31488840/ |
| Xrefs | |
| Synonyms |
ADMCKD2 [EXACT] autosomal dominant medullary cystic kidney disease 2 [EXACT] familial juvenile gouty nephropathy [EXACT] familial juvenile hyperuricemic nephropathy 1 [EXACT] familial juvenile hyperuricemic nephropathy [EXACT] glomerulocystic kidney disease with hyperuricemia and isosthenuria [EXACT] medullary cystic kidney disease 2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset |