| Term Name: | autosomal dominant tubulointerstitial kidney disease 2 |
|---|---|
| Synonyms: | autosomal dominant medullary cystic kidney disease, familial juvenile hyperuricemic nephropathy 2, medullary cystic kidney disease 2, medullary type polycystic kidneys |
| Definition: | An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. |
| Ontology: | Human Disease [DOID:0061118] ( DOID:0061118 ) |