| Metadata | |
|---|---|
| ID | DOID:0061118 |
| Name | autosomal dominant tubulointerstitial kidney disease 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/31488840/ |
| Xrefs | |
| Synonyms |
familial juvenile hyperuricemic nephropathy 2 [EXACT] HNFJ2 [EXACT] MCKD2 [EXACT] medullary cystic kidney disease 2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset |