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 )

Relationships
is a type of: autosomal dominant tubulointerstitial kidney disease