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autosomal dominant tubulointerstitial kidney disease 2 (DOID:0061118)
Alliance: disease page
Synonyms: familial juvenile hyperuricemic nephropathy 2; HNFJ2; MCKD2; medullary cystic kidney disease 2
Alt IDs: OMIM:174000
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/18/2025
MGI 6.24 		The Jackson Laboratory