About   Help   FAQ
Disease Ontology Browser
autosomal dominant tubulointerstitial kidney disease 1 (DOID:0061122)
Alliance: disease page
Synonyms: familial juvenile hyperuricemic nephropathy 1; HNFJ1; MCKD1; medullary cystic kidney disease 1
Alt IDs: OMIM:162000
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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory