About   Help   FAQ
Disease Ontology Browser
autosomal dominant tubulointerstitial kidney disease 5 (DOID:0061120)
Alliance: disease page
Synonyms: familial juvenile hyperuricemic nephropathy 5; HNFJ5; MCKD5; medullary cystic kidney disease 5
Alt IDs: OMIM:617056
Definition: An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21.


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