Search Ontology:
Human Disease
autosomal dominant tubulointerstitial kidney disease 5
- Term ID
- DOID:0061120
- Synonyms
-
- familial juvenile hyperuricemic nephropathy 5
- HNFJ5
- MCKD5
- medullary cystic kidney disease 5
- 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. https://pubmed.ncbi.nlm.nih.gov/27392076/
- References
- Ontology
- Human Disease ( DOID:0061120 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models