| Metadata | |
|---|---|
| ID | DOID:0061120 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061120 Copy |
| Name | autosomal dominant tubulointerstitial 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/ |
| Xrefs | |
| Synonyms |
familial juvenile hyperuricemic nephropathy 4 [EXACT] |
| Parent Relationships |