| Metadata | |
|---|---|
| ID | DOID:0081453 |
| Name | Dent disease 1 |
| Definition | A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. https://pubmed.ncbi.nlm.nih.gov/32248351/, https://www.ncbi.nlm.nih.gov/books/NBK99494/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:717789008 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a Dent disease |