Version: 8.0.0
Date: Tue Jan 28 2025
2 results for DOID:0050699 OR DOID:0081453

Dent disease 1

Disease
Source: DOID:0081453
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.
Source: DOID:0081453
Missing: DOID:0050699

Dent disease

Disease
Source: DOID:0050699
Definition: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
Source: DOID:0050699
Missing: DOID:0081453