Version: 8.0.0
Date: Tue Jan 28 2025
2 results for DOID:0050699 OR DOID:0081454

Dent disease 2

Disease
Source: DOID:0081454
Definition: A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26.
Source: DOID:0081454
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:0081454