Term Name: | Dent disease 1 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081453] ( DOID:0081453 ) |