Version: 8.0.0
Date: Tue Jan 28 2025
Dent disease 1
DOID:0081453
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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