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Human Disease

Dent disease 1

Term ID
DOID:0081453
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. (2)
References
Ontology
Human Disease   ( DOID:0081453 )
Relationships
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Genes Involved
Zebrafish Models