Term Name: Dent disease 1
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 )

Relationships
is a type of: Dent disease