Term Name: | low molecular weight proteinuria with hypercalciuric nephrocalcinosis |
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Synonyms: | |
Definition: | A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. |
Ontology: | Human Disease [DOID:0111815] ( DOID:0111815 ) |