FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term low molecular weight proteinuria with hypercalciuric nephrocalcinosis ID (Ontology) DOID:0111815 (Human Disease)
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.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 low molecular weight proteinuria with hypercalciuric nephrocalcinosis       1      1      1
 for disease ribbon | low molecular weight proteinuria with hypercalciuric nephrocalcinosis       --       1       --
 model of | low molecular weight proteinuria with hypercalciuric nephrocalcinosis       1      1       --
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X-linked recessive disease_______
renal tubular transport disease__|
                                 Dent disease
                                  |__low molecular weight proteinuria with hypercalciuric nephrocalcinosis  3 rec.
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MIM:308990