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low molecular weight proteinuria with hypercalciuric nephrocalcinosis
Summary
- 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.
- Super Class
- Dent disease
External Links
- Disease Ontology
- DOID:0111815
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51795 | H(+)/Cl(-) exchange transporter 5 |
