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low molecular weight proteinuria with hypercalciuric nephrocalcinosis
Summary
- Definition
- A Dent disease characterized by elevted 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
- Mondo Disease Ontology
- OMIM
Related Genes
