Metadata | |
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ID | DOID:0111815 |
Name | low molecular weight proteinuria with hypercalciuric nephrocalcinosis |
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. https://www.ncbi.nlm.nih.gov/pubmed/9062355 |
Xrefs | |
Parent Relationships |
is_a Dent disease |