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