| Metadata | |
|---|---|
| ID | DOID:0081454 |
| Name | Dent disease 2 |
| Definition | A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/15627218/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:717790004 |
| Parent Relationships |
is_a Dent disease |