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Dent disease 2
Summary
- 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.
- Super Class
- Dent disease
External Links
- Disease Ontology
- DOID:0081454
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01968 | Inositol polyphosphate 5-phosphatase OCRL |
