Term Name: | Dent disease |
---|---|
Synonyms: | Dent disease 1, Dent disease 2, Dent's disease |
Definition: | A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. |
Ontology: | Human Disease [DOID:0050699] ( DOID:0050699 ) |