DOID:0050699 - Dent disease
Disease Ontology 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.
Synonyms: Dent disease 1, Dent disease 2, Dent's disease,
Echinobase Genes :
|OMIM:300009 - dent disease 1|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): renal tubular transport disease (is_a)