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Echinobase
Summary Literature (0)
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:
MIM: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)