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Summary Literature (6)
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,

Xenbase Genes : ocrl, clcn5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015612 - Dent disease


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)