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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
OMIM:300009 - DENT DISEASE 1 |
OMIM:300555 - DENT DISEASE 2 |
MONDO:0015612 - Dent disease |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s):
renal tubular transport disease (is_a)