Dent disease

Summary

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

In OMIM:

OMIM:300009 - DENT DISEASE 1
OMIM:300555 - DENT DISEASE 2

OMIM:300009 - DENT DISEASE 1

OMIM:300555 - DENT DISEASE 2

In Mondo Disease Ontology:

MONDO:0015612 - Dent disease

MONDO:0015612 - Dent disease

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ocrl, clcn5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Parent(s): renal tubular transport disease (is_a)