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Echinobase
Summary Literature (0)
DOID:0111815 - low molecular weight proteinuria with hypercalciuric nephrocalcinosis

Disease Ontology Definition:A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.

Synonyms:

Echinobase Genes :


OMIM:
MIM:308990 - proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Dent disease (is_a)