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DO Term : low molecular weight proteinuria with hypercalciuric nephrocalcinosis [DOID:0111815] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Dent disease characterized by elevated 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:
OMIM:308990,
308990

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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