Search Ontology:
Human Disease

low molecular weight proteinuria with hypercalciuric nephrocalcinosis

Term ID
DOID:0111815
Synonyms
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. https://www.ncbi.nlm.nih.gov/pubmed/9062355
References
Ontology
Human Disease   ( DOID:0111815 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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