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Dent disease

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0015612:  Dent disease
GARD:0013105: 
MESH:D057973: 
NCIT:C123260: 
OMIMPS:300009: 
Orphanet:1652: 
SCTID:444645005: 
UMLS:C0878681: 
UMLS:CN239269: