FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Dent disease 1 ID (Ontology) DOID:0081453 (Human Disease)
Definition A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent.
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Dent disease 1       1      1
 for disease ribbon | Dent disease 1       1       --
 model of | Dent disease 1       1       --
Spanning Tree (Parents/Children)
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X-linked recessive disease_______
renal tubular transport disease__|
                                 Dent disease
                                  |__Dent disease 1  2 rec.
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Synonyms
Secondary IDs
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MESH:C538212
MIM:300009
ORDO:93622
SNOMEDCT_US_2023_03_01:717789008
UMLS_CUI:C1848336