Search Ontology:
Human Disease
Dent disease 1
- Term ID
- DOID:0081453
- Synonyms
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- 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. (2)
- References
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- MESH:C538212
- MIM:300009
- ORDO:93622
- SNOMEDCT_US_2023_03_01:717789008
- UMLS_CUI:C1848336
- Ontology
- Human Disease ( DOID:0081453 )
- is a type of
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Genes Involved
Zebrafish Models