Concept information
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Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
...
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Preferred term
Dent Disease
Type
-
Topical Descriptor
Broader concept
Entry terms
- Dent's Disease
- Dents Disease
- Disease, Dent's
- Disease, Dents
Scope note
- X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
History note
- 2011
In other languages
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Finnish
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Dent
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Dentin sairaus
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Swedish
URI
http://www.yso.fi/onto/mesh/D057973
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