- Concept UI
- M0540326
- 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.
- Terms
-
Dent Disease
Preferred Term
Term UI
T759878
Date10/23/2009
LexicalTag
EPO
ThesaurusID
-
Dent's Disease
Term UI
T759879
Date10/23/2009
LexicalTag
EPO
ThesaurusID
-
Dents Disease
Term UI
T759880
Date10/23/2009
LexicalTag
EPO
ThesaurusID