MeSH 搜索器

Dent Disease

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.
推出的年份: 2011
副标题
树号: C12.050.351.968.419.815.364, C12.200.777.419.815.364, C12.950.419.815.364, C16.320.322.100, C16.320.831.271
MeSH 单一 ID: D057973
进入的组:
  • Disease, Dent
  • Dents Disease
  • Disease, Dents
  • Dent's Disease
  • Disease, Dent's

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