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Wolfram Syndrome

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
推出的年份: 1986
副标题
树号: C09.218.458.341.186.500.750, C10.292.700.225.500.980, C10.574.500.662.980, C10.597.751.418.341.186.500.750, C10.597.751.941.162.625.750, C11.270.564.980, C11.640.451.451.980, C11.966.075.375.750, C12.050.351.968.419.135.875, C12.200.777.419.135.875, C12.950.419.135.875, C16.131.077.299.750, C16.320.290.564.980, C16.320.400.630.980, C18.452.394.750.124.960, C19.246.267.960, C19.700.159.875
MeSH 单一 ID: D014929
进入的组:
  • Syndrome, Wolfram
  • Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
  • DIDMOAD Syndrome
  • DIDMOADUD
  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness
  • DIDMOAD
  • Wolfram Syndrome 1
早前的内容:
  • Deafness (1966-1985)
  • Diabetes Insipidus (1966-1985)
  • Diabetes Mellitus, Insulin-Dependent (1984-1985)
  • Optic Atrophy (1966-1985)

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