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Shwachman-Diamond Syndrome

An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome.
推出的年份: 2020(2014)
副标题
树号: C06.689.276.500, C15.378.190.223.500.875, C18.452.584.563.824, C18.452.584.718.875
MeSH 单一 ID: D000081003
进入的组:
  • Shwachman Syndrome
  • Pancreatic Insufficiency and Bone Marrow Dysfunction
  • Shwachman-Diamond-Oski Syndrome
  • Shwachman Diamond Oski Syndrome
  • Congenital Lipomatosis of Pancreas
  • Pancreas Congenital Lipomatoses
  • Pancreas Congenital Lipomatosis
  • Metaphyseal Chondrodysplasia, Shwachman Type
  • Shwachman-Bodian-Diamond Syndrome
  • Shwachman Bodian Diamond Syndrome
  • Shwachman Diamond Syndrome
  • Shwachman-Bodian Syndrome
  • Shwachman Bodian Syndrome

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