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中英关联术语

施瓦奇曼-戴蒙症

Shwachman-Diamond Syndrome

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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.

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D000081003 · MeSH 2026。

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