" /> Shwachman-Diamond Syndrome - CISMeF





Preferred Label : Shwachman-Diamond Syndrome;

MeSH definition : 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.;

MeSH synonym : 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;

Wikipedia link : https://en.wikipedia.org/wiki/Shwachman 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.

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29/07/2025


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