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.
Year introduced: 2020(2014)
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Subheadings:
Tree Number(s): C06.689.276.500, C15.378.190.223.500.875, C18.452.584.563.824, C18.452.584.718.875
MeSH Unique ID: D000081003
Entry Terms:
- Shwachman Syndrome
- Pancreatic Insufficiency and Bone Marrow Dysfunction
- Shwachman-Bodian Syndrome
- Shwachman Bodian 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-Diamond-Oski Syndrome
- Shwachman Diamond Oski Syndrome