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Syndrome

Shwachman-Diamond Syndrome

AMW:DIS:060223

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.

Pathology clinical
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Shwachman-Diamond Syndrome has parent Congenital Bone Marrow Failure Syndromes
Shwachman-Diamond Syndrome has parent Exocrine Pancreatic Insufficiency
Shwachman-Diamond Syndrome has parent Lipid Metabolism, Inborn Errors
Shwachman-Diamond Syndrome has parent Lipomatosis

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