Related MeSH Hierarchy (4)
Diseases [C] » Digestive System Diseases [C06] » Pancreatic Diseases » Exocrine Pancreatic Insufficiency » Shwachman-Diamond Syndrome
Diseases [C] » Hemic and Lymphatic Diseases [C15] » Hematologic Diseases » Bone Marrow Diseases » Bone Marrow Failure Disorders » Congenital Bone Marrow Failure Syndromes » Shwachman-Diamond Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipomatosis » Shwachman-Diamond Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Shwachman-Diamond Syndrome
Description
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
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