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ENShwachman-Diamond Syndrome 1 (SDS1)
Alias:
Shwachman-Diamond Syndrome
Shwachman Syndrome
Shwachman-Bodian-Diamond Syndrome
Pancreatic Insufficiency and Bone Marrow Dysfunction
Sds
Shwachman-Bodian Syndrome
Sds1
Shwachman-Diamond Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia, Shwachman Type
Lipomatosis of Pancreas, Congenital
Congenital Lipomatosis of Pancreas
Shwachman-Diamond-Oski Syndrome
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Shwachman-Diamond Syndrome 1, also known as shwachman-diamond syndrome, is related to severe congenital neutropenia 8 and aplastic anemia. An important gene associated with Shwachman-Diamond Syndrome 1 is SBDS (SBDS Ribosome Maturation Factor), and among its related pathways/superpathways are Metabolism of proteins and Nervous system development. The drugs Fludarabine and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and abnormality of the skeletal system
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MALACARDS
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