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Shwachman-Diamond Syndrome
Shwachman-Diamond Syndrome
Prevalence:
1/75000
hematologic
Official
·
OMIM:260400
Official
·
ORPHA811
Pancreatic insufficiency and bone marrow failure due to SBDS gene mutations.
Associated Genes
SBDS
SBDS Ribosome Maturation Factor
Chromosome 7
Autosomal Recessive