Shwachman syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. (Orphanet Rare Disease Ontology, Orphanet_811)
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1 genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SBDS Shwachman-Bodian-Diamond syndrome