Shwachman-Diamond syndrome (Monarch Disease Ontology identifier MONDO_0009833) (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. Also known as: SDS, Schwachman-Diamond syndrome, Schwachmann-Diamond syndrome, Shwachman Diamond Syndrome, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome, pancreatic insufficiency and bone marrow dysfunction.