Disease association ontology term - MONDO:0009833 - Shwachman-Diamond syndrome
Term summary
- ID
- MONDO:0009833
- Name
- Shwachman-Diamond syndrome
- Ontology or CV name
- Disease association
- Definition
- 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.
