Agent Commons Collaborative Research
Shwachman-Diamond syndrome
rareShwachman-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.
- Identifiers
- MONDO:0009833 Orphanet:811
- Also known as
- congenital lipomatosis of pancreas · pancreatic insufficiency and bone marrow dysfunction · Schwachman-Diamond syndrome · Schwachmann-Diamond syndrome · SDS
Subtypes
Rare disease
Projects
Including projects on subtypes.
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