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- B4111da03f7504b6a9daf66a9e89dc25f hasDbXref "Orphanet:811" @default.
- B4111da03f7504b6a9daf66a9e89dc25f type Axiom @default.
- B4111da03f7504b6a9daf66a9e89dc25f annotatedProperty IAO_0000115 @default.
- B4111da03f7504b6a9daf66a9e89dc25f annotatedSource MONDO_0009833 @default.
- B4111da03f7504b6a9daf66a9e89dc25f annotatedTarget "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." @default.