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Shwachman-Diamond syndrome

Disease Summary
Associated Targets (5)
Tbio

4

Tdark

1


Explore Associated Targets
Mondo 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.
Disease Ontology Description A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
Mondo Term and Equivalent IDs
MONDO:0009833:  Shwachman-Diamond syndrome
GARD:0004863: 
MESH:C537330: 
NCIT:C61235: 
OMIMPS:260400: 
Orphanet:811: 
SCTID:89454001: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)