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Human Disease

Shwachman-Diamond syndrome

Term ID
DOID:0060479
Synonyms
  • pancreatic insufficiency and bone marrow dysfunction
  • Shwachman syndrome
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman-Diamond type metaphyseal dysplasia
Definition
A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (4)
References
Ontology
Human Disease   ( DOID:0060479 )
Relationships
is a type of
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Genes Involved
Zebrafish Models