Term Name: | Shwachman-Diamond syndrome |
---|---|
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. |
Ontology: | Human Disease [DOID:0060479] ( DOID:0060479 ) |