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DOID:0060479 - Shwachman-Diamond syndrome
Disease Ontology Definition:A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
Synonyms: pancreatic insufficiency and bone marrow dysfunction, Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond type metaphyseal dysplasia, Shwachman syndrome
Xenbase Genes : srp54, sbds, dnajc21
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)