About   Help   FAQ
Disease Ontology Browser
Shwachman-Diamond syndrome (DOID:0060479)
Alliance: disease page
Synonyms: pancreatic insufficiency and bone marrow dysfunction; Shwachman syndrome; Shwachman-Bodian-Diamond syndrome; Shwachman-Diamond type metaphyseal dysplasia
Alt IDs: OMIM:260400, ICD10CM:D61.0, MESH:D000081003
Definition: A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory