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Disease Ontology Browser
cherubism (DOID:1856)
Alliance: disease page
Alt IDs: OMIM:118400, ICD10CM:M27.8, MESH:D002636, NCI:C84630, UMLS_CUI:C0008029
Definition: A bone disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.

Disease References using Mouse Models (4)
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)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory