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Metadata
ID	DOID:1856
Name	cherubism
Definition	A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3. https://www.ncbi.nlm.nih.gov/pubmed/10364528, https://www.ncbi.nlm.nih.gov/pubmed/11381256
Xrefs	GARD:6036 ICD10CM:M27.8 MESH:D002636 NCI:C84630 OMIM:118400 SNOMEDCT_US_2020_09_01:76098004 UMLS_CUI:C0008029
Subsets	NCIthesaurus
Parent Relationships	is_a skin disease is_a autosomal dominant disease