cherubism

Term ID

DOID:1856

Synonyms

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 the SH3BP2 gene on chromosome 4p16.3. (2)

References

• GARD:6036
• ICD10CM:M27.8
• MESH:D002636
• MIM:118400
• NCI:C84630
• SNOMEDCT_US_2023_03_01:76098004
• UMLS_CUI:C0008029

Ontology

Human Disease   ( DOID:1856 )