Term Name: | cherubism |
---|---|
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. |
Ontology: | Human Disease [DOID:1856] ( DOID:1856 ) |