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 )

Relationships
is a type of: autosomal dominant disease skin disease