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Summary Literature (0)
DOID:1856 - cherubism

Disease Ontology 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.

Synonyms:

Xenbase Genes : sh3bp2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007315 - cherubism


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), skin disease (is_a)