OBO ID: DOID:1856
Term Name: cherubism Search Ontology:
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 SH3BP2 on chromosome 4p16.3. (2)
References:
Ontology: Human Disease   (DOID:1856)
OTHER cherubism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SH3BP2 Cherubism 118400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None