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Browse result for Cherubism
※ introduction 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.
Reference
DiseaseOntology: Cherubism
Reference
DiseaseOntology: Cherubism
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05934 | P78314 | 6452 | SH3BP2 | SH3 domain-binding protein 2 | Homo sapiens |