| Metadata | |
|---|---|
| ID | DOID:1856 |
| Name | cherubism |
| Definition | A bone disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. https://www.ncbi.nlm.nih.gov/pubmed/11381256, https://www.ncbi.nlm.nih.gov/pubmed/10364528 |
| Xrefs |
SNOMEDCT_US_2023_03_01:76098004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a autosomal dominant disease is_a bone disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |