| Metadata | |
|---|---|
| ID | DOID:1856 |
| Name | cherubism 1 |
| Definition | A cherubism 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 | |
| SKOS |
exactMatch MIM:118400 exactMatch GARD:6036 exactMatch NCI:C84630 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a cherubism |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |