Metadata | |
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ID | DOID:1856 |
Name | cherubism |
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. https://www.ncbi.nlm.nih.gov/pubmed/10364528, https://www.ncbi.nlm.nih.gov/pubmed/11381256 |
Xrefs |
SNOMEDCT_US_2020_09_01:76098004 UMLS_CUI:C0008029 |
Subsets |
NCIthesaurus |
Parent Relationships |
is_a skin disease |