Cherubism
Disease ID: disease_node_2029
Connections displayed (default: 10).
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| Dbxref | GARD:6036, ICD10CM:M27.8, MESH:D002636, MIM:118400, NCI:C84630, SNOMEDCT_US_2023_03_01:76098004, UMLS_CUI:C0008029 |
|---|---|
| Subclassof | DOID_0050736, DOID_37 |
| Data Source | DOID, MESH |
| Mesh Id | D002636 |
| Mesh Label | Cherubism |
| Mesh Subclassof | D030342, D007571, D019767, D005357 |
| Doid Label | cherubism |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_2029 |
| Doid Id | DOID_1856 |
| Label | Cherubism |
- Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)