cherubism
Information
- Disease name
- cherubism
- Disease ID
- DOID:1856
- 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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10364528, url:https\://www.ncbi.nlm.nih.gov/pubmed/11381256]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01916772 | Completed | Natural History of Cherubism Observational Study | July 2013 | September 2016 | |
| NCT01630447 | Recruiting | Genetic and Functional Analysis of Cherubism | April 2009 | December 2025 |
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:6036
- Cross Reference ID (Disease Ontology)
- ICD10CM:M27.8
- Cross Reference ID (Disease Ontology)
- MESH:D002636
- Cross Reference ID (Disease Ontology)
- MIM:118400
- Cross Reference ID (Disease Ontology)
- NCI:C84630
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:76098004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0008029
- OrphaNumber from OrphaNet (Orphanet)
- 184
- MeSH unique ID (MeSH (Medical Subject Headings))
- D002636