ONTOLOGY REPORT - ANNOTATIONS


Term:cherubism
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Accession:DOID:1856 term browser browse the term
Definition:A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.
Synonyms:exact_synonym: CRBM;   Familial Benign Giant-Cell Tumor of the Jaw;   Familial Fibrous Dysplasia of Jaw;   Familial Multilocular Cystic Disease of the Jaws
 primary_id: MESH:D002636;   RDO:0000291
 alt_id: OMIM:118400
 xref: GARD:6036
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cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3bp2 SH3-domain binding protein 2 JBrowse link 14 81,435,445 81,473,013 RGD:1599339
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Stomatognathic Diseases 847
      Jaw Diseases 250
        cherubism 1
          Al Gazali Khidr Prem Chandran Syndrome 0
          Ramon Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                Fibrous Dysplasia of Bone 5
                  cherubism 1
                    Al Gazali Khidr Prem Chandran Syndrome 0
                    Ramon Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.