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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;   fibrous dysplasia of jaw
 primary_id: MESH:D002636
 alt_id: OMIM:118400
 xref: GARD:6036;   NCI:C84630
For additional species annotation, visit the Alliance of Genome Resources.


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cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam193a family with sequence similarity 193, member A JBrowse link 14 81,515,897 81,638,919 RGD:8554872
G Haus3 HAUS augmin-like complex, subunit 3 JBrowse link 14 81,837,772 81,857,458 RGD:8554872
G Mxd4 Max dimerization protein 4 JBrowse link 14 81,819,415 81,833,456 RGD:8554872
G Nat8l N-acetyltransferase 8-like JBrowse link 14 82,041,616 82,048,251 RGD:8554872
G Poln DNA polymerase nu JBrowse link 14 81,837,764 82,037,999 RGD:8554872
G Rnf4 ring finger protein 4 JBrowse link 14 81,658,400 81,679,756 RGD:8554872
G Sh3bp2 SH3-domain binding protein 2 JBrowse link 14 81,435,445 81,473,013 RGD:1599339
RGD:7240710
RGD:8554872
G Tnip2 TNFAIP3 interacting protein 2 JBrowse link 14 81,487,934 81,505,889 RGD:8554872
G Zfyve28 zinc finger FYVE-type containing 28 JBrowse link 14 81,725,513 81,811,142 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Stomatognathic Diseases 930
      Jaw Diseases 281
        cherubism 9
          Al Gazali Khidr Prem Chandran Syndrome 0
          Ramon Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              osteochondrodysplasia 430
                Fibrous Dysplasia of Bone 13
                  cherubism 9
                    Al Gazali Khidr Prem Chandran Syndrome 0
                    Ramon Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.