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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam193a family with sequence similarity 193, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,579,983...76,752,460 JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar Annotator: match by OMIM:118400
ClinVar Annotator: match by term: Cherubism
ClinVar
OMIM
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:16786512 More... RGD:1599339 NCBI chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251
JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265
JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Stomatognathic Diseases 1009
      Jaw Diseases 303
        cherubism 10
          Al Gazali Khidr Prem Chandran Syndrome 0
          Ramon Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              osteochondrodysplasia 478
                Fibrous Dysplasia of Bone 14
                  cherubism 10
                    Al Gazali Khidr Prem Chandran Syndrome 0
                    Ramon Syndrome 0
paths to the root