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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:Temporomandibular Joint Disorders
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Accession:DOID:9006281 term browser browse the term
Definition:A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. (From Thoma's Oral Pathology, 6th ed, pp577-600)
Synonyms:exact_synonym: TMJ Disease;   TMJ Diseases;   TMJ Disorder;   TMJ Disorders;   Temporomandibular Disorder;   Temporomandibular Disorders;   Temporomandibular Joint Disease;   Temporomandibular Joint Diseases;   Temporomandibular Joint Disorder
 primary_id: MESH:D013705;   RDO:0002690
 xref: EFO:0005279


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Temporomandibular Joint Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 severity ISO mRNA:increased expression:temporomandibular joint RGD PMID:24316289 PMID:18830934 RGD:10043104, RGD:10043108 NCBI chr11:38,486,945...38,533,516
Ensembl chr11:38,486,955...38,533,516 		JBrowse link
G Becn1 beclin 1 IEP mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISO ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chr 1:198,897,021...199,413,636
Ensembl chr 1:198,897,045...199,413,627 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr 1:270,014,314...270,208,294
Ensembl chr 1:270,014,282...270,204,928 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:164,243,093...164,244,850 		JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 IEP protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 6:20,029,246...20,198,583
Ensembl chr 6:20,029,397...20,198,583 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA RGD PMID:23386193 RGD:10041017 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:36,695,460...36,727,807 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
Temporomandibular Ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 IEP mRNA,protein:decreased expression:Temporomandibular joint RGD PMID:36494653 RGD:598092507 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
Temporomandibular Joint Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 3A IMP RGD PMID:20589683 RGD:5508377 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
Temporomandibular Joint Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033 		JBrowse link
G Becn1 beclin 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002 		JBrowse link
G Casp12 caspase 12 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:10,926,994...10,954,442 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:65,005,501...65,006,509 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression IEP RGD PMID:28147322 RGD:155791443 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:104,363,833...104,425,268 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,830,428...91,920,791 		JBrowse link
G Fas Fas cell surface death receptor IEP mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:38,453,041...38,458,790 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta IEP RGD PMID:31007149 RGD:34888237 NCBI chr19:66,571,631...66,582,270
Ensembl chr19:66,574,407...66,584,358
Ensembl chr16:66,574,407...66,584,358 		JBrowse link
G Rps6 ribosomal protein S6 IEP RGD PMID:31007149 RGD:34888237 NCBI chr 5:106,417,680...106,420,540
Ensembl chr 5:106,417,680...106,420,566 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Stomatognathic Diseases 1096
      Temporomandibular Joint Disorders 24
        Temporomandibular Ankylosis 1
        Temporomandibular Joint Dysfunction Syndrome 1
        Temporomandibular Joint Osteoarthritis 11
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        peripheral nervous system disease 2242
          neuropathy 2032
            neuromuscular disease 1464
              muscular disease 1132
                Craniomandibular Disorders 27
                  Temporomandibular Joint Disorders 24
                    Temporomandibular Ankylosis 1
                    Temporomandibular Joint Dysfunction Syndrome 1
                    Temporomandibular Joint Osteoarthritis 11
paths to the root