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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
For additional species annotation, visit the Alliance of Genome Resources.

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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 chr11:25,411,174...25,456,639
Ensembl chr11:25,410,975...25,456,836 		JBrowse link
G Becn1 beclin 1 IEP mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052 		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 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935 		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 6:3,276,732...3,444,519
Ensembl chr 6:3,276,738...3,444,519 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA RGD PMID:23386193 RGD:10041017 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967 		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 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000 		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 fragment of IgG receptor IIIa IMP RGD PMID:20589683 RGD:5508377 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051 		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 chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443 		JBrowse link
G Becn1 beclin 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297 		JBrowse link
G Casp12 caspase 12 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084 		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 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914 		JBrowse link
G Fas Fas cell surface death receptor IEP mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		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 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta IEP RGD PMID:31007149 RGD:34888237 NCBI chr19:53,635,449...53,643,970
Ensembl chr19:53,629,779...53,646,058 		JBrowse link
G Rps6 ribosomal protein S6 IEP RGD PMID:31007149 RGD:34888237 NCBI chr 5:105,197,821...105,200,681
Ensembl chr 5:105,197,857...105,200,148
Ensembl chr 5:105,197,857...105,200,148 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Stomatognathic Diseases 973
      Temporomandibular Joint Disorders 21
        Temporomandibular Ankylosis 0
        Temporomandibular Joint Dysfunction Syndrome 1
        Temporomandibular Joint Osteoarthritis 10
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                Craniomandibular Disorders 25
                  Temporomandibular Joint Disorders 21
                    Temporomandibular Ankylosis 0
                    Temporomandibular Joint Dysfunction Syndrome 1
                    Temporomandibular Joint Osteoarthritis 10
paths to the root