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
Accession: DOID:9006281
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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