Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Craniomandibular Disorders
go back to main search page
Accession:DOID:9006105 term browser browse the term
Definition:Diseases or disorders of the muscles of the head and neck, with special reference to the masticatory muscles. The most notable examples are TEMPOROMANDIBULAR JOINT DISORDERS and TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME.
Synonyms:exact_synonym: craniomandibular disease;   craniomandibular diseases;   craniomandibular disorder
 primary_id: MESH:D017271
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Craniomandibular Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO RGD PMID:19014358 RGD:10043096 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by OMIM:123000
ClinVar
OMIM
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532, PMID:11326272 RGD:734571 NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:28492532 NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471 PMID:23951358 PMID:25741868 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO
ISS
ClinVar Annotator: match by term: Craniometaphyseal dysplasia
OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378
ClinVar
MouseDO
NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia ClinVar NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
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 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        muscular disease 1167
          Craniomandibular Disorders 25
            Temporomandibular Joint Disorders + 21
            craniometaphyseal dysplasia + 3
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              muscular disease 1167
                Craniomandibular Disorders 25
                  Temporomandibular Joint Disorders + 21
                  craniometaphyseal dysplasia + 3
paths to the root