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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:Craniomandibular Disorders
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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


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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 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		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: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		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 ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
Schwartz-Lelek Syndrome 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: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		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 chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Becn1 beclin 1 IEP mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISO ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		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 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		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 6:14,276,623...14,446,321
Ensembl chr 6:14,277,121...14,446,334 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA RGD PMID:23386193 RGD:10041017 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		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 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		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 chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Becn1 beclin 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Casp12 caspase 12 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression IEP RGD PMID:28147322 RGD:155791443 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		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 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029 		JBrowse link
G Fas Fas cell surface death receptor IEP mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		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 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta IEP RGD PMID:31007149 RGD:34888237 NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
Ensembl chr16:49,665,791...49,677,690 		JBrowse link
G Rps6 ribosomal protein S6 IEP RGD PMID:31007149 RGD:34888237 NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        muscular disease 2219
          Craniomandibular Disorders 27
            Temporomandibular Joint Disorders + 23
            craniometaphyseal dysplasia + 3
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                Craniomandibular Disorders 27
                  Temporomandibular Joint Disorders + 23
                  craniometaphyseal dysplasia + 3
paths to the root