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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:Mandibular Diseases
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Accession:DOID:9006309 term browser browse the term
Definition:Diseases involving the MANDIBLE.
Synonyms:exact_synonym: Mandibular Disease
 primary_id: MESH:D008336


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Mandibular Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis 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		 OMIM
ClinVar
CTD
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		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 chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
Craniomandibular Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase, STE24 IMP RGD PMID:19014358 RGD:10043096 NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438 		JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis IAGP OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		JBrowse link
Mandibular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Ctnnb1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:19,248,720...19,251,563
Ensembl chr 8:19,248,722...19,251,561 		JBrowse link
Prognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen, type II, alpha 1 susceptibility ISO DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
Retrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C member 8 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279 		JBrowse link
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		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 IEP
ISO		 mRNA:increased expression:temporomandibular joint RGD PMID:24316289 PMID:18830934 RGD:10043104, RGD:10043108 NCBI chr16:85,655,045...85,698,013
Ensembl chr16:85,653,061...85,698,716 		JBrowse link
G Becn1 beclin 1, autophagy related ISO mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr19:60,877,995...61,084,406
Ensembl chr19:60,878,187...61,084,406 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993 		JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 ISO protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr17:80,887,942...81,039,118
Ensembl chr17:80,887,941...81,035,914 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23386193 RGD:10041017 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Temporomandibular Joint Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV ISO RGD PMID:20589683 RGD:5508377 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		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 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340 		JBrowse link
G Becn1 beclin 1, autophagy related ISO RGD PMID:31007149 RGD:34888237 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Casp12 caspase 12 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression ISO RGD PMID:28147322 RGD:155791443 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 6:70,821,468...70,882,225
Ensembl chr 6:70,821,499...70,882,229 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signalling 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Hspa5 heat shock protein 5 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO RGD PMID:31007149 RGD:34888237 NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499 		JBrowse link
G Rps6 ribosomal protein S6 ISO RGD PMID:31007149 RGD:34888237 NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Stomatognathic Diseases 1328
      Jaw Diseases 374
        Mandibular Diseases 38
          Craniomandibular Disorders + 27
          Craniomandibular Osteopathy 0
          Mandibular Neoplasms + 4
          Prognathism + 1
          Retrognathia + 5
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        Jaw Diseases 374
          Mandibular Diseases 38
            Craniomandibular Disorders + 27
            Craniomandibular Osteopathy 0
            Mandibular Neoplasms + 4
            Prognathism + 1
            Retrognathia + 5
paths to the root