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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;   RDO:0006060
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Mandibular Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12913070 NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar
OMIM
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532, PMID:11326272 RGD:734571 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G LOC100130744 uncharacterized LOC100130744 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:28492532 NCBI chr 5:14,712,694...14,716,529 JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP 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 5:14,660,794...14,716,552
Ensembl chr 5:14,664,664...14,699,850
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 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type ClinVar
OMIM
PMID:11146471 PMID:23951358 PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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 ISO RGD PMID:19014358 RGD:10043096 NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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 IAGP
ISS
ClinVar Annotator: match by term: Craniometaphyseal dysplasia
OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378
ClinVar
MouseDO
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia ClinVar NCBI chr 5:14,660,794...14,716,552
Ensembl chr 5:14,664,664...14,699,850
JBrowse link
Mandibular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CTNNB1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DEFB1 defensin beta 1 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
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 chain susceptibility IAGP DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Prognathism ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 IAGP ClinVar Annotator: match by term: Prognathism ClinVar NCBI chr 2:53,787,017...53,834,524
Ensembl chr 2:53,787,044...53,818,819
JBrowse link
G GPR75-ASB3 GPR75-ASB3 readthrough IAGP ClinVar Annotator: match by term: Prognathism ClinVar NCBI chr 2:53,670,293...53,859,967
Ensembl chr 2:53,532,672...53,860,160
JBrowse link
Retrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Mandibular retrusion ClinVar PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532 NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP ClinVar Annotator: match by term: Maxillary retrusion ClinVar PMID:25741868 NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Mandibular retrusion ClinVar PMID:25741868 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Maxillary retrusion ClinVar PMID:25741868 NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Mandibular retrusion ClinVar PMID:25741868 PMID:30905398 NCBI chr 6:33,771,213...33,794,274
Ensembl chr 6:33,771,202...33,789,130
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Mandibular retrusion ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27929079 PMID:28492532 PMID:32581362 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ClinVar Annotator: match by term: Mandibular retrusion ClinVar PMID:25741868 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
JBrowse link
G PRRX1 paired related homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr 1:170,662,728...170,739,421
Ensembl chr 1:170,662,728...170,739,421
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Mandibular retrusion ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17917015 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20006554 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
Scaphocephaly, Maxillary Retrusion, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Scaphocephaly, maxillary retrusion, and mental retardation OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9169049 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16061565 PMID:16158432 PMID:16440883 PMID:16838304 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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 IAGP DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNX3 sorting nexin 3 IAGP OMIM NCBI chr 6:108,211,222...108,261,040
Ensembl chr 6:108,211,222...108,261,246
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
IEP
mRNA:increased expression:temporomandibular joint RGD PMID:24316289, PMID:18830934 RGD:10043104, RGD:10043108 NCBI chr21:26,917,922...26,967,758
Ensembl chr21:26,917,922...26,967,088
JBrowse link
G BECN1 beclin 1 ISO mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G COMT catechol-O-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G GRK5 G protein-coupled receptor kinase 5 IAGP DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr20:34,546,823...34,560,345
Ensembl chr20:34,546,854...34,560,345
JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 ISO protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 2:39,248,941...39,437,312
Ensembl chr 2:39,249,266...39,437,301
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23386193 RGD:10041017 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr 5:7,851,186...7,901,124
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G TNF tumor necrosis factor severity IEP associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 ISO RGD PMID:20589683 RGD:5508377 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
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 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G BECN1 beclin 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G CASP12 caspase 12 (gene/pseudogene) ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr11:104,885,718...104,898,460
Ensembl chr11:104,885,718...104,898,670
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
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 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr17:64,039,142...64,132,469
Ensembl chr17:64,039,080...64,130,819
JBrowse link
G FAS Fas cell surface death receptor ISO mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO RGD PMID:31007149 RGD:34888237 NCBI chr16:87,392,336...87,404,774
Ensembl chr16:87,383,953...87,404,779
JBrowse link
G RPS6 ribosomal protein S6 ISO RGD PMID:31007149 RGD:34888237 NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20158
    Stomatognathic Diseases 1012
      Jaw Diseases 309
        Mandibular Diseases 48
          Craniomandibular Disorders + 26
          Craniomandibular Osteopathy 0
          Mandibular Neoplasms + 4
          Prognathism + 5
          Retrognathia + 12
Path 2
Term Annotations click to browse term
  disease 20158
    disease of anatomical entity 18756
      musculoskeletal system disease 6880
        Jaw Diseases 309
          Mandibular Diseases 48
            Craniomandibular Disorders + 26
            Craniomandibular Osteopathy 0
            Mandibular Neoplasms + 4
            Prognathism + 5
            Retrognathia + 12
paths to the root