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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:stomatitis
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Accession:DOID:9637 term browser browse the term
Definition:A mouth disease that is characterized by inflammation of the mouth and lips. (DO)
Synonyms:exact_synonym: Oral Mucositides;   Oral Mucositis;   Oromucositides;   Oromucositis;   Stomatitides
 primary_id: MESH:D013280
 xref: NCI:C26887
For additional species annotation, visit the Alliance of Genome Resources.


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stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase IEP RGD PMID:10569634 RGD:5130878 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cyb5a cytochrome b5 type A ISO RGD PMID:10406239 RGD:11352692 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Nbn nibrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Oral Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO associated with Behcet Syndrome;protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Lep leptin ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) RGD PMID:21719445 RGD:5147916 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951
JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:8,876,090...8,894,345
Ensembl chr 5:8,876,044...8,894,339
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:77,211,814...77,283,369
Ensembl chr 4:77,211,692...77,280,250
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr16:81,718,784...81,756,653
Ensembl chr16:81,719,028...81,756,654
JBrowse link
G Derl1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:97,737,176...97,759,852
Ensembl chr 7:97,737,178...97,759,852
JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:46,352,102...46,888,788
Ensembl chr17:46,353,330...46,794,845
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:164,956,285...164,962,075
Ensembl chr 5:164,956,280...164,959,851
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G LOC100364500 RT1 class I, locus CE11-like susceptibility ISO ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16538176, PMID:21428769, PMID:23588310 NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:79,323,408...79,408,842
Ensembl chr 8:79,323,408...79,408,833
JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS MouseDO NCBI chr11:47,243,342...47,271,487
Ensembl chr11:47,243,342...47,271,487
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:101,480,160...101,511,029
Ensembl chr 1:101,480,145...101,500,850
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:94,445,877...94,451,811
Ensembl chr10:94,445,877...94,451,811
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:163,950,746...163,986,129 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:122,700,849...122,710,907
Ensembl chr 7:122,700,854...122,709,935
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
RGD PMID:19018717, PMID:23692434 RGD:7364874, RGD:7365090
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
Vesicular Stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26418342 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      mouth disease 754
        stomatitis 45
          Herpetic Stomatitis 0
          Stevens-Johnson syndrome 32
          Vesicular Stomatitis 1
          aphthous stomatitis + 8
          denture stomatitis 0
          ulcerative stomatitis + 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            lip disease 171
              stomatitis 45
                Herpetic Stomatitis 0
                Stevens-Johnson syndrome 32
                Vesicular Stomatitis 1
                aphthous stomatitis + 8
                denture stomatitis 0
                ulcerative stomatitis + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.