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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:conjunctival disease
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Accession:DOID:4251 term browser browse the term
Definition:Diseases involving the CONJUNCTIVA.
Synonyms:exact_synonym: conjunctival diseases
 primary_id: MESH:D003229;   RDO:0000943
 xref: ICD10CM:H11.9;   ICD9CM:372.9;   NCI:C27605
For additional species annotation, visit the Alliance of Genome Resources.



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conjunctival disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:15584350 RGD:9017974 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872714 NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
JBrowse link
G Il6 interleukin 6 ISO conjunctivochalasis;protein:increased expression:tear: RGD PMID:19158563 RGD:7829815 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO RGD PMID:22297496 RGD:7777184 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
allergic conjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl11 C-C motif chemokine ligand 11 IEP mRNA:increased expression:conjunctiva RGD PMID:12682842 RGD:2307196 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:19553621 RGD:8548840 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:conjunctiva RGD PMID:12682842 RGD:2307196 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:conjunctiva RGD PMID:11090473 RGD:6483824 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:18658092 RGD:6893389 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8766745 RGD:8547686 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma IDA
ISO
RGD PMID:12234900 PMID:16123425 RGD:8142386, RGD:8142391 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 treatment ISO protein:increased expression:tear RGD PMID:22092652 PMID:16914468 PMID:15144463 PMID:19060266 RGD:7364837, RGD:11041889, RGD:7365076, RGD:7365027 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 ISO associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) RGD PMID:9191598 PMID:22023794 RGD:8549533, RGD:8549595 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:9326725 RGD:7401198 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:10549671 RGD:8549802 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO associated with rhinitis; DNA:SNP: : rs2107356 (human) RGD PMID:20002627 RGD:4890389 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Irf1 interferon regulatory factor 1 IEP RGD PMID:14605445 RGD:5128787 NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase IDA protein:increased phosphorylation:T cell RGD PMID:14507881 RGD:1600225 NCBI chr 5:141,888,319...141,916,992
Ensembl chr 5:141,888,326...141,903,794
JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO RGD PMID:17177679 RGD:7349351 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming severity ISO RGD PMID:17177679 RGD:7349351 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Muc4 mucin 4, cell surface associated severity ISO RGD PMID:17177679 PMID:11581187 RGD:7349351, RGD:7349400 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO protein:increased expression:body fluid or substance RGD PMID:21042565 RGD:6482725 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:16914468 RGD:11041889 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Staphylococcal Infections; RGD PMID:19358332 RGD:8552826 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:conjunctiva: RGD PMID:21820713 PMID:16023216 PMID:21391988 RGD:7777131, RGD:7794849, RGD:7794770 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:decreased expression:conjunctiva: RGD PMID:16023216 RGD:7794849 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnc tenascin C ISO DNA:SNPs: :multiple (human) RGD PMID:18305139 RGD:4889589 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
JBrowse link
Allergic Rhinoconjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO associated with Eosinophilic Esophagitis; DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Il3 interleukin 3 susceptibility ISO DNA:SNP: :rs40401(human) RGD PMID:23953855 RGD:13506915 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
bacterial conjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Muc1 mucin 1, cell surface associated ISO RGD PMID:10359313 RGD:7349379 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
chronic conjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:conjunctival epithelial cell (human) RGD PMID:9990333 RGD:8662412 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
cicatricial pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD PMID:9683867 PMID:9008223 RGD:7365096, RGD:7483589 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*1101, DRB1*0701(human)
DNA:polymorphism: :HLA-DRB1*04(human)
RGD PMID:9683867 PMID:8052655 RGD:7365096, RGD:7365103 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis OMIA PMID:16961470 PMID:22212237 PMID:22253609 PMID:22339941 PMID:29284193 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link
conjunctival squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3a ADAM metallopeptidase domain 3A ISO DNA, mRNA:amplification, increase expression RGD PMID:25491297 RGD:13831354 NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
JBrowse link
conjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased expression:tear RGD PMID:3875643 RGD:7421524 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cfb complement factor B ISO protein:increased expression:tear RGD PMID:3875643 RGD:7421524 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:22692452 RGD:9491751 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IDA RGD PMID:23378729 RGD:8657047 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Plg plasminogen ISO ligneous conjunctivitis,OMIM:217090;DNA:point mutation:exon:R216H,W597X RGD PMID:9242524 RGD:1601405 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Ptafr platelet-activating factor receptor IEP protein:increased expression:conjunctiva, eosinophil (rat) RGD PMID:15735601 RGD:9999205 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
JBrowse link
conjunctivochalasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:tear: RGD PMID:20861728 RGD:8547943 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:conjunctiva RGD PMID:20019361 RGD:8693314 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:conjunctiva RGD PMID:20019361 RGD:8693314 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
keratoconjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Muc16 mucin 16, cell surface associated ISO mRNA:increased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:conjnctival epithelium: RGD PMID:15875531 RGD:8552813 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
keratoconjunctivitis sicca term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:conjunctiva, cornea RGD PMID:20007286 RGD:7483613 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Il6 interleukin 6 ISO associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Muc4 mucin 4, cell surface associated ISO RGD PMID:14507865 RGD:7349377 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:14507865 RGD:7349377 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Nrtn neurturin ISO RGD PMID:14507865 RGD:7349377 NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102
JBrowse link
G Tnf tumor necrosis factor ISO associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Laryngo Onycho Cutaneous Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
ClinVar Annotator: match by term: Laryngoonychocutaneous syndrome
ClinVar Annotator: match by OMIM:245660
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11810295 PMID:12915477 PMID:24033266 PMID:25363238 PMID:25741868 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
ClinVar Annotator: match by term: Corneal intraepithelial dyskeratosis and ectodermal dysplasia
OMIM
ClinVar
PMID:17377159 PMID:23349227 PMID:25050600 PMID:25741868 PMID:27662089 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
JBrowse link
pharyngoconjunctival fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein ISO RGD PMID:17876605 RGD:9491593 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
plasminogen deficiency type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plg plasminogen ISO ClinVar Annotator: match by term: Plasminogen deficiency, type I
ClinVar Annotator: match by OMIM:217090
ClinVar Annotator: match by synonym: Dysplasminogenemia
OMIM
ClinVar
PMID:659588 PMID:1427790 PMID:1986355 PMID:6216475 PMID:6238949 More... NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
ring dermoid of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Ring dermoid of cornea
ClinVar Annotator: match by OMIM:180550
OMIM
ClinVar
PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28166811 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
trachoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 no_association
severity
ISO protein:increased expression:tear
DNA:SNP:promoter:−1082G>A (human)
DNA:SNP:promoter:−819T>C, −592A>C (human)
DNA:SNP, haplotype:promoter:−1082G>A (human)
DNA:haplotype: :
RGD PMID:18628987 PMID:11023480 PMID:11023480 PMID:15789056 PMID:17947295 RGD:7365037, RGD:7365085, RGD:7365085, RGD:7365072, RGD:7365053 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:conjunctiva (human) RGD PMID:21911461 RGD:9068420 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian) RGD PMID:18824733 RGD:7364877 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP, haplotypes:promoter:−308G>A (human) RGD PMID:17330135 RGD:8548830 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Trachomatous Trichiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO mRNA:decreased expression:tarsal conjunctiva (human) RGD PMID:20375326 RGD:8552676 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        conjunctival disease 60
          Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
          Conjunctival Neoplasms + 2
          Laryngo Onycho Cutaneous Syndrome 1
          cicatricial pemphigoid 6
          conjunctival degeneration + 0
          conjunctival deposit + 0
          conjunctival vascular disease 0
          conjunctivitis + 46
          conjunctivochalasis 3
          ocular hyperemia 0
          pharyngoconjunctival fever 1
          pinguecula 0
          ring dermoid of cornea 1
          xerophthalmia 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            conjunctival disease 60
              Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
              Conjunctival Neoplasms + 2
              Laryngo Onycho Cutaneous Syndrome 1
              cicatricial pemphigoid 6
              conjunctival degeneration + 0
              conjunctival deposit + 0
              conjunctival vascular disease 0
              conjunctivitis + 46
              conjunctivochalasis 3
              ocular hyperemia 0
              pharyngoconjunctival fever 1
              pinguecula 0
              ring dermoid of cornea 1
              xerophthalmia 0
paths to the root