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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.


show annotations for term's descendants           Sort by:
 
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872714 NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
JBrowse link
G Il6 interleukin 6 ISO conjunctivochalasis;protein:increased expression:tear: RGD PMID:19158563 RGD:7829815 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO RGD PMID:22297496 RGD:7777184 NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
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 chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:19553621 RGD:8548840 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:conjunctiva RGD PMID:12682842 RGD:2307196 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:conjunctiva RGD PMID:11090473 RGD:6483824 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:18658092 RGD:6893389 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8766745 RGD:8547686 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma IDA
ISO
RGD PMID:12234900, PMID:16123425 RGD:8142386, RGD:8142391 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:9326725 RGD:7401198 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:10549671 RGD:8549802 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO associated with rhinitis; DNA:SNP: : rs2107356 (human) RGD PMID:20002627 RGD:4890389 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Irf1 interferon regulatory factor 1 IEP RGD PMID:14605445 RGD:5128787 NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase IDA protein:increased phosphorylation:T cell RGD PMID:14507881 RGD:1600225 NCBI chr 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO RGD PMID:17177679 RGD:7349351 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming severity ISO RGD PMID:17177679 RGD:7349351 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc4 mucin 4, cell surface associated severity ISO RGD PMID:17177679, PMID:11581187 RGD:7349351, RGD:7349400 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO protein:increased expression:body fluid or substance RGD PMID:21042565 RGD:6482725 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:16914468 RGD:11041889 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Staphylococcal Infections; RGD PMID:19358332 RGD:8552826 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:decreased expression:conjunctiva: RGD PMID:16023216 RGD:7794849 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnc tenascin C ISO DNA:SNPs: :multiple (human) RGD PMID:18305139 RGD:4889589 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Il3 interleukin 3 susceptibility ISO DNA:SNP: :rs40401(human) RGD PMID:23953855 RGD:13506915 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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 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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B ISO protein:increased expression:tear RGD PMID:3875643 RGD:7421524 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:22692452 RGD:9491751 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IDA RGD PMID:23378729 RGD:8657047 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Plg plasminogen ISO ligneous conjunctivitis,OMIM:217090;DNA:point mutation:exon:R216H,W597X RGD PMID:9242524 RGD:1601405 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Ptafr platelet-activating factor receptor IEP protein:increased expression:conjunctiva, eosinophil (rat) RGD PMID:15735601 RGD:9999205 NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:conjunctiva RGD PMID:20019361 RGD:8693314 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:conjunctiva RGD PMID:20019361 RGD:8693314 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 8:18,438,838...18,639,777 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:conjnctival epithelium: RGD PMID:15875531 RGD:8552813 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Il6 interleukin 6 ISO associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Muc4 mucin 4, cell surface associated ISO RGD PMID:14507865 RGD:7349377 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:14507865 RGD:7349377 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Nrtn neurturin ISO RGD PMID:14507865 RGD:7349377 NCBI chr 9:10,299,881...10,306,599
Ensembl chr 9:10,305,470...10,306,597
JBrowse link
G Tnf tumor necrosis factor ISO associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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, PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
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 chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
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 chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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, PMID:8392398, PMID:9242524, PMID:9375744, PMID:9834305, PMID:9858247, PMID:10233898, PMID:12850227, PMID:15269832, PMID:16849641, PMID:25741868, PMID:31064749 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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:28492532, PMID:32499604 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:conjunctiva (human) RGD PMID:21911461 RGD:9068420 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian) RGD PMID:18824733 RGD:7364877
G Tnf tumor necrosis factor ISO DNA:SNP, haplotypes:promoter:−308G>A (human) RGD PMID:17330135 RGD:8548830 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        conjunctival disease 59
          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 + 45
          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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            conjunctival disease 59
              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 + 45
              conjunctivochalasis 3
              ocular hyperemia 0
              pharyngoconjunctival fever 1
              pinguecula 0
              ring dermoid of cornea 1
              xerophthalmia 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.