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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:autoimmune disease of eyes, ear, nose and throat
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Accession:DOID:0060030 term browser browse the term
Definition:An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)


show annotations for term's descendants           Sort by:
autoimmune uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir21 microRNA 21 ameliorates ISO RGD PMID:31228813 RGD:41404699 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
Graves ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car1 carbonic anhydrase 1 ISO RGD PMID:26034078 RGD:408425976 NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208 		JBrowse link
G Cat catalase treatment ISO protein:decreased activity:blood:
protein:increased activity:plasma:		 RGD PMID:20394549 PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association
severity		 ISO associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)
protein:increased expression:serum:		 RGD PMID:16893393 PMID:22663548 PMID:19734241 RGD:7421511, RGD:7421521, RGD:7421523 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum		 RGD PMID:21067483 PMID:11753760 RGD:7364859, RGD:7365083 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist severity
susceptibility		 ISO protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)		 RGD PMID:12186498 PMID:19702713 RGD:7387296, RGD:8549808 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il23r interleukin 23 receptor no_association
susceptibility		 ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)		 RGD PMID:22663548 PMID:18073300 RGD:7421521, RGD:8549554 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066 		JBrowse link
G Kif1a kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562 		JBrowse link
G Serpine1 serpin family E member 1 severity ISO associated with Graves Disease;protein:increased expression:tears (human) RGD PMID:22385289 RGD:8547756 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human)		 RGD PMID:15219383 PMID:8444271 PMID:16191343 RGD:7365073, RGD:7794734, RGD:12904066 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tshr thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:31705858 PMID:22673349 PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
sympathetic ophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*0404(human)
DNA:polymorphism: :HLA-DRB1*04(human)		 RGD PMID:11222331 PMID:9062965 RGD:7365091, RGD:7365100 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      autoimmune disease of eyes, ear, nose and throat 24
        Graves ophthalmopathy 22
        Mikulicz disease 0
        autoimmune uveitis 1
        sympathetic ophthalmia 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5757
        immune system disease 5027
          primary immunodeficiency disease 4407
            autoimmune disease 2368
              autoimmune disease of the nervous system 705
                autoimmune disease of eyes, ear, nose and throat 24
                  Graves ophthalmopathy 22
                  Mikulicz disease 0
                  autoimmune uveitis 1
                  sympathetic ophthalmia 1
paths to the root