ONTOLOGY REPORT - ANNOTATIONS


Term:exophthalmos
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Accession:DOID:9370 term browser browse the term
Definition:Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye.
Synonyms:exact_synonym: Proptoses;   Proptosis
 primary_id: MESH:D005094;   RDO:0000279
For additional species annotation, visit the Alliance of Genome Resources.


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Graves Ophthalmopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9071200
RGD:9086875
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8549459
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7421511
RGD:7421523
RGD:7421521
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158124
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7794734
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548854
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364859
RGD:7365083
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655878
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:7794734
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:7387296
RGD:8549808
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8662939
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:7421521
RGD:8549554
G Il3 interleukin 3 JBrowse link 10 39,620,535 39,622,973 RGD:5686901
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:12911230
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8552818
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:7829763
G Scd stearoyl-CoA desaturase JBrowse link 1 264,159,966 264,173,061 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547756
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7365073
RGD:12904066
RGD:7794734
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8548662
RGD:8548673
Graves' disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686818
RGD:5686857
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:8548467
G Arid5b AT-rich interaction domain 5B JBrowse link 20 21,713,900 21,881,193 RGD:11554173
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 JBrowse link 14 107,592,336 107,617,189 RGD:11554173
G Btnl2 butyrophilin-like 2 JBrowse link 20 4,140,184 4,156,365 RGD:9685042
G C4a complement C4A JBrowse link 20 2,651,599 2,678,183 RGD:5688264
G C4b complement C4B (Chido blood group) JBrowse link 20 4,302,344 4,316,752 RGD:5688264
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068908
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8547766
RGD:8547778
RGD:8547769
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547747
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:2302000
RGD:11554173
RGD:11352245
RGD:7421517
RGD:7421515
RGD:7421507
RGD:7421505
RGD:2302001
RGD:1300388
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:5147671
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:9588624
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8693348
RGD:10045850
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662820
G Fkbp1b FKBP prolyl isomerase 1B JBrowse link 6 29,975,863 29,987,252 RGD:1580387
G Gc GC, vitamin D binding protein JBrowse link 14 20,267,023 20,302,577 RGD:5509883
RGD:11554173
RGD:7240710
RGD:5509886
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:8547807
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158121
RGD:8547702
RGD:8158124
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8142372
RGD:8157604
RGD:8157599
RGD:8142393
RGD:8142373
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548837
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:5686433
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364858
RGD:7365074
RGD:7365026
RGD:7364862
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:7829719
RGD:8549544
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:9068423
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655878
RGD:8655916
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7401177
RGD:7401207
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8662947
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549554
RGD:8549564
G Il3 interleukin 3 JBrowse link 10 39,620,535 39,622,973 RGD:5686901
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829719
RGD:7829750
G Il6r interleukin 6 receptor JBrowse link 2 189,196,180 189,255,987 RGD:7829750
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8693341
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:8548778
RGD:8548790
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387246
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657376
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484538
RGD:11554173
RGD:7829763
RGD:7829738
G Rnaset2 ribonuclease T2 JBrowse link 1 53,174,879 53,192,048 RGD:11554173
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:8547558
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7421572
RGD:7483568
G RT1-CE13 RT1 class I, locus CE13 RGD:7365094
RGD:7365110
RGD:7365118
RGD:7365112
RGD:7365098
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365065
RGD:7365089
RGD:7365073
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547709
RGD:8547756
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:7207875
G Stat6 signal transducer and activator of transcription 6 JBrowse link 7 70,946,228 70,963,542 RGD:7244137
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:8548606
RGD:8548645
RGD:8548644
RGD:8548643
RGD:8548630
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7365073
RGD:7394807
RGD:7394790
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547807
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8548654
RGD:11554173
RGD:7240710
RGD:8548669
RGD:8548665
RGD:8548664
RGD:8548663
RGD:8548661
RGD:8548657
RGD:8548656
RGD:8548655
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:1331525
RGD:8158053
RGD:8157632
RGD:8157628
RGD:8157624
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7483621
Raine Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:7240710
RGD:8554872
RGD:11560486

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      eye and adnexa disease 1995
        eye disease 1995
          orbital disease 62
            exophthalmos 60
              Graves' disease + 59
              Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
              Raine Syndrome 1
              Sanderson Fraser Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          eye and adnexa disease 1995
            eye adnexa disease 124
              orbital disease 62
                exophthalmos 60
                  Graves' disease + 59
                  Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                  Raine Syndrome 1
                  Sanderson Fraser Syndrome 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.