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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:Graves ophthalmopathy
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Accession:DOID:0081120 term browser browse the term
Definition:An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. (DO)
Synonyms:exact_synonym: Congestive Ophthalmopathies;   Congestive Ophthalmopathy;   Dysthyroid Ophthalmopathies;   Dysthyroid Ophthalmopathy;   Edematous Ophthalmopathies;   Edematous Ophthalmopathy;   Infiltrative Ophthalmopathies;   Infiltrative Ophthalmopathy;   Myopathic Ophthalmopathies;   Myopathic Ophthalmopathy;   Thyroid Associated Ophthalmopathies;   Thyroid Associated Ophthalmopathy;   Thyroid Eye Disease
 narrow_synonym: Graves' Orbitopathy;   Thyroid-Associated Orbitopathy
 primary_id: MESH:D049970
 alt_id: DOID:9000008


show annotations for term's descendants           Sort by:
Graves ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase treatment ISO protein:decreased activity:blood:
protein:increased activity:plasma:		 RGD PMID:15158621 PMID:20394549 RGD:9071200 RGD:9086875 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association
severity		 ISO protein:increased expression:serum:
associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)		 RGD PMID:16893393 PMID:19734241 PMID:22663548 RGD:7421511 RGD:7421521 RGD:7421523 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum		 RGD PMID:11753760 PMID:21067483 RGD:7364859 RGD:7365083 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		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 chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL23R interleukin 23 receptor no_association
susceptibility		 ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)		 RGD PMID:18073300 PMID:22663548 RGD:7421521 RGD:8549554 NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815 		JBrowse link
G IL3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213 		JBrowse link
G KIF1A kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		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 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830 		JBrowse link
G SCD stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776 		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 chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human)		 RGD PMID:8444271 PMID:15219383 PMID:16191343 RGD:12904066 RGD:7365073 RGD:7794734 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TSHR thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20237164 PMID:22673349 PMID:31705858 RGD:8548662 RGD:8548673 NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      autoimmune disease of eyes, ear, nose and throat 22
        Graves ophthalmopathy 21
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              eye adnexa disease 99
                orbital disease 99
                  Graves' disease 65
                    Graves ophthalmopathy 21
paths to the root