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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:retinal vasculitis
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Accession:DOID:11563 term browser browse the term
Definition:A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. (DO)
Synonyms:primary_id: MESH:D031300
 xref: EFO:1001156;   ICD10CM:H35.06;   ICD9CM:362.18
For additional species annotation, visit the Alliance of Genome Resources.



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retinal vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO RGD PMID:19834028 RGD:11039401 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human) RGD PMID:16799040 RGD:9491394 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:19834028 RGD:11039401 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds HLA B-5 (human) RGD PMID:12608042 RGD:7364920 NCBI chr20:3,314,830...3,318,106 JBrowse link
Eales Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO DNA:SNP, haplotype:promoter RGD PMID:20720222 RGD:7364860 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:19585364 RGD:7401211 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 susceptibility ISO protein:increased expression:serum:
DNA:polymorphism:promoter:-174G>C(human)
RGD PMID:22025890 PMID:22025890 RGD:7829790, RGD:7829790 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) RGD PMID:9756436 RGD:7365108 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Tnf tumor necrosis factor severity
disease_progression
ISO DNA:SNP, haplotype:promoter
protein:increased expression:serum:
protein:increased expression:vitreous fluid:
RGD PMID:20720222 PMID:21139707 PMID:21394064 PMID:21849807 PMID:19585364 RGD:7364860, RGD:7387277, RGD:7387275, RGD:7394772, RGD:7401211 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      cardiovascular system disease 5519
        vascular disease 4023
          retinal vascular disease 213
            retinal vasculitis 7
              Eales Disease 5
Path 2
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7255
            eye disease 3731
              retinal disease 1396
                retinal vascular disease 213
                  retinal vasculitis 7
                    Eales Disease 5
paths to the root