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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:optic neuritis
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Accession:DOID:1210 term browser browse the term
Definition:Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).
Synonyms:exact_synonym: Anterior Optic Neuritis;   Neuropapillitis;   Optic Neuritides;   anterior optic neuritides;   neuropapillitides;   posterior optic neuritides;   posterior optic neuritis
 primary_id: MESH:D009902
 xref: GARD:7320;   ICD10CM:H46;   ICD9CM:377.3;   NCI:C84950
For additional species annotation, visit the Alliance of Genome Resources.


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optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:23024849, PMID:22157536 RGD:8696036, RGD:9685553 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
G Cat catalase treatment ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:11966770 RGD:8551840 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve RGD PMID:20151287 RGD:5686855 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO
IDA
RGD PMID:22157536, PMID:23860028 RGD:9685553, RGD:9685554 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
G Nefh neurofilament heavy severity ISO protein:increased expression:serum: RGD PMID:29085182, PMID:15258226 RGD:27226813, RGD:27226814 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:9006417 RGD:7483596 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 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:22167100 RGD:7365050 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466, PMID:17251466 RGD:8158052, RGD:8158052 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
autoimmune optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy severity ISO RGD PMID:23316360 RGD:27226805 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
cystoid macular edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)
RGD PMID:19118698, PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kdr kinase insert domain receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) RGD PMID:15333482 RGD:7775044 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
associated with Diabetes Mellitus, Experimental; human protein in a rat model
RGD PMID:20714746, PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:28492532, PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
CTD PMID:20577866, PMID:23411880, PMID:17505145 RGD:8549772, RGD:8655594 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD PMID:18509235, PMID:24070676, PMID:16087714, PMID:22271321, PMID:18420727, PMID:23116879, PMID:23890015, PMID:23995423, PMID:20047900 RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Cd59 CD59 molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nefh neurofilament heavy ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482, PMID:27049564 RGD:7421588, RGD:11530523 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 (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712, PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        optic nerve disease 240
          optic neuritis 41
            acute retrobulbar neuritis 0
            autoimmune optic neuritis 1
            neuromyelitis optica 12
            nutritional optic neuropathy 0
            optic papillitis 0
            retinal edema + 22
            toxic optic neuropathy 0
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            cranial nerve disease 472
              optic nerve disease 240
                optic neuritis 41
                  acute retrobulbar neuritis 0
                  autoimmune optic neuritis 1
                  neuromyelitis optica 12
                  nutritional optic neuropathy 0
                  optic papillitis 0
                  retinal edema + 22
                  toxic optic neuropathy 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.