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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:erythema multiforme
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Accession:DOID:0050185 term browser browse the term
Definition:A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO)
Synonyms:primary_id: MESH:D004892
 xref: EFO:1000694;   GARD:6372


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erythema multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 antigen ISO RGD PMID:18050371 RGD:8547765 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd8a CD8 subunit alpha susceptibility ISO associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:172,721,528...172,722,516
Ensembl chr 1:172,721,528...172,722,608 		JBrowse link
G C1qa complement component 1, q subcomponent, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114 		JBrowse link
G C1qc complement component 1, q subcomponent, C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376 		JBrowse link
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:6,544,505...7,401,345
Ensembl chr 2:6,544,505...7,514,374 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:10,094,825...10,108,384
Ensembl chr 1:10,094,826...10,108,393 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:47,430,516...47,503,078
Ensembl chr 6:47,430,332...47,503,073 		JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:13,155,623...13,197,940
Ensembl chr 8:13,155,621...13,197,940 		JBrowse link
G Derl1 Der1-like domain family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:57,732,898...57,755,814
Ensembl chr15:57,732,898...57,755,844 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:20,274,677...20,792,523
Ensembl chr13:20,274,766...20,792,523 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) 		CTD
RGD		 PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 More... RGD:7365090 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16538176 PMID:21428769 PMID:23588310 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 susceptibility ISO DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) 		RGD PMID:19018717 PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772 		JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr17:56,426,678...56,428,946
Ensembl chr17:56,426,678...56,429,001 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mir18 microRNA 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr14:115,281,283...115,281,378
Ensembl chr14:115,281,283...115,281,378 		JBrowse link
G Nedd4 neural precursor cell expressed, developmentally down-regulated 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:72,569,613...72,657,133
Ensembl chr 9:72,569,628...72,657,134 		JBrowse link
G Nfkbiz nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta IAGP MouseDO NCBI chr16:55,631,740...55,659,018
Ensembl chr16:55,631,738...55,659,262 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:45,142,300...45,159,813
Ensembl chr 7:45,139,882...45,159,830 		JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:63,262,793...63,266,400
Ensembl chr 4:63,262,797...63,266,400 		JBrowse link
G Orm2 orosomucoid 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:63,280,543...63,284,114
Ensembl chr 4:63,280,686...63,284,115 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pml promyelocytic leukemia ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069 		JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		JBrowse link
G Psmc5 protease (prosome, macropain) 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:106,147,011...106,153,938
Ensembl chr11:106,146,980...106,153,946 		JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525 		JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vcp valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
G Vwf Von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    sensory system disease 7187
      skin disease 4180
        Erythema 77
          erythema multiforme 51
            Stevens-Johnson syndrome 46
Path 2
Term Annotations click to browse term
  disease 16269
    Pathological Conditions, Signs and Symptoms 12658
      Signs and Symptoms 10546
        Neurologic Manifestations 10203
          sensory system disease 7187
            skin disease 4180
              dermatitis 531
                bullous skin disease 170
                  vesiculobullous skin disease 156
                    erythema multiforme 51
                      Stevens-Johnson syndrome 46
paths to the root