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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:xref: EFO:1000694;   GARD:6372;   MESH:D004892;   MONDO:0006545


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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 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		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 4:103,365,804...103,370,041
Ensembl chr 4:104,900,833...104,928,358 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:164,308,991...164,332,705 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		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 chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:85,373,219...85,374,195
Ensembl chr13:87,905,532...87,928,824 		JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:154,410,848...154,414,468 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:75,813,704...76,636,362 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:53,919,927...53,961,303 		JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:3,710,425...3,721,112 		JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:13,975,052...13,993,387 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:77,551,781...77,634,210
Ensembl chr 4:77,551,787...77,621,760 		JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr16:76,385,298...76,422,316
Ensembl chr16:83,086,921...83,124,457 		JBrowse link
G Derl1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:89,404,413...89,427,095
Ensembl chr 7:91,258,382...91,316,678 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:44,286,495...44,822,668
Ensembl chr17:48,982,188...49,518,159 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:163,859,916...163,865,574 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:167,373,924...167,401,518 		JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:947,516...949,773
Ensembl chr 9:1,034,679...1,037,337 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr20:12,767,138...12,791,222
Ensembl chr 4:134,041,774...134,042,121
Ensembl chr20:134,041,774...134,042,121 		JBrowse link
G Mir18a microRNA 18a ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr15:92,180,765...92,180,860
Ensembl chr15:98,587,984...98,588,079 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:82,264,649...82,349,633 		JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS MouseDO NCBI chr11:44,782,676...44,810,722
Ensembl chr11:58,251,721...58,279,767 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:95,968,325...95,999,183
Ensembl chr 1:105,104,793...105,135,837 		JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:81,788,509...81,791,661
Ensembl chr 5:81,788,395...81,791,667 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:67,523,164...67,576,083 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr11:230,597...311,288
Ensembl chr11:13,676,769...13,757,852 		JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:91,187,763...91,193,697
Ensembl chr10:91,686,295...91,695,921 		JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:249,264,985...249,409,846 		JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:176,335,437...176,407,650 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:114,870,972...114,881,191 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 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 chr20:3,314,830...3,318,106 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to | ClinVar Annotator: match by term: Susceptibility to severe cutaneous adverse reaction 		CTD
OMIM
ClinVar		 PMID:16538176 PMID:21428769 PMID:23588310 PMID:25741868 NCBI chr20:3,261,656...3,265,548 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        Erythema 76
          erythema multiforme 49
            Stevens-Johnson syndrome 44
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              dermatitis 529
                bullous skin disease 170
                  vesiculobullous skin disease 157
                    erythema multiforme 49
                      Stevens-Johnson syndrome 44
paths to the root