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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 IEP RGD PMID:18050371 RGD:8547765 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:18050371 RGD:8547765 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD8A CD8 subunit alpha susceptibility IEP associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G MASP2 MBL associated serine protease 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G APCS amyloid P component, serum EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865 		JBrowse link
G C1QA complement C1q A chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678 		JBrowse link
G C1QC complement C1q C chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110 		JBrowse link
G CAV1 caveolin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CFHR1 complement factor H related 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CFP complement factor properdin EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305 		JBrowse link
G CLU clusterin IEP mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G COPS5 COP9 signalosome subunit 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:67,043,079...67,062,133
Ensembl chr 8:67,043,079...67,083,783 		JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CUL1 cullin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:148,697,756...148,801,110
Ensembl chr 7:148,697,914...148,801,110 		JBrowse link
G CUL4A cullin 4A EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:113,208,193...113,267,108
Ensembl chr13:113,208,193...113,267,108 		JBrowse link
G DERL1 derlin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:123,013,170...123,042,302
Ensembl chr 8:123,013,170...123,042,302 		JBrowse link
G ELMO1 engulfment and cell motility 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:36,852,906...37,449,326
Ensembl chr 7:36,852,906...37,449,223 		JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FBXO6 F-box protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:11,664,200...11,674,354
Ensembl chr 1:11,664,200...11,674,354 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:28689274 RGD:14700974 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP
EXP 		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 chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP
EXP 		DNA:polymorphism:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
CTD Direct Evidence: marker/mechanism 		CTD
OMIM
RGD		 PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 More... RGD:7364874, RGD:7365090 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-C major histocompatibility complex, class I, C EXP CTD Direct Evidence: marker/mechanism CTD PMID:19629158 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398 		JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G LBP lipopolysaccharide binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013 		JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr19:4,536,402...4,540,036
Ensembl chr19:4,536,402...4,540,036 		JBrowse link
G MIF macrophage migration inhibitory factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MIR18A microRNA 18a EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:91,350,751...91,350,821
Ensembl chr13:91,350,751...91,350,821 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:55,826,917...55,993,612
Ensembl chr15:55,826,922...55,993,660 		JBrowse link
G NFKBIZ NFKB inhibitor zeta ISS MouseDO NCBI chr 3:101,827,990...101,861,022
Ensembl chr 3:101,827,991...101,861,022 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NUCB1 nucleobindin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr19:48,900,312...48,923,372
Ensembl chr19:48,900,050...48,923,473 		JBrowse link
G ORM1 orosomucoid 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:114,323,098...114,326,479
Ensembl chr 9:114,323,098...114,326,479 		JBrowse link
G ORM2 orosomucoid 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:114,329,869...114,333,251
Ensembl chr 9:114,329,869...114,333,251 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PML PML nuclear body scaffold EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G PROS1 protein S EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:63,827,431...63,832,019
Ensembl chr17:63,827,152...63,832,026 		JBrowse link
G PTGER3 prostaglandin E receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816 		JBrowse link
G PTGIS prostaglandin I2 synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RBX1 ring-box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:40,951,378...40,973,309
Ensembl chr22:40,951,347...40,973,309 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G VCP valosin containing protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VWF von Willebrand factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151016
    sensory system disease 27303
      skin disease 13621
        Erythema 146
          erythema multiforme 115
            Stevens-Johnson syndrome 110
Path 2
Term Annotations click to browse term
  disease 151016
    Pathological Conditions, Signs and Symptoms 70344
      Signs and Symptoms 46168
        Neurologic Manifestations 38539
          sensory system disease 27303
            skin disease 13621
              dermatitis 1360
                bullous skin disease 310
                  vesiculobullous skin disease 256
                    erythema multiforme 115
                      Stevens-Johnson syndrome 110
paths to the root