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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
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Accession:DOID:9006976 term browser browse the term
Definition:Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes.
Synonyms:exact_synonym: Erythemas
 primary_id: MESH:D004890;   RDO:0000388
For additional species annotation, visit the Alliance of Genome Resources.


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Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15108178 NCBI chr  X:98,731,109...98,841,067
Ensembl chr  X:109,206,964...109,310,914
JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 PMID:27028940 NCBI chr12:40,726,137...40,757,690 JBrowse link
G FERMT1 fermitin family member 1 ISO Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X RGD PMID:12668616 RGD:1600405 NCBI chr20:6,063,480...6,120,206
Ensembl chr20:5,856,287...5,902,251
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO OMIM NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105
JBrowse link
erythema infectiosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2B cyclin dependent kinase inhibitor 2B ISO associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter: RGD PMID:18384396 RGD:11252189 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
JBrowse link
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 chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MASP2 mannan binding lectin serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CFB complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G LOC100982859 patr class I histocompatibility antigen, B-2 alpha chain ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
JBrowse link
G LTA lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G TNF tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
erythrokeratodermia variabilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO DNA:mutations:cds:p.E227D,p.A44V(human) RGD PMID:25398053 RGD:11568612 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GJB3 gap junction protein beta 3 ISO DNA:missense mutation:exon:p.L135V (c.403C>G) (human)
DNA:missense mutations:cds:p.G12D, p.L209F (human)
DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)
DNA:missense mutation:exon:p.T202N (c.605C>A) (human)
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutation:cds:p.R42P (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.L209F (625C>T) (human)
DNA:missense mutation:exon:p.R42P (125G>C) (human)
RGD
CTD
PMID:9843209 PMID:10594760 PMID:10798362 PMID:15948974 PMID:16297190 PMID:21188847 PMID:22681493 PMID:25556823 RGD:11097171 RGD:11251416 RGD:12050153 RGD:12436729 RGD:12436731 RGD:12436734 RGD:12437067 RGD:1578480 NCBI chr 1:34,048,136...34,053,298 JBrowse link
G GJB4 gap junction protein beta 4 ISO DNA:missense mutation: :p.F137L (human)
DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
RGD PMID:11017804 PMID:12648223 PMID:23037955 RGD:12437072 RGD:1598970 RGD:1598971 NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr 1:34,048,136...34,053,298 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB4 gap junction protein beta 4 ISO OMIM NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 6:119,213,513...119,227,617 JBrowse link
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDSR 3-ketodihydrosphingosine reductase ISO OMIM NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292
JBrowse link
erythrokeratodermia variabilis et progressiva 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO OMIM NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
JBrowse link
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO DNA:missense mutation:exon:p.V30I (c.G88A) (human)
DNA:missense mutation:CDS:p.L34P (101T>C) (human)
RGD PMID:12019212 PMID:21564177 RGD:12050155 RGD:12436733 NCBI chr 1:34,048,136...34,053,298 JBrowse link
Keratolytic Winter Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSB cathepsin B ISO OMIM NCBI chr 8:7,333,498...7,359,264 JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO OMIM NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316
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 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:10,478,500...11,346,255
Ensembl chr10:10,793,682...11,330,504
JBrowse link
G CLU clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G COPS5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:63,586,062...63,605,213
Ensembl chr 8:65,247,950...65,266,511
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G CUL1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:140,428,442...140,531,136
Ensembl chr 7:152,908,303...153,011,254
JBrowse link
G CUL4A cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:94,350,484...94,409,183
Ensembl chr13:113,428,271...113,472,701
JBrowse link
G DERL1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:119,707,397...119,736,502
Ensembl chr 8:122,463,063...122,492,137
JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:37,493,854...38,085,555 JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:28689274 RGD:14700974 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100982859 patr class I histocompatibility antigen, B-2 alpha chain susceptibility ISO DNA:polymorphism:cds:HLA-B*5801 (human, Japanese)
CTD Direct Evidence: marker/mechanism
OMIM
RGD
CTD
PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19018717 PMID:19694795 PMID:19915237 PMID:20235791 PMID:20485159 PMID:21428768 PMID:25099164 RGD:7364874 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:34,798,880...34,963,823
Ensembl chr15:53,118,411...53,283,076
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NUCB1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr19:45,900,098...45,923,056
Ensembl chr19:54,832,426...54,855,962
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883
JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:57,906,934...57,911,551
Ensembl chr17:63,051,050...63,055,907
JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063
JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RBX1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:21,845,351...21,866,627
Ensembl chr22:39,941,405...39,962,175
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
JBrowse link
Sweet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEFV MEFV innate immuity regulator, pyrin ISO OMIM NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12771
    sensory system disease 4826
      skin disease 2527
        Erythema 55
          Annular Erythema 0
          Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 1
          Erythema Chronicum Migrans 0
          Erythema Induratum 0
          Hooft Disease 0
          Keratolytic Winter Erythema 1
          Sweet syndrome 3
          erythema infectiosum + 1
          erythema multiforme + 34
          erythema nodosum + 7
          erythrokeratodermia variabilis + 6
Path 2
Term Annotations click to browse term
  disease 12771
    disease of anatomical entity 12303
      nervous system disease 10063
        sensory system disease 4826
          skin disease 2527
            Erythema 55
              Annular Erythema 0
              Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 1
              Erythema Chronicum Migrans 0
              Erythema Induratum 0
              Hooft Disease 0
              Keratolytic Winter Erythema 1
              Sweet syndrome 3
              erythema infectiosum + 1
              erythema multiforme + 34
              erythema nodosum + 7
              erythrokeratodermia variabilis + 6
paths to the root