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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:urticaria
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Accession:DOID:1555 term browser browse the term
Definition:A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. (DO)
Synonyms:exact_synonym: Hives;   urticarias
 primary_id: MESH:D014581
 xref: EFO:0005531;   ICD9CM:708.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
urticaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB2 adrenoceptor beta 2 susceptibility IAGP DNA:polymorphism: :46A>G(human) RGD PMID:18159608 RGD:8548486 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:8458210 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G BDNF brain derived neurotrophic factor IEP protein:increased expression:serum,skin: RGD PMID:21676041 RGD:8657027 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility IAGP DNA:polymorphism,haplotype::190G>A(human) RGD PMID:23727176 RGD:8551831 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP RGD PMID:15721839 RGD:6893392 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human) RGD PMID:23727176 RGD:8551831 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CRP C-reactive protein IEP protein:increased expression:serum RGD PMID:22348297 RGD:6482310 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G F12 coagulation factor XII IAGP ClinVar Annotator: match by term: Urticaria ClinVar PMID:16638441 PMID:25741868 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G F2 coagulation factor II, thrombin IEP protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G FCER1A Fc epsilon receptor Ia EXP CTD Direct Evidence: marker/mechanism CTD PMID:16502481 PMID:20485159 NCBI chr 1:159,283,575...159,308,202
Ensembl chr 1:159,289,714...159,308,224 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP
EXP		 DNA:deletion: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16433794 PMID:16433794 RGD:5490559 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP
EXP		 aspirin induced urticaria (AIU)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)		 CTD
RGD		 PMID:20485159 PMID:16502481 PMID:20559009 RGD:4144844, RGD:5147574 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNMT histamine N-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20485159 NCBI chr 2:137,964,473...138,016,364
Ensembl chr 2:137,964,020...138,016,364 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IL18 interleukin 18 IEP
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)		 CTD
RGD		 PMID:18204966 PMID:24490166 PMID:21692767 RGD:8655890, RGD:8655894 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Urticaria ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Urticaria ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MPO myeloperoxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G NGFR nerve growth factor receptor IEP protein:decreased expression:skin RGD PMID:12653731 RGD:5508479 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 susceptibility IAGP familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple RGD PMID:11687797 RGD:1600862 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human) RGD PMID:22722472 RGD:7829761 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SELE selectin E EXP CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705 		JBrowse link
G SOD2 superoxide dismutase 2 IEP protein:increased expression:skin RGD PMID:12780723 RGD:8547524 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19138248 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:12121561 PMID:19250144 PMID:20485159 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
dermatographia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRE2 adhesion G protein-coupled receptor E2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:14,724,171...14,778,560
Ensembl chr19:14,732,392...14,778,560 		JBrowse link
familial cold autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP12 NLR family pyrin domain containing 12 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 More... NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,792,139...53,824,403 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 IAGP
ISS		 ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1
OMIM:120100
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1		 ClinVar
MouseDO
OMIM		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYADM myeloid associated differentiation marker IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr19:53,865,628...53,876,435
Ensembl chr19:53,864,763...53,878,125 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP
EXP		 ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,792,139...53,824,403 		JBrowse link
G PRKCG protein kinase C gamma IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652 		JBrowse link
G RAPGEFL1 Rap guanine nucleotide exchange factor like 1 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar NCBI chr17:40,177,010...40,195,650
Ensembl chr17:40,177,010...40,195,656 		JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCO1 beta-carotene oxygenase 1 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr16:81,238,689...81,291,142
Ensembl chr16:81,238,689...81,291,142 		JBrowse link
G CMIP c-Maf inducing protein IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr16:81,444,808...81,711,762
Ensembl chr16:81,444,808...81,711,762 		JBrowse link
G GAN gigaxonin IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,884 		JBrowse link
G GCSH glycine cleavage system protein H IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395 		JBrowse link
G PKD1L2 polycystin 1 like 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr16:81,100,875...81,220,394
Ensembl chr16:81,100,875...81,220,370 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 More... NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 2:32,011,649...32,039,835
Ensembl chr 2:31,867,809...32,039,805 		JBrowse link
G MEMO1 mediator of cell motility 1 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 2:31,867,823...32,011,008
Ensembl chr 2:31,865,060...32,011,230 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP
ISS		 ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
OMIM:616115		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G SLC30A6 solute carrier family 30 member 6 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379 		JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938 		JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
Melkersson-Rosenthal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-A major histocompatibility complex, class I, A IEP protein:increased expression:peripheral blood (human) RGD PMID:32045706 RGD:329961316 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist IDA RGD PMID:22146561 RGD:6906895 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome		 ClinVar
OMIM		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
vibratory urticaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRE2 adhesion G protein-coupled receptor E2 IAGP ClinVar Annotator: match by term: Vibratory urticaria
ClinVar Annotator: match by term: ADGRE2-related condition
ClinVar Annotator: match by term: ADGRE2-related condition | ClinVar Annotator: match by term: Vibratory urticaria		 ClinVar
OMIM		 PMID:7294069 PMID:25741868 PMID:28492532 NCBI chr19:14,724,171...14,778,560
Ensembl chr19:14,732,392...14,778,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    sensory system disease 21132
      skin disease 11000
        vascular skin disease 583
          urticaria 81
            Aquagenic Urticaria 0
            Melkersson-Rosenthal syndrome 1
            Muckle-Wells syndrome 2
            Papular Urticaria 0
            Solar Urticaria 0
            Urticaria, Familial Localized Heat 0
            allergic urticaria 0
            chronic urticaria + 0
            familial cold autoinflammatory syndrome + 18
            familial cold autoinflammatory syndrome 1 1
            familial cold autoinflammatory syndrome 3 6
            physical urticaria + 1
Path 2
Term Annotations click to browse term
  disease 97458
    disease of anatomical entity 91107
      nervous system disease 53117
        Neurologic Manifestations 32033
          sensory system disease 21132
            skin disease 11000
              vascular skin disease 583
                urticaria 81
                  Aquagenic Urticaria 0
                  Melkersson-Rosenthal syndrome 1
                  Muckle-Wells syndrome 2
                  Papular Urticaria 0
                  Solar Urticaria 0
                  Urticaria, Familial Localized Heat 0
                  allergic urticaria 0
                  chronic urticaria + 0
                  familial cold autoinflammatory syndrome + 18
                  familial cold autoinflammatory syndrome 1 1
                  familial cold autoinflammatory syndrome 3 6
                  physical urticaria + 1
paths to the root