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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 ISO DNA:polymorphism: :46A>G(human) RGD PMID:18159608 RGD:8548486 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8458210 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:serum,skin: RGD PMID:21676041 RGD:8657027 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype::190G>A(human) RGD PMID:23727176 RGD:8551831 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15721839 RGD:6893392 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human) RGD PMID:23727176 RGD:8551831 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum RGD PMID:22348297 RGD:6482310 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Urticaria ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fcer1a Fc epsilon receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 PMID:20485159 NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16433794 PMID:16433794 RGD:5490559 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hnmt histamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20485159 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il18 interleukin 18 ISO DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18204966 PMID:24490166 PMID:21692767 RGD:8655890, RGD:8655894 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:skin (human) RGD PMID:12653731 RGD:5508479 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 susceptibility ISO familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple RGD PMID:11687797 RGD:1600862 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human) RGD PMID:22722472 RGD:7829761 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20485159 PMID:20559009 RGD:5147574 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741 		JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:skin RGD PMID:12780723 RGD:8547524 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138248 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 PMID:19250144 PMID:20485159 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		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 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		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 ISO
ISS		 ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1
OMIM:120100		 OMIM
ClinVar
MouseDO		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		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 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO 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 chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Rapgefl1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371 		JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcg2 phospholipase C, gamma 2 ISO 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 chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		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 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Melkersson-Rosenthal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-CE16 RT1 class I, locus CE16 ISO protein:increased expression:peripheral blood (human) RGD PMID:32045706 RGD:329961316 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		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 ISO RGD PMID:22146561 RGD:6906895 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        vascular skin disease 200
          urticaria 42
            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 + 13
            familial cold autoinflammatory syndrome 1 1
            familial cold autoinflammatory syndrome 3 1
            physical urticaria + 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              vascular skin disease 200
                urticaria 42
                  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 + 13
                  familial cold autoinflammatory syndrome 1 1
                  familial cold autoinflammatory syndrome 3 1
                  physical urticaria + 0
paths to the root