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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 vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.
Synonyms:exact_synonym: Hives;   Urticarias
 primary_id: MESH:D014581;   RDO:0002247
 xref: ICD9CM:708.8
For additional species annotation, visit the Alliance of Genome Resources.


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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 chrNW_004936504:5,985,407...5,987,453 JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chrNW_004936554:7,807,914...7,848,691 JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:serum,skin: RGD PMID:21676041 RGD:8657027 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15721839 RGD:6893392 NCBI chrNW_004936596:223,660...224,739 JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hives ClinVar PMID:16638441 PMID:25741868 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G Fcer1a Fc fragment of IgE receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 PMID:20485159 NCBI chrNW_004936740:1,201,370...1,206,871 JBrowse link
G Hnmt histamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20485159 NCBI chrNW_004936469:38,125,877...38,166,429 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
CTD
RGD
PMID:18204966 PMID:21692767 PMID:24490166 RGD:8655890 RGD:8655894 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chrNW_004936476:25,730,800...25,741,089 JBrowse link
G LOC101969640 C-reactive protein ISO protein:increased expression:serum RGD PMID:22348297 RGD:6482310 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chrNW_004936490:4,809,773...4,819,070 JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:skin RGD PMID:12653731 RGD:5508479 NCBI chrNW_004936490:12,038,500...12,057,257 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 chrNW_004936864:709,693...732,119 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 chrNW_004936690:2,180,804...2,232,869 JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chrNW_004936481:16,915,203...16,921,840 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hives ClinVar PMID:16638441 PMID:25741868 NCBI chrNW_004936597:1,667,700...1,684,533 JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:skin RGD PMID:12780723 RGD:8547524 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138248 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 PMID:19250144 PMID:20485159 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chrNW_004936748:785,491...802,791 JBrowse link
acquired angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chrNW_004936472:505,751...515,375 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to ClinVar PMID:1551674 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2503817 More... NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chrNW_004936578:3,255,335...3,281,296 JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9734886 PMID:23406939 NCBI chrNW_004936581:4,911,403...4,924,484 JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 susceptibility ISO ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16175507 PMID:20625347 PMID:21898657 NCBI chrNW_004936479:1,773,797...1,883,606 JBrowse link
angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO DNA:missense:exon:T309K,T309R
ClinVar Annotator: match by term: Quincke edema
RGD
ClinVar
PMID:16638441 PMID:25741868 RGD:1601106 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15784113 NCBI chrNW_004936476:25,730,800...25,741,089 JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16184341 PMID:18453163 PMID:20547619 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Serping1 serpin family G member 1 susceptibility ISO DNA:mutations:exon
ClinVar Annotator: match by term: Angioedema
RGD
ClinVar
PMID:12402344 RGD:1600545 NCBI chrNW_004936581:4,911,403...4,924,484 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Quincke edema ClinVar PMID:16638441 PMID:25741868 NCBI chrNW_004936597:1,667,700...1,684,533 JBrowse link
G Sytl2 synaptotagmin like 2 ISO ClinVar Annotator: match by term: Angioedema ClinVar PMID:28327206 NCBI chrNW_004936498:13,577,839...13,681,782 JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16175507 NCBI chrNW_004936479:1,773,797...1,883,606 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 OMIM NCBI chrNW_004936864:709,693...732,119 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 OMIM NCBI chrNW_004936475:29,248,533...29,377,335 JBrowse link
hereditary angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII disease_progression ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Hereditary Angioedema
ClinVar Annotator: match by term: Angioedemas, Hereditary
DNA:deletion mutations:exon,intron:
CTD
ClinVar
RGD
PMID:9129025 PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 More... RGD:11041802 RGD:11565081 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chrNW_004936472:505,751...515,375 JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chrNW_004936578:3,255,335...3,281,296 JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33799813 NCBI chrNW_004936489:11,775,243...11,808,482 JBrowse link
G Serping1 serpin family G member 1 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Hereditary Angioedema
CTD
ClinVar
RGD
PMID:9734886 PMID:15356570 PMID:19477491 PMID:22800873 PMID:23406939 More... RGD:8661260 RGD:8661265 NCBI chrNW_004936581:4,911,403...4,924,484 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary Angioedema
ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Angioedemas, Hereditary
ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chrNW_004936597:1,667,700...1,684,533 JBrowse link
Hereditary Angioedema 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plg plasminogen ISO OMIM NCBI chrNW_004936489:11,775,243...11,808,482 JBrowse link
Hereditary Angioedema 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 ISO OMIM NCBI chrNW_004936470:37,105,469...37,328,183 JBrowse link
Hereditary Angioedema 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng1 kininogen 1 ISO OMIM NCBI chrNW_004936578:3,255,335...3,281,296 JBrowse link
Hereditary Angioedema 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myof myoferlin ISO OMIM NCBI chrNW_004936601:1,489,252...1,640,536 JBrowse link
Hereditary Angioedema 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO OMIM
hereditary angioedema type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:3184114 NCBI chrNW_004936709:731,211...742,583 JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33799813 NCBI chrNW_004936489:11,775,243...11,808,482 JBrowse link
G Serping1 serpin family G member 1 ISO OMIM NCBI chrNW_004936581:4,911,403...4,924,484 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chrNW_004936597:1,667,700...1,684,533 JBrowse link
hereditary angioedema type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 ISO ClinVar Annotator: match by term: Hereditary angioedema, type III ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:37,105,469...37,328,183 JBrowse link
G F12 coagulation factor XII ISO OMIM NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION ClinVar PMID:33114181 NCBI chrNW_004936489:11,775,243...11,808,482 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioedema, type III
ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE
ClinVar Annotator: match by term: ESTROGEN-RELATED HAE
ClinVar PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 More... NCBI chrNW_004936597:1,667,700...1,684,533 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 chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO OMIM NCBI chrNW_004936864:709,693...732,119 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13024
    sensory system disease 5014
      skin disease 2632
        urticaria 37
          Aquagenic Urticaria 0
          Muckle-Wells syndrome 2
          Papular Urticaria 0
          Urticaria, Familial Localized Heat 0
          allergic urticaria 0
          angioedema + 16
          chronic urticaria + 0
          familial cold autoinflammatory syndrome 1 1
          familial cold autoinflammatory syndrome 3 1
          physical urticaria + 0
Path 2
Term Annotations click to browse term
  disease 13024
    disease of anatomical entity 12705
      Immune & Inflammatory Diseases 3228
        immune system disease 2774
          allergic disease 520
            Immediate Hypersensitivity 407
              urticaria 37
                Aquagenic Urticaria 0
                Muckle-Wells syndrome 2
                Papular Urticaria 0
                Urticaria, Familial Localized Heat 0
                allergic urticaria 0
                angioedema + 16
                chronic urticaria + 0
                familial cold autoinflammatory syndrome 1 1
                familial cold autoinflammatory syndrome 3 1
                physical urticaria + 0
paths to the root