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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.



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 chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8458210 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,858,975...90,907,094
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:serum,skin: RGD PMID:21676041 RGD:8657027 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype::190G>A(human) RGD PMID:23727176 RGD:8551831 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:15721839 RGD:6893392 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 ISO DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human) RGD PMID:23727176 RGD:8551831 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:serum RGD PMID:22348297 RGD:6482310 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hives ClinVar PMID:16638441 PMID:25741868 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FCER1A Fc epsilon receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 PMID:20485159 NCBI chr 4:91,118,867...91,125,448
Ensembl chr 4:91,118,879...91,125,437
JBrowse link
G HNMT histamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20485159 NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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 chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G NGFR nerve growth factor receptor ISO protein:decreased expression:skin RGD PMID:12653731 RGD:5508479 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,357
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 chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
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 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 4:81,289,061...81,299,657 JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hives ClinVar PMID:16638441 PMID:25741868 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:skin RGD PMID:12780723 RGD:8547524 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138248 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 PMID:19250144 PMID:20485159 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
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 chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
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 chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376
JBrowse link
G SERPING1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9734886 PMID:23406939 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
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 chr  X:106,333,785...106,363,412
Ensembl chr  X:106,333,825...106,363,641
JBrowse link
angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8458210 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
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 chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16184341 PMID:18453163 PMID:20547619 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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 chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Quincke edema ClinVar PMID:16638441 PMID:25741868 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SYTL2 synaptotagmin like 2 ISO ClinVar Annotator: match by term: Angioedema ClinVar PMID:28327206 NCBI chr 9:19,617,287...19,763,439
Ensembl chr 9:19,617,291...19,734,636
JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16175507 NCBI chr  X:106,333,785...106,363,412
Ensembl chr  X:106,333,825...106,363,641
JBrowse link
dermatographia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100516957 adhesion G protein-coupled receptor E2-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:63,853,304...63,900,460 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 chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
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 chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
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 ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Hereditary Angioedema
ClinVar Annotator: match by term: Angioedemas, Hereditary
CTD Direct Evidence: marker/mechanism
DNA:deletion mutations:exon,intron:
RGD
ClinVar
CTD
PMID:9129025 PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 More... RGD:11041802 RGD:11565081 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376
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 chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
JBrowse link
G SERPING1 serpin family G member 1 treatment ISO ClinVar Annotator: match by term: Hereditary Angioedema
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
ClinVar
CTD
PMID:9734886 PMID:15356570 PMID:19477491 PMID:22800873 PMID:23406939 More... RGD:8661260 RGD:8661265 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
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 chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
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 chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
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 chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960
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 chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376
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 chr14:104,770,514...104,941,212
Ensembl chr14:104,767,783...104,941,357
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 NCBI chr 3:40,029,927...40,038,803
Ensembl chr 3:40,017,161...40,041,393
JBrowse link
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 chr 5:63,670,309...63,681,466 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 chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
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 chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
JBrowse link
G SERPING1 serpin family G member 1 ISO OMIM NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
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 chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
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 chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960
JBrowse link
G F12 coagulation factor XII ISO OMIM NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION ClinVar PMID:33114181 NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
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 chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
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
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
JBrowse link
vibratory urticaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100516957 adhesion G protein-coupled receptor E2-like ISO OMIM NCBI chr 2:63,853,304...63,900,460 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13633
    sensory system disease 5164
      skin disease 2708
        urticaria 40
          Aquagenic Urticaria 0
          Muckle-Wells syndrome 2
          Papular Urticaria 0
          Urticaria, Familial Localized Heat 0
          allergic urticaria 0
          angioedema + 17
          chronic urticaria + 0
          familial cold autoinflammatory syndrome 1 1
          familial cold autoinflammatory syndrome 3 1
          physical urticaria + 1
Path 2
Term Annotations click to browse term
  disease 13633
    disease of anatomical entity 13301
      Immune & Inflammatory Diseases 3373
        immune system disease 2869
          allergic disease 549
            Immediate Hypersensitivity 422
              urticaria 40
                Aquagenic Urticaria 0
                Muckle-Wells syndrome 2
                Papular Urticaria 0
                Urticaria, Familial Localized Heat 0
                allergic urticaria 0
                angioedema + 17
                chronic urticaria + 0
                familial cold autoinflammatory syndrome 1 1
                familial cold autoinflammatory syndrome 3 1
                physical urticaria + 1
paths to the root