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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:hypersensitivity vasculitis
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Accession:DOID:9809 term browser browse the term
Definition:A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. (DO)
Synonyms:exact_synonym: hypersensitivity vasculitides
 primary_id: RDO:9003516
 xref: GARD:7851;   ICD9CM:446.2;   NCI:C35119
For additional species annotation, visit the Alliance of Genome Resources.



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allergic cutaneous vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3 colony stimulating factor 3 treatment IDA associated with Severe Congenital Neutropenia; RGD PMID:20100783 RGD:11039037 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme disease_progression IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGT angiotensinogen severity IAGP DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)
RGD PMID:16521052 PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G C3 complement C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
IEP
DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)
RGD PMID:26234573 PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD86 CD86 molecule treatment IDA protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HMOX1 heme oxygenase 1 IEP protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL27 interleukin 27 IEP mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" RGD PMID:33280050 RGD:126790550 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL5 interleukin 5 IEP protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G KNG1 kininogen 1 IEP protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility IAGP DNA:mutations:exons:
DNA:mutation:exon:p. E148Q (human)
DNA:mutations:cds:
RGD PMID:22451026 PMID:20602240 PMID:25232290 RGD:7349346, RGD:7349347, RGD:11531116 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G PLAT plasminogen activator, tissue type IEP protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    disease of anatomical entity 20683
      immune system disease 4769
        hypersensitivity reaction disease 161
          hypersensitivity reaction type III disease 27
            hypersensitivity vasculitis 17
              Henoch-Schoenlein purpura + 16
              allergic cutaneous vasculitis + 1
Path 2
Term Annotations click to browse term
  disease 22115
    disease of anatomical entity 20683
      Immune & Inflammatory Diseases 5422
        immune system disease 4769
          allergic disease 664
            hypersensitivity reaction type III disease 27
              hypersensitivity vasculitis 17
                Henoch-Schoenlein purpura + 16
                allergic cutaneous vasculitis + 1
paths to the root