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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:IgA vasculitis
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Accession:DOID:11123 term browser browse the term
Definition:A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. (DO)
Synonyms:exact_synonym: Anaphylactoid Purpura;   HSP;   Hemorrhagic Vasculitis;   Henoch Purpura;   Henoch Schonlein Purpura;   Henoch Schonlein Purpuras;   Henoch-Schoenlein purpura;   Henoch-Scholein purpura;   Henoch-Schönlein purpura;   IgAV;   Nonthrombocytopenic Purpura;   Nonthrombopenic Purpura;   Purpura Hemorrhagica;   allergic purpura;   autoimmune purpura;   immunoglobulin A vasculitis;   rheumatoid purpura
 narrow_synonym: Henoch-Schoenlein purpura nephritis
 xref: EFO:1000965;   GARD:8204;   ICD10CM:D69.0;   ICD9CM:287.0;   MESH:D011695;   MONDO:0019167;   NCI:C34963;   ORDO:761
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
IgA vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human) 		RGD PMID:16521052 PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human) 		RGD PMID:26234573 PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il27 interleukin 27 ISO mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" RGD PMID:33280050 RGD:126790550 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003 		JBrowse link
G Kng1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:91,317,355...91,340,148 		JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:91,418,470...91,440,841
Ensembl chr11:91,414,207...91,441,259 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO 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 chr10:12,288,514...12,303,337
Ensembl chr10:12,293,782...12,303,333 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      hematopoietic system disease 3839
        blood coagulation disease 1444
          purpura 58
            IgA vasculitis 17
              Vascular Purpura 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          blood coagulation disease 1444
            hemorrhagic disease 1397
              vascular hemostatic disease 488
                IgA vasculitis 17
                  Vascular Purpura 0
paths to the root