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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:Arteritis
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Accession:DOID:9002564 term browser browse the term
Definition:INFLAMMATION of any ARTERIES.
Synonyms:exact_synonym: Arterial Inflammation;   Arteritides
 primary_id: MESH:D001167;   RDO:0004913
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:17139375 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
polyarteritis nodosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:23470165 RGD:9068463 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:15965421 RGD:8655581 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15965421 RGD:8655581 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Polyarteritis Nodosa, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:154,022,360...154,044,486
Ensembl chr 4:154,022,358...154,044,584
JBrowse link
G Bcl2l13 Bcl2-like 13 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985
JBrowse link
G Bid BH3 interacting domain death agonist ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451
JBrowse link
G Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277
JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Slc25a18 solute carrier family 25 member 18 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372
JBrowse link
G Tmem121b transmembrane protein 121B ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:28492532 NCBI chr 4:153,695,193...153,700,497
Ensembl chr 4:153,698,194...153,699,912
JBrowse link
Takayasu's arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO protein:decreased expression:serum RGD PMID:20579752 RGD:8695992 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Il2 interleukin 2 susceptibility
disease_progression
ISO DNA:polymorphism::-300G>T(human) RGD PMID:17002904 PMID:2574087 RGD:8663467, RGD:8693331 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23100088 RGD:8693315 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:23100088 RGD:8693315 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:15742444 RGD:1581162 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:polymorphism: :p.H131R (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il17a interleukin 17A severity
susceptibility
ISO mRNA, protein:increased expression:temporal artery (human)
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD PMID:22993227 PMID:24919468 RGD:8698666, RGD:9068454 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD PMID:20331879 PMID:20331879 RGD:8655865, RGD:8655865 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO protein:increased expression:temporal artery (human)
protein:increased activity:temporal artery
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:serum
RGD PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867 RGD:1580575, RGD:8657040, RGD:8547902, RGD:8547902, RGD:8547826 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)
RGD PMID:23946333 PMID:16078327 RGD:7829739, RGD:7829744 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 onset ISO associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:20064872 PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association
ISO DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)
RGD PMID:19531762 PMID:21586524 RGD:7777158, RGD:7777159 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      cardiovascular system disease 4755
        vascular disease 3602
          vasculitis 165
            Arteritis 44
              AIDS Arteritis, Central Nervous System 0
              Endarteritis 0
              Takayasu's arteritis 5
              polyarteritis nodosa + 16
              temporal arteritis 22
paths to the root