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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:temporal arteritis
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Accession:DOID:13375 term browser browse the term
Definition:A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. (DO)
Synonyms:exact_synonym: Giant Cell Aortitis;   Giant Cell Aortitis, Horton's;   Giant Cell Arteritis;   Horton Disease;   Horton Giant Cell Arteritis;   Horton's Disease;   Horton's Giant Cell Arteritis;   Hortons Disease;   Juvenile cranial arteritis;   cranial arteritides;   cranial arteritis;   giant cell aortic arteritis;   giant cell aortitides;   giant cell arteritides;   juvenile giant cell arteritis;   juvenile polymyalgia rheumatica;   juvenile temporal arteritides;   juvenile temporal arteritis;   temporal arteritides
 primary_id: MESH:D013700
 alt_id: MESH:C538533;   MIM:187360
 xref: EFO:1001209;   ICD9CM:446.5;   NCI:C35065;   ORDO:397
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr13:85,135,384...85,175,178
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 3:124,406,783...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 expression:serum
DNA:SNP:CDS:rs2250889 (human)
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
protein:increased activity:temporal artery		 RGD PMID:15998676 PMID:8843867 PMID:18512818 PMID:18512818 PMID:17502363 RGD:1580575, RGD:8547826, RGD:8547902, RGD:8547902, RGD:8657040 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 19051
    sensory system disease 7253
      skin disease 4197
        vascular skin disease 248
          temporal arteritis 22
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Immune & Inflammatory Diseases 5741
        immune system disease 4930
          primary immunodeficiency disease 4306
            autoimmune disease 2365
              autoimmune disease of the nervous system 704
                autoimmune disease of central nervous system 385
                  temporal arteritis 22
paths to the root