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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:central nervous system vasculitis
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Accession:DOID:525 term browser browse the term
Definition:Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)
Synonyms:exact_synonym: CNS Vasculitis;   Cerebral Vasculitis;   Granulomatous Arteritis;   central nervous system angiitis;   cerebral angiitis;   postzoster arteritis;   primary CNS vasculitis;   primary central nervous system vasculitis;   secondary CNS vasculitis
 primary_id: MESH:D020293
 alt_id: RDO:0000266
 xref: NCI:C84622
For additional species annotation, visit the Alliance of Genome Resources.



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Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        autoimmune disease of the nervous system 556
          central nervous system vasculitis 25
            AIDS Arteritis, Central Nervous System 0
            Familial Granulomatous Arteritis with Juvenile Polyarthritis 0
            Lupus Vasculitis, Central Nervous System 4
            Primary Angiitis of the Central Nervous System 0
            cerebral arteritis 0
            granulomatous angiitis 0
            temporal arteritis 22
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Immune & Inflammatory Diseases 5045
        immune system disease 4371
          primary immunodeficiency disease 3717
            autoimmune disease 2283
              autoimmune disease of the nervous system 556
                central nervous system vasculitis 25
                  AIDS Arteritis, Central Nervous System 0
                  Familial Granulomatous Arteritis with Juvenile Polyarthritis 0
                  Lupus Vasculitis, Central Nervous System 4
                  Primary Angiitis of the Central Nervous System 0
                  cerebral arteritis 0
                  granulomatous angiitis 0
                  temporal arteritis 22
paths to the root