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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:intracranial thrombosis
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Accession:DOID:4193 term browser browse the term
Definition:Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.
Synonyms:exact_synonym: Brain Thrombosis;   Brain Thrombus;   Cerebral Thromboses;   Cerebral Thrombosis;   Cerebral Thrombus;   Intracranial Thromboses;   brain thromboses;   intracranial thrombus
 narrow_synonym: CVT;   cerebral venous thrombosis
 primary_id: MESH:D020767
 xref: ICD9CM:434.0;   MONDO:0002907
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
intracranial thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8678742 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032 		JBrowse link
G SERPINC1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201 		JBrowse link
G VWF von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452 		JBrowse link
carotid artery thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:17969370 RGD:2313859 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698
G ITGA2B integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr12:18,860,739...18,877,381
Ensembl chr12:18,860,739...18,877,381 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,514...16,752,292 		JBrowse link
G KLKB1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,622 		JBrowse link
G SERPIND1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099 		JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
cerebral venous thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebral venous thrombosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G GPX3 glutathione peroxidase 3 no_association ISO DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) RGD PMID:18096833 PMID:19095977 RGD:401827161 RGD:401827164 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
intracranial sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12269725 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G GPX3 glutathione peroxidase 3 no_association ISO DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human) RGD PMID:20946167 RGD:401827165 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
sagittal sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066 		JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172 		JBrowse link
G PROS1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      cardiovascular system disease 4329
        vascular disease 3053
          cerebrovascular disease 942
            intracranial thrombosis 20
              carotid artery thrombosis 10
              cerebral venous thrombosis 2
              intracranial sinus thrombosis + 6
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      cardiovascular system disease 4329
        vascular disease 3053
          Embolism and Thrombosis 164
            Thromboembolism 50
              Intracranial Embolism and Thrombosis 21
                intracranial thrombosis 20
                  carotid artery thrombosis 10
                  cerebral venous thrombosis 2
                  intracranial sinus thrombosis + 6
paths to the root