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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:cerebral venous thrombosis
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Accession:DOID:9001211 term browser browse the term
Definition:This disease involves formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
Synonyms:exact_synonym: CVT;   cerebral vein thrombosis;   thrombosis of cerebral vein


show annotations for term's descendants           Sort by:
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      cardiovascular system disease 4331
        vascular disease 3054
          thrombosis 143
            Venous Thrombosis 87
              cerebral venous thrombosis 2
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      cardiovascular system disease 4331
        vascular disease 3054
          Embolism and Thrombosis 164
            Thromboembolism 50
              Intracranial Embolism and Thrombosis 21
                intracranial thrombosis 20
                  cerebral venous thrombosis 2
paths to the root