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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:ARTERIAL DISSECTION
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Accession:DOID:9001528 term browser browse the term
Synonyms:narrow_synonym: cervical artery dissection
 related_synonym: PREDISPOSITION TO DISSECTION
 primary_id: RDO:9005210
 xref: EFO:1000059;   NCI:C99704


show annotations for term's descendants           Sort by:
ARTERIAL DISSECTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Predisposition to dissection ClinVar PMID:25741868 PMID:28492532 PMID:34317605 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:28492532 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Phactr1 phosphatase and actin regulator 1 susceptibility ISO DNA:SNP:intron:g.13,011,943 >G (rs9349379) (human) RGD PMID:25420145 RGD:401900170 NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Predisposition to dissection ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      cardiovascular system disease 5544
        vascular disease 4024
          artery disease 2858
            ARTERIAL DISSECTION 9
paths to the root