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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:aortic dissection
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Accession:DOID:0080685 term browser browse the term
Definition:An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. (DO)
Synonyms:exact_synonym: acute aortic dissection;   acute aortic dissections;   aortic dissections
 narrow_synonym: ASCENDING AORTIC DISSECTION;   DESCENDING AORTIC DISSECTION
 xref: NCI:C50461


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aortic dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO protein:decreased expression:aorta (human) RGD PMID:28167124 RGD:155260287 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ameliorates ISO ClinVar Annotator: match by term: Descending aortic dissection
Apolipoprotein E knockout 		ClinVar
RGD		 PMID:25741868 PMID:33403385 RGD:156420156 NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Best3 bestrophin 3 ISS MouseDO NCBI chr 7:52,586,824...52,656,776
Ensembl chr 7:52,615,776...52,656,766 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO mRNA, protein:decreased expression:aorta wall (human) RGD PMID:23518852 RGD:42722606 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Ephb1 Eph receptor B1 ISO protein:increased phosphorylation:aorta (human) RGD PMID:30787994 RGD:155260309 NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Acute aortic dissection | ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Acute aortic dissection ClinVar PMID:26854927 PMID:28492532 PMID:29314435 NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
G H19 H19 imprinted maternally expressed transcript treatment ISO RNA:increased expression:thoracic aorta (human) RGD PMID:33403385 PMID:33403385 RGD:156420156, RGD:156420156 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:50,223,274...50,257,370
Ensembl chr 9:42,727,869...42,760,715 		JBrowse link
G Il18rap interleukin 18 receptor accessory protein ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,768,112...42,800,964
Ensembl chr 9:42,768,220...42,800,959 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il1rl2 interleukin 1 receptor-like 2 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:50,087,271...50,134,225
Ensembl chr 9:42,591,934...42,636,667 		JBrowse link
G Kif6 kinesin family member 6 ISO DNA:SNP: :p.W719R (rs20455) (human) RGD PMID:28097184 RGD:243048448 NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Acute aortic dissection ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mir143 microRNA 143 ISO miRNA:decreased expression:aorta (human) RGD PMID:28167124 PMID:30787994 RGD:155260287, RGD:155260309 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir145 microRNA 145 severity ISO miRNA:decreased expression:aorta (human) RGD PMID:28167124 PMID:30900421 PMID:30787994 RGD:155260287, RGD:155260292, RGD:155260309 NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mir193b microRNA 193b treatment ISO RGD PMID:33403385 RGD:156420156 NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO Apolipoprotein E knockout RGD PMID:33403385 RGD:156420156 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO Apolipoprotein E knockout RGD PMID:33403385 RGD:156420156 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO mRNA, protein:decreased expression:aorta wall (human) RGD PMID:24720418 RGD:155882452 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nox1 NADPH oxidase 1 ameliorates ISO RGD PMID:17502491 RGD:329955571 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Slc9a2 solute carrier family 9 member A2 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,932,001...43,014,447
Ensembl chr 9:42,931,346...43,014,444 		JBrowse link
G Slc9a4 solute carrier family 9 member A4 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:34409081 NCBI chr 9:42,825,334...42,879,729
Ensembl chr 9:42,825,064...42,879,422 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:20301312 PMID:25741868 PMID:28492532 PMID:29907982 PMID:30661052 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:aorta (human) RGD PMID:28167124 PMID:30787994 RGD:155260287, RGD:155260309 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Acute aortic dissection ClinVar PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More... NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		JBrowse link
G Tagln transgelin treatment ISO Apolipoprotein E knockout RGD PMID:33403385 RGD:156420156 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      cardiovascular system disease 5543
        vascular disease 4030
          artery disease 2862
            aortic disease 818
              aortic dissection 30
paths to the root