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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
For additional species annotation, visit the Alliance of Genome Resources.


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aortic dissection term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO mRNA, protein:decreased expression:aorta wall (human) RGD PMID:23518852 RGD:42722606 NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic dissection
ClinVar Annotator: match by term: Acute aortic dissection
ClinVar PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 PMID:9452085 PMID:10633129 PMID:11143906 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:12203987 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16222657 PMID:16971892 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17679947 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19089573 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19618372 PMID:19839986 PMID:19863550 PMID:21895641 PMID:21932315 PMID:22772377 PMID:23506379 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25637381 PMID:25741868 PMID:25812041 PMID:25944730 PMID:26272055 PMID:26621581 PMID:26787436 PMID:27112580 PMID:27153395 PMID:27582083 PMID:28166811 PMID:28492532 PMID:28655553 PMID:28659821 PMID:29357934 PMID:31053375 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 PMID:9157944 PMID:9484998 PMID:10782930 PMID:10978268 PMID:12837857 PMID:16183066 PMID:16250003 PMID:17094996 PMID:17765246 PMID:18677035 PMID:19318025 PMID:20506408 PMID:21310417 PMID:21475731 PMID:21722902 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:25741868 PMID:27765764 PMID:28492532 PMID:29261184 PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Acute aortic dissection ClinVar PMID:26838787 PMID:30675029 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      cardiovascular system disease 4501
        vascular disease 3422
          artery disease 2388
            aortic disease 601
              aortic dissection 6
paths to the root