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Pathways

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 Arch Syndromes
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Accession:DOID:9001364 term browser browse the term
Definition:Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots.
Synonyms:exact_synonym: Aortic Arch Syndrome
 primary_id: MESH:D001015



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Takayasu's arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO protein:decreased expression:serum RGD PMID:20579752 RGD:8695992 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Il2 interleukin 2 susceptibility
disease_progression
ISO DNA:polymorphism::-300G>T(human) RGD PMID:17002904 PMID:2574087 RGD:8663467, RGD:8693331 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Mlx MAX dimerization protein MLX susceptibility ISO DNA:SNP:cd: p.Q139R A>G (rs665268) (human)
DNA:missense mutation:cd: p.Q139R(rs665268) (human)
RGD PMID:30354298 PMID:23830516 RGD:401794441, RGD:401824641 NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23100088 RGD:8693315 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:23100088 RGD:8693315 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism,haplotypes::HLA-A*3001 (human) RGD PMID:17428358 RGD:401827100 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism,haplotype::DRB1*0802 (human) RGD PMID:17428358 RGD:401827100 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Aortic Arch Syndromes 8
        Takayasu's arteritis 8
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      cardiovascular system disease 5367
        vascular disease 3976
          artery disease 2792
            aortic disease 778
              Aortic Arch Syndromes 8
                Takayasu's arteritis 8
paths to the root