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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 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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism,haplotype::DRB1*0802 (human) RGD PMID:17428358 RGD:401827100 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO DNA:polymorphism,haplotype::HLA-B*5201 (human) RGD PMID:17428358 RGD:401827100 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO DNA:polymorphism,haplotypes::HLA-A*3001 (human) RGD PMID:17428358 RGD:401827100 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
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 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Mlx MAX-like protein X 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 chr11:100,978,116...100,983,033
Ensembl chr11:100,978,103...100,983,033
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23100088 RGD:8693315 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:23100088 RGD:8693315 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    syndrome 10278
      Aortic Arch Syndromes 9
        Takayasu's arteritis 9
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      cardiovascular system disease 4548
        vascular disease 3227
          artery disease 2099
            aortic disease 779
              Aortic Arch Syndromes 9
                Takayasu's arteritis 9
paths to the root