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Aortic Arch Syndromes - Ontology Report - Rat Genome Database

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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
 xref: 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 chr20:4,152,758...4,155,956
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 2:121,932,968...121,937,672
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 chr10:86,519,517...86,524,607
Ensembl chr10:86,019,588...86,032,350 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23100088 RGD:8693315 NCBI chr 8:12,925,267...12,938,828
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 3:174,103,474...174,111,434
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 chr10:64,313,335...64,349,221
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 chr20:3,261,656...3,265,548
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Aortic Arch Syndromes 8
        Takayasu's arteritis 8
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      cardiovascular system disease 5541
        vascular disease 4028
          artery disease 2862
            aortic disease 818
              Aortic Arch Syndromes 8
                Takayasu's arteritis 8
paths to the root