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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 Coarctation
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Accession:DOID:9007908 term browser browse the term
Definition:A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion.
Synonyms:exact_synonym: Aorta Coarctation;   Aorta Coarctations;   Aorta Dominant Coarctation;   Aorta Dominant Coarctations;   Aortic Coarctations;   Coarctation of Aorta;   Coarctation of Aorta Dominant;   Coarctation of the Aorta
 related_synonym: MIDAORTIC SYNDROME
 primary_id: MESH:D001017;   RDO:0000050
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Aortic Coarctation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP mRNA, protein:increased expression:myocardium (rat) RGD PMID:18419956 RGD:12859271 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen treatment ISO DNA:polymorphism: :c.704T>C (human) RGD PMID:21450583 RGD:13432358 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Arse arylsulfatase E ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:12567415, PMID:25741868, PMID:30311386, PMID:32860008 NCBI chr 2:122,876,645...122,884,673
Ensembl chr 2:122,877,286...122,884,360
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Coarctation of the aorta ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Coarctation of the aorta ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:29483232 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:11139247, PMID:24748328, PMID:29483232 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19764075 RGD:4891157 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:1770531, PMID:6025371, PMID:9375928, PMID:10712197, PMID:10726756, PMID:10862084, PMID:12552569, PMID:15146469, PMID:15221447, PMID:16513807, PMID:16542390, PMID:16786042, PMID:16835897, PMID:16944272, PMID:17105749, PMID:17369502, PMID:18172006, PMID:19117870, PMID:19539839, PMID:19920235, PMID:20142468, PMID:21089071, PMID:22041710, PMID:22429592, PMID:22604720, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:24219125, PMID:24413922, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25741868, PMID:25951773, PMID:26178382, PMID:26758488, PMID:27170677, PMID:27322474, PMID:28213670, PMID:28492532, PMID:29290338, PMID:29483232 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:29483232 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:10482962, PMID:10931421, PMID:24385852, PMID:28492532, PMID:30311386 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
SHONE COMPLEX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Shone complex ClinVar PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      congenital heart disease 1074
        Aortic Coarctation 17
          Cardiac Septal Defects with Coarctation of the Aorta 0
          Endocardial Fibroelastosis and Coarctation of Abdominal Aorta 0
          PHACE Association 1
          SHONE COMPLEX 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Aortic Coarctation 17
                Cardiac Septal Defects with Coarctation of the Aorta 0
                Endocardial Fibroelastosis and Coarctation of Abdominal Aorta 0
                PHACE Association 1
                SHONE COMPLEX 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.