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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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen treatment ISO DNA:polymorphism: :c.704T>C (human) RGD PMID:21450583 RGD:13432358 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:29483232 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:11139247 PMID:11180599 PMID:16199547 PMID:24748328 PMID:28492532 More... NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19764075 RGD:4891157 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:9536098 PMID:10712197 PMID:10862084 PMID:12552569 PMID:15146469 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:29483232 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		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 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      congenital heart disease 1191
        Aortic Coarctation 10
          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 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        Congenital Abnormalities 6706
          Cardiovascular Abnormalities 1253
            congenital heart disease 1191
              Aortic Coarctation 10
                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