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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:discrete subaortic stenosis
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Accession:DOID:5804 term browser browse the term
Definition:A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Synonyms:exact_synonym: Discrete Subaortic Stenoses
 primary_id: MESH:D021922
 xref: EFO:1000901
For additional species annotation, visit the Alliance of Genome Resources.


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discrete subaortic stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fads2 fatty acid desaturase 2 treatment IMP associated with Left Ventricular Hypertrophy, Cardiac Fibrosis RGD PMID:24284026 RGD:401901245 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          Ventricular Outflow Obstruction 443
            aortic valve stenosis 357
              subvalvular aortic stenosis 294
                discrete subaortic stenosis 1
                  Membranous Subaortic Stenosis 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        vascular disease 4012
          artery disease 2825
            aortic disease 792
              aortic valve disease 379
                aortic valve stenosis 357
                  subvalvular aortic stenosis 294
                    discrete subaortic stenosis 1
                      Membranous Subaortic Stenosis 0
paths to the root