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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:Subvalvular Aortic Stenosis, Eisenberg Type
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Accession:DOID:9008195 term browser browse the term
Synonyms:primary_id: MESH:C538550;   RDO:0004490


show annotations for term's descendants           Sort by:
Subvalvular Aortic Stenosis, Eisenberg Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Subvalvular aortic stenosis, Eisenberg type ClinVar PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      cardiovascular system disease 5412
        heart disease 3329
          Ventricular Outflow Obstruction 443
            aortic valve stenosis 357
              subvalvular aortic stenosis 294
                Subvalvular Aortic Stenosis, Eisenberg Type 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      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
                    Subvalvular Aortic Stenosis, Eisenberg Type 1
paths to the root