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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:Left Ventricular Outflow Obstruction
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Accession:DOID:9007373 term browser browse the term
Definition:Occlusion of the outflow tract in the LEFT VENTRICLE of the heart.
Synonyms:exact_synonym: Dynamic LVOT Obstruction;   Dynamic Left Ventricular Outflow Tract Obstruction;   LVOT Obstruction;   Left Ventricular Outflow Tract Obstruction
 primary_id: MESH:D000092242

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Left Ventricular Outflow Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004955451:2,458,612...2,466,264
Ensembl chrNW_004955451:2,457,568...2,466,639 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      thoracic disease 3526
        heart disease 3002
          Ventricular Outflow Obstruction 413
            Left Ventricular Outflow Obstruction 1
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      respiratory system disease 4554
        thoracic disease 3526
          heart disease 3002
            Ventricular Outflow Obstruction 413
              Left Ventricular Outflow Obstruction 1
paths to the root