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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:Right Ventricular Outflow Obstruction
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Accession:DOID:9007182 term browser browse the term
Definition:Occlusion of the outflow tract in the RIGHT VENTRICLE of the heart.
Synonyms:exact_synonym: Dynamic RVOT Obstruction;   Dynamic Right Ventricular Outflow Tract Obstruction;   RVOT Obstruction;   Right Ventricular Outflow Tract Obstruction
 primary_id: MESH:D000092243


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Right 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)
DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human)		 RGD PMID:30262811 PMID:30525309 RGD:401794414, RGD:401794416 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      cardiovascular system disease 5566
        heart disease 3445
          Ventricular Outflow Obstruction 448
            Right Ventricular Outflow Obstruction 1
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