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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 Ventricle Hypoplasia
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Accession:DOID:9004971 term browser browse the term
Synonyms:exact_synonym: Isolated hypoplasia of the right ventricle;   Isolated right ventricular hypoplasia;   hypoplasia of the right ventricle;   right ventricular hypoplasia
 primary_id: MESH:C535682
 alt_id: OMIM:277200
For additional species annotation, visit the Alliance of Genome Resources.


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Right Ventricle Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:29800642 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      congenital heart disease 1074
        Right Ventricle Hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Right Ventricle Hypoplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.