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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:Brachydactyly Type E, with Atrial Septal Defect, Type II
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Accession:DOID:9003888 term browser browse the term
Synonyms:primary_id: MESH:C566193
 alt_id: MIM:113301



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16187
    physical disorder 5216
      congenital heart disease 1386
        heart septal defect 220
          atrial heart septal defect 127
            atrial heart septal defect 2 1
              Brachydactyly Type E, with Atrial Septal Defect, Type II 0
Path 2
Term Annotations click to browse term
  disease 16187
    Developmental Disease 13929
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12951
        Congenital Abnormalities 7795
          Cardiovascular Abnormalities 1589
            congenital heart disease 1386
              heart septal defect 220
                atrial heart septal defect 127
                  atrial heart septal defect 2 1
                    Brachydactyly Type E, with Atrial Septal Defect, Type II 0
paths to the root