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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 97409
    physical disorder 7953
      congenital heart disease 2000
        heart septal defect 258
          atrial heart septal defect 155
            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 97409
    Developmental Disease 35157
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28640
        Congenital Abnormalities 15070
          Cardiovascular Abnormalities 2218
            congenital heart disease 2000
              heart septal defect 258
                atrial heart septal defect 155
                  atrial heart septal defect 2 1
                    Brachydactyly Type E, with Atrial Septal Defect, Type II 0
paths to the root