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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:Atrial Septal Defect with Atrioventricular Conduction Defects
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Accession:DOID:9006886 term browser browse the term
Synonyms:exact_synonym: ASD with Atrioventricular Conduction Defects
 primary_id: MESH:C566238;   RDO:0014648
For additional species annotation, visit the Alliance of Genome Resources.



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Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO OMIM NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13847
    physical disorder 2997
      congenital heart disease 1027
        heart septal defect 120
          atrial heart septal defect 78
            Atrial Septal Defect with Atrioventricular Conduction Defects 1
              atrial heart septal defect 7 1
Path 2
Term Annotations click to browse term
  disease 13847
    Developmental Disease 10404
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8963
        Congenital Abnormalities 5440
          Cardiovascular Abnormalities 1084
            congenital heart disease 1027
              heart septal defect 120
                atrial heart septal defect 78
                  Atrial Septal Defect with Atrioventricular Conduction Defects 1
                    atrial heart septal defect 7 1
paths to the root