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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 heart septal defect 7
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Accession:DOID:0110112 term browser browse the term
Definition:An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: ASD with or without atrioventricular conduction defects;   ASD7;   ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS;   atrial septal defect 7, with or without AV conduction defects;   atrial septal defect-atrioventricular conduction defects syndrome
 primary_id: OMIM:108900
 alt_id: RDO:0007890
 xref: ORDO:1479
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      congenital heart disease 1074
        heart septal defect 151
          atrial heart septal defect 95
            atrial heart septal defect 7 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              heart septal defect 151
                atrial heart septal defect 95
                  Atrial Septal Defect with Atrioventricular Conduction Defects 1
                    atrial heart septal defect 7 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.