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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 9
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Accession:DOID:0110114 term browser browse the term
Definition:An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. (DO)
Synonyms:exact_synonym: ASD9;   atrial septal defect 9
 primary_id: OMIM:614475
 alt_id: RDO:9000139
For additional species annotation, visit the Alliance of Genome Resources.


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atrial heart septal defect 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrial septal defect 9 OMIM
ClinVar
PMID:20631719 PMID:25741868 PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      congenital heart disease 1077
        heart septal defect 133
          atrial heart septal defect 81
            atrial heart septal defect 9 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Cardiovascular Abnormalities 1134
            congenital heart disease 1077
              heart septal defect 133
                atrial heart septal defect 81
                  atrial heart septal defect 9 1
paths to the root