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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


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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 IAGP
EXP		 ClinVar Annotator: match by term: Atrial septal defect 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20631719 PMID:25741868 PMID:28492532 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    physical disorder 7158
      congenital heart disease 1900
        heart septal defect 251
          atrial heart septal defect 148
            atrial heart septal defect 9 1
Path 2
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24646
        Congenital Abnormalities 14135
          Cardiovascular Abnormalities 2116
            congenital heart disease 1900
              heart septal defect 251
                atrial heart septal defect 148
                  atrial heart septal defect 9 1
paths to the root