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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 8
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Accession:DOID:0110113 term browser browse the term
Definition:An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. (DO)
Synonyms:exact_synonym: ASD8;   atrial septal defect 8
 primary_id: OMIM:614433
 alt_id: RDO:9000138
For additional species annotation, visit the Alliance of Genome Resources.

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atrial heart septal defect 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by OMIM:614433
ClinVar Annotator: match by term: Atrial septal defect 8		 OMIM
ClinVar		 PMID:16287139 PMID:25741868 NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      congenital heart disease 1077
        heart septal defect 133
          atrial heart septal defect 81
            atrial heart septal defect 8 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Cardiovascular Abnormalities 1134
            congenital heart disease 1077
              heart septal defect 133
                atrial heart septal defect 81
                  atrial heart septal defect 8 1
paths to the root