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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 16058
    Developmental Diseases 9508
      congenital heart disease 1074
        heart septal defect 151
          atrial heart septal defect 95
            atrial heart septal defect 8 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              heart septal defect 151
                atrial heart septal defect 95
                  atrial heart septal defect 8 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.