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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


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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 Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect 8 ClinVar PMID:28492532 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by term: Atrial septal defect 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16287139 PMID:25741868 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital heart disease 1346
        heart septal defect 215
          atrial heart septal defect 121
            atrial heart septal defect 8 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Cardiovascular Abnormalities 1545
            congenital heart disease 1346
              heart septal defect 215
                atrial heart septal defect 121
                  atrial heart septal defect 8 2
paths to the root