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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
 broad_synonym: CITED2-RELATED CONDITION
 primary_id: MIM: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 3:182,059,318...182,135,273
Ensembl chr 3:182,052,337...182,135,137 		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 OMIM
ClinVar		 PMID:16287139 PMID:25741868 NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:14,103,457...14,134,782 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      congenital heart disease 1415
        heart septal defect 221
          atrial heart septal defect 125
            atrial heart septal defect 8 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            congenital heart disease 1415
              heart septal defect 221
                atrial heart septal defect 125
                  atrial heart septal defect 8 2
paths to the root