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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 4
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Accession:DOID:0110109 term browser browse the term
Definition:An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. (DO)
Synonyms:exact_synonym: ASD4;   atrial septal defect 4
 primary_id: MESH:C566963;   RDO:0015163
 alt_id: OMIM:611363
For additional species annotation, visit the Alliance of Genome Resources.


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atrial heart septal defect 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by OMIM:611363
ClinVar Annotator: match by term: Atrial septal defect 4
OMIM
ClinVar
PMID:17668378 PMID:19762328 PMID:25741868 PMID:28492532 NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          atrial heart septal defect 4 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        Congenital Abnormalities 5191
          Cardiovascular Abnormalities 1128
            congenital heart disease 1076
              heart septal defect 133
                atrial heart septal defect 81
                  atrial heart septal defect 4 1
paths to the root