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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;   TBX20-RELATED CONDITION;   atrial septal defect 4
 primary_id: MESH:C566963;   RDO:0015163
 alt_id: MIM:611363


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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 term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17668378 PMID:18834961 PMID:19074289 PMID:19762328 PMID:25741868 More... NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        genetic disease 13292
          atrial heart septal defect 4 1
Path 2
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        Congenital Abnormalities 7759
          Cardiovascular Abnormalities 1582
            congenital heart disease 1382
              heart septal defect 221
                atrial heart septal defect 127
                  atrial heart septal defect 4 1
paths to the root