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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 2
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Accession:DOID:0110107 term browser browse the term
Definition:An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. (DO)
Synonyms:exact_synonym: ASD2;   Atrial Septal Defect 2
 primary_id: MESH:C538263
 alt_id: OMIM:607941;   RDO:0004221
For additional species annotation, visit the Alliance of Genome Resources.


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atrial heart septal defect 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by OMIM:607941
ClinVar Annotator: match by term: Atrial septal defect 2
OMIM
ClinVar
PMID:12845333, PMID:15810002, PMID:17643447, PMID:18055909, PMID:18076106, PMID:18672102, PMID:19302747, PMID:19678963, PMID:20347099, PMID:20659440, PMID:20854389, PMID:20874241, PMID:20981092, PMID:21110066, PMID:21519287, PMID:24033266, PMID:25741868, PMID:26490186, PMID:26997702, PMID:27374936, PMID:27535533, PMID:28132688, PMID:28492532, PMID:29377543 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      congenital heart disease 1075
        heart septal defect 150
          atrial heart septal defect 94
            atrial heart septal defect 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Cardiovascular Abnormalities 1130
            congenital heart disease 1075
              heart septal defect 150
                atrial heart septal defect 94
                  atrial heart septal defect 2 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.