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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:Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
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Accession:DOID:9001355 term browser browse the term
Synonyms:primary_id: MESH:C565249
 alt_id: RDO:0013944


show annotations for term's descendants           Sort by:
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine-rich with EGF-like domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome 		CTD
ClinVar		 PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:148,187,265...148,197,116 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
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
                ventricular septal defect 163
                  atrioventricular septal defect 61
                    Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
paths to the root