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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
For additional species annotation, visit the Alliance of Genome Resources.



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 4:146,631,883...146,641,499
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        Congenital Abnormalities 5794
          Cardiovascular Abnormalities 1143
            congenital heart disease 1084
              heart septal defect 135
                ventricular septal defect 84
                  atrioventricular septal defect 36
                    Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
paths to the root