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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 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1128
            congenital heart disease 1073
              heart septal defect 151
                atrial heart septal defect 95
                  atrioventricular septal defect 33
                    Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 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.