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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:right atrial isomerism
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Accession:DOID:0060856 term browser browse the term
Definition:A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO)
Synonyms:exact_synonym: Ivemark syndrome;   asplenia with cardiovascular anomalies;   right atrial isomerism with asplenia;   right atrial isomerisms
 xref: ICD10CM:Q20.6;   ORDO:97548
For additional species annotation, visit the Alliance of Genome Resources.


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right atrial isomerism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISS OMIM:208530 MouseDO NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:208530 MouseDO NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
JBrowse link
G Gdf1 growth differentiation factor 1 ISS OMIM:208530 MouseDO NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      visceral heterotaxy 94
        right atrial isomerism 3
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              visceral heterotaxy 94
                right atrial isomerism 3
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.