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Term:right atrial isomerism
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Accession:DOID:0060856 term browser browse the term
Definition:A visceral heterotaxy 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 may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs 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: ORDO:97548
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right atrial isomerism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2b activin A receptor type 2B JBrowse link 8 128,087,308 128,126,776 RGD:13592920
G Cfc1 cripto, FRL-1, cryptic family 1 JBrowse link 9 41,045,352 41,051,979 RGD:13592920
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    physical disorder 730
      visceral heterotaxy 74
        right atrial isomerism 3
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Immune & Inflammatory Diseases 3007
        immune system disease 2430
          lymphatic system disease 780
            splenic disease 101
              visceral heterotaxy 74
                right atrial isomerism 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.