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ONTOLOGY REPORT - ANNOTATIONS


Term:scimitar syndrome
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Accession:DOID:4297 term browser browse the term
Definition:An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart.
Synonyms:exact_synonym: APVR;   Anomalous Pulmonary Venous Return;   Pulmonary Venous Return Anomaly;   Scimitar Anomaly;   TAPVR;   TAPVR1;   Total Anomalous Pulmonary Venous Return;   Total Anomalous Pulmonary Venous Return 1;   pulmonary venolobar syndrome
 primary_id: MESH:D012587;   RDO:0001487
 alt_id: OMIM:106700
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scimitar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:8554872

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Term Annotations click to browse term
  disease 14759
    syndrome 4210
      scimitar syndrome 2
        Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Cardiovascular Abnormalities 781
            Vascular Malformations 67
              scimitar syndrome 2
                Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 0
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