ONTOLOGY REPORT - ANNOTATIONS


Term:dextro-looped transposition of the great arteries 1
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Accession:DOID:0060771 term browser browse the term
Definition:A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: D-TGA;   DTGA1
 primary_id: MESH:C563853
 alt_id: OMIM:608808;   RDO:0013003
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dextro-looped transposition of the great arteries 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfc1 cripto, FRL-1, cryptic family 1 JBrowse link 9 41,045,352 41,051,979 RGD:13592920
G Dvl2 dishevelled segment polarity protein 2 JBrowse link 10 56,609,810 56,619,269 RGD:13592920
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:13592920
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:7240710
RGD:8554872

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          dextro-looped transposition of the great arteries 1 4
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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Cardiovascular Abnormalities 782
            congenital heart disease 731
              dextro-looped transposition of the great arteries 17
                dextro-looped transposition of the great arteries 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.