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ONTOLOGY REPORT - ANNOTATIONS


Term:atrial heart septal defect
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Accession:DOID:1882 term browser browse the term
Definition:Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects.
Synonyms:exact_synonym: Atrial Septal Defect;   Atrial Septal Defects;   Ostium Secundum Atrial Septal Defect;   Persistent Ostium Primum;   atrioseptal defect;   auricular septal defect;   congenital atrial septal defect;   interatrial septal defect;   interauricular septal defect
 primary_id: MESH:D006344
 alt_id: RDO:0000304
 xref: NCI:C84473;   OMIM:PS108800;   ORDO:1478
For additional species annotation, visit the Alliance of Genome Resources.


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atrial heart septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13442496
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7207050
RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:1580922
RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:12914794
RGD:8554872
RGD:12914795
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:11554173
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
atrial heart septal defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccn1 cellular communication network factor 1 JBrowse link 2 251,529,354 251,532,312 RGD:13592920
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:13592920
G Tbx5 T-box 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
atrial heart septal defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
atrial heart septal defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:7240710
RGD:8554872
atrial heart septal defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx20 T-box 20 JBrowse link 8 25,849,394 25,904,570 RGD:7240710
RGD:8554872
atrial heart septal defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:7240710
RGD:8554872
atrial heart septal defect 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tll1 tolloid-like 1 JBrowse link 16 27,399,467 27,597,240 RGD:7240710
RGD:8554872
atrial heart septal defect 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872
atrial heart septal defect 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:7240710
RGD:8554872
atrial heart septal defect 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
atrioventricular septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
G Ccn1 cellular communication network factor 1 JBrowse link 2 251,529,354 251,532,312 RGD:13592920
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:13592920
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:13592920
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:11554173
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:13592920
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:13592920
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
G Nr1d2 nuclear receptor subfamily 1, group D, member 2 JBrowse link 15 8,730,871 8,757,165 RGD:13592920
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801428
G Tbx5 T-box 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
Atrioventricular Septal Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:8554872
RGD:7240710
Atrioventricular Septal Defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:7240710
Atrioventricular Septal Defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
atrioventricular septal defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Pqlc1 PQ loop repeat containing 1 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
Dursun Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc3 glucose 6 phosphatase catalytic subunit 3 JBrowse link 10 90,134,193 90,138,425 RGD:8554872
Holt-Oram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556209
RGD:11554173
G Tbx5 T-box 5 JBrowse link 12 42,059,688 42,148,226 RGD:7240710
RGD:8554872
RGD:11554173
RGD:1578428
RGD:7327219
RGD:7327217
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
RGD:7240710
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:11554173
RGD:8554872
patent foramen ovale term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf213 ring finger protein 213 JBrowse link 10 108,527,351 108,626,372 RGD:8554872
G Tbx5 T-box 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
Ritscher-Schinzel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:11554173
G Dpysl5 dihydropyrimidinase-like 5 JBrowse link 6 26,939,696 27,024,129 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:11554173
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      congenital heart disease 748
        heart septal defect 170
          atrial heart septal defect 57
            Atrial Septal Defect Ostium Primum 0
            Atrial Septal Defect Sinus Venosus 0
            Atrial Septal Defect with Atrioventricular Conduction Defects + 1
            Atrial Septal Defect, Secundum Type 0
            Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
            Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
            Ciuffo Syndrome 0
            Dursun Syndrome 1
            Holt-Oram syndrome 3
            Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 1
            Irons Bhan Syndrome 0
            Lutembacher's syndrome 0
            Lymphedema, Cardiac Septal Defects, And Characteristic Facies 0
            Oculootofacial Dysplasia + 15
            Radial Ray Deficiency, X-Linked 0
            Ritscher-Schinzel syndrome + 3
            Tel Hashomer Camptodactyly Syndrome 0
            atrial heart septal defect 1 4
            atrial heart septal defect 2 1
            atrial heart septal defect 3 1
            atrial heart septal defect 4 1
            atrial heart septal defect 5 1
            atrial heart septal defect 6 1
            atrial heart septal defect 7 1
            atrial heart septal defect 8 1
            atrial heart septal defect 9 1
            atrioventricular septal defect + 14
            patent foramen ovale 3
            rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        Congenital Abnormalities 3302
          Cardiovascular Abnormalities 799
            congenital heart disease 748
              heart septal defect 170
                atrial heart septal defect 57
                  Atrial Septal Defect Ostium Primum 0
                  Atrial Septal Defect Sinus Venosus 0
                  Atrial Septal Defect with Atrioventricular Conduction Defects + 1
                  Atrial Septal Defect, Secundum Type 0
                  Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
                  Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
                  Ciuffo Syndrome 0
                  Dursun Syndrome 1
                  Holt-Oram syndrome 3
                  Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 1
                  Irons Bhan Syndrome 0
                  Lutembacher's syndrome 0
                  Lymphedema, Cardiac Septal Defects, And Characteristic Facies 0
                  Oculootofacial Dysplasia + 15
                  Radial Ray Deficiency, X-Linked 0
                  Ritscher-Schinzel syndrome + 3
                  Tel Hashomer Camptodactyly Syndrome 0
                  atrial heart septal defect 1 4
                  atrial heart septal defect 2 1
                  atrial heart septal defect 3 1
                  atrial heart septal defect 4 1
                  atrial heart septal defect 5 1
                  atrial heart septal defect 6 1
                  atrial heart septal defect 7 1
                  atrial heart septal defect 8 1
                  atrial heart septal defect 9 1
                  atrioventricular septal defect + 14
                  patent foramen ovale 3
                  rapadilino 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.