ONTOLOGY REPORT - ANNOTATIONS

Term:Heart Defects, Congenital
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Accession:RDO:0000380 term browser browse the term
Definition:Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Synonyms:exact_synonym: Congenital Heart Defect;   Heart Abnormalities;   Heart Abnormality;   Heart, Malformation Of
 primary_id: MESH:D006330
 alt_id: OMIM:121360;   OMIM:600423;   OMIM:601877

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Heart Defects, Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adam19 ADAM metallopeptidase domain 19 GBrowse link ISS 10 31,190,242 31,282,773 RGD:1559267 RGD
G Cbfb core-binding factor, beta subunit GBrowse link ISS 19 34,985,879 35,029,446 RGD:7240710 OMIM
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 GBrowse link ISS 1 12,721,500 12,723,943 RGD:734781 RGD
G Cma1 chymase 1, mast cell GBrowse link ISS 15 34,083,202 34,084,387 RGD:5128660 RGD
G Ece1 endothelin converting enzyme 1 GBrowse link ISS 5 156,635,656 156,735,783 RGD:7240710 OMIM
G Fkbp1a FK506 binding protein 1a GBrowse link ISS 3 141,861,237 141,880,797 RGD:1580388 RGD
G Gata4 GATA binding protein 4 GBrowse link ISS 15 42,472,793 42,519,569 RGD:1580390 RGD
G Gpc3 glypican 3 GBrowse link ISS X 139,192,115 139,560,649 RGD:704404 RGD
G Jag1 jagged 1 GBrowse link Spontaneous ISS 3 125,181,063 125,216,481 RGD:1582342 RGD
G Lefty2 Left-right determination factor 2 GBrowse link ISS 13 96,621,422 96,626,509 RGD:7240710 OMIM
G Mkks McKusick-Kaufman syndrome GBrowse link Spontaneous ISS 3 124,975,099 124,993,345 RGD:1582516 RGD
G Mospd3 motile sperm domain containing 3 GBrowse link Model ISS 12 19,663,139 19,666,904 RGD:1582660 RGD
G Myl7 myosin, light chain 7, regulatory GBrowse link ISS 14 86,568,142 86,570,122 RGD:1580934 RGD
G Nf1 neurofibromin 1 GBrowse link ISS 10 65,574,833 65,766,305 RGD:1580932 RGD
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:1580253 RGD
G Pebp1 phosphatidylethanolamine binding protein 1 GBrowse link ISS 12 40,491,393 40,495,593 RGD:2302870 RGD
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 GBrowse link ISS 12 36,501,886 36,558,055 RGD:1601571 RGD
G Smyd1 SET and MYND domain containing 1 GBrowse link ISS 4 104,423,556 104,475,134 RGD:1580757 RGD
G Sp4 Sp4 transcription factor GBrowse link ISS 6 145,553,512 145,619,389 RGD:1581309 RGD
G Vegfa vascular endothelial growth factor A GBrowse link ISS 9 10,520,730 10,536,071 RGD:1580565 RGD
Aarskog syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgd1 FYVE, RhoGEF and PH domain containing 1 GBrowse link ISS X 40,364,211 40,407,213 RGD:7240710 OMIM
Alagille Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:6482232 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:1580651 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:6482237 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:7240710 OMIM
G Notch2 notch 2 GBrowse link ISS 2 192,839,350 192,986,589 RGD:1580762 RGD
G Notch2 notch 2 GBrowse link ISS 2 192,839,350 192,986,589 RGD:7240710 OMIM
Andersen Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 GBrowse link ISS 10 100,574,985 100,576,268 RGD:7240710 OMIM
Aortic aneurysm, familial thoracic 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Myh11 myosin, heavy chain 11, smooth muscle GBrowse link ISS 10 666,709 776,540 RGD:7240710 OMIM
Aortic Coarctation term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mthfr methylenetetrahydrofolate reductase (NAD(P)H) GBrowse link ISS 5 165,112,850 165,126,885 RGD:4891157 RGD
AORTIC VALVE DISEASE 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Notch1 notch 1 GBrowse link ISS 3 4,631,797 4,677,640 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dsp desmoplakin GBrowse link ISS 17 32,848,313 32,896,044 RGD:1580890 RGD
G Pkp2 plakophilin 2 GBrowse link ISS 11 86,553,493 86,584,425 RGD:1580873 RGD
G Pkp2 plakophilin 2 GBrowse link ISS 11 86,553,493 86,584,425 RGD:1580872 RGD
G Ryr2 ryanodine receptor 2, cardiac GBrowse link Susceptibility ISS 17 68,959,042 69,544,816 RGD:1599243 RGD
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tgfb3 transforming growth factor, beta 3 GBrowse link ISS 6 110,173,443 110,195,215 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dsg2 desmoglein 2 GBrowse link ISS 18 12,306,321 12,366,719 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dsc2 desmocollin 2 GBrowse link ISS 18 11,902,185 11,933,989 RGD:7240710 OMIM
G Dsc3 desmocollin 3 GBrowse link ISS 18 11,831,071 11,865,107 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Jup junction plakoglobin GBrowse link ISS 10 89,307,938 89,335,254 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ryr2 ryanodine receptor 2, cardiac GBrowse link ISS 17 68,959,042 69,544,816 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tmem43 transmembrane protein 43 GBrowse link ISS 4 125,656,685 125,671,827 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dsp desmoplakin GBrowse link ISS 17 32,848,313 32,896,044 RGD:7240710 OMIM
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pkp2 plakophilin 2 GBrowse link ISS 11 86,553,493 86,584,425 RGD:7240710 OMIM
Atrial septal defect 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gata4 GATA binding protein 4 GBrowse link ISS 15 42,472,793 42,519,569 RGD:7240710 OMIM
Atrial Septal Defect 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tbx20 T-box 20 GBrowse link ISS 8 24,366,065 24,407,270 RGD:7240710 OMIM
Atrial Septal Defect 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Actc1 actin, alpha, cardiac muscle 1 GBrowse link ISS 3 99,901,022 99,906,558 RGD:7240710 OMIM
Atrial Septal Defect 6 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tll1 tolloid-like 1 GBrowse link ISS 16 28,433,106 28,641,870 RGD:7240710 OMIM
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:7240710 OMIM
ATRIOVENTRICULAR SEPTAL DEFECT 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:7240710 OMIM
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Creld1 cysteine-rich with EGF-like domains 1 GBrowse link ISS 4 149,375,373 149,384,983 RGD:7240710 OMIM
Axenfeld-Rieger Syndrome, Type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Foxc1 forkhead box C1 GBrowse link ISS 17 39,026,186 39,030,163 RGD:7240710 OMIM
Barth Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Taz tafazzin GBrowse link ISS X 160,319,389 160,326,974 RGD:7240710 OMIM
Cardiac valvular dysplasia, X-linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flna filamin A, alpha GBrowse link ISS X 160,362,334 160,385,626 RGD:7240710 OMIM
Cardiofaciocutaneous syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Braf v-raf murine sarcoma viral oncogene homolog B1 GBrowse link ISS 4 67,117,759 67,243,058 RGD:7240710 OMIM
G Kras v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog GBrowse link ISS 4 182,869,242 182,895,106 RGD:7240710 OMIM
G Map2k1 mitogen activated protein kinase kinase 1 GBrowse link ISS 8 68,379,074 68,451,554 RGD:7240710 OMIM
G Map2k2 mitogen activated protein kinase kinase 2 GBrowse link ISS 7 10,074,654 10,094,003 RGD:7240710 OMIM
Char syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tfap2b transcription factor AP-2 beta GBrowse link ISS 9 18,052,402 18,082,202 RGD:7240710 OMIM
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Chd7 chromodomain helicase DNA binding protein 7 GBrowse link ISS 5 22,549,237 22,710,257 RGD:7240710 OMIM
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E GBrowse link ISS 4 16,523,602 16,781,878 RGD:7240710 OMIM
Ciliary Dyskinesia, Primary, 7 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dnah11 dynein, axonemal, heavy chain 11 GBrowse link ISS 6 145,190,931 145,516,859 RGD:7240710 OMIM
Ciliary Dyskinesia, Primary, 9 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dnai2 dynein, axonemal, intermediate chain 2 GBrowse link ISS 10 104,606,688 104,641,181 RGD:7240710 OMIM
Conotruncal cardiac defects term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Add1 adducin 1 (alpha) GBrowse link ISS 14 81,750,430 81,808,919 RGD:5147996 RGD
G Cfc1 cripto, FRL-1, cryptic family 1 GBrowse link ISS 9 33,280,037 33,287,118 RGD:7240710 OMIM
G Gata6 GATA binding protein 6 GBrowse link ISS 18 2,504,264 2,534,648 RGD:7240710 OMIM
G Gdf1 growth differentiation factor 1 GBrowse link ISS 16 19,580,807 19,596,415 RGD:7240710 OMIM
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:7240710 OMIM
G Nkx2-6 NK2 homeobox 6 GBrowse link ISS 15 49,712,260 49,716,355 RGD:7240710 OMIM
G Tbx1 T-box 1 GBrowse link ISS 11 84,400,980 84,410,631 RGD:7240710 OMIM
CONOTRUNCAL HEART MALFORMATIONS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cfc1 cripto, FRL-1, cryptic family 1 GBrowse link ISS 9 33,280,037 33,287,118 RGD:7240710 OMIM
G Gata6 GATA binding protein 6 GBrowse link ISS 18 2,504,264 2,534,648 RGD:7240710 OMIM
G Gdf1 growth differentiation factor 1 GBrowse link ISS 16 19,580,807 19,596,415 RGD:7240710 OMIM
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:7240710 OMIM
G Nkx2-6 NK2 homeobox 6 GBrowse link ISS 15 49,712,260 49,716,355 RGD:7240710 OMIM
G Tbx1 T-box 1 GBrowse link ISS 11 84,400,980 84,410,631 RGD:7240710 OMIM
Dextrocardia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acvr2b activin A receptor, type IIB GBrowse link ISS 8 124,364,330 124,395,748 RGD:7240710 OMIM
DiGeorge Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 GBrowse link ISS 8 75,692,099 75,771,159 RGD:734550 RGD
G Arvcf armadillo repeat gene deleted in velo-cardio-facial syndrome GBrowse link ISS 11 84,582,208 84,639,874 RGD:1578806 RGD
G Comt catechol-O-methyltransferase GBrowse link ISS 11 84,561,591 84,581,713 RGD:7240710 OMIM
G Dvl1 dishevelled, dsh homolog 1 (Drosophila) GBrowse link ISS 5 172,705,951 172,717,626 RGD:1580898 RGD
G Tbx1 T-box 1 GBrowse link ISS 11 84,400,980 84,410,631 RGD:7240710 OMIM
G Tssk2 testis-specific serine kinase 2 GBrowse link ISS 11 85,074,711 85,076,066 RGD:1580778 RGD
G Ufd1l ubiquitin fusion degradation 1 like (yeast) ISS RGD:1580803 RGD
G Usp18 ubiquitin specific peptidase 18 GBrowse link ISS 4 157,692,720 157,694,884 RGD:1549873 RGD
Ductus Arteriosus, Patent term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Myh11 myosin, heavy chain 11, smooth muscle GBrowse link ISS 10 666,709 776,540 RGD:1580903 RGD
G Tfap2b transcription factor AP-2 beta GBrowse link Susceptibility ISS 9 18,052,402 18,082,202 RGD:1601543 RGD
Heart Septal Defects term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bmpr2 bone morphogenetic protein receptor, type II (serine/threonine kinase) GBrowse link ISS 9 58,327,587 58,436,057 RGD:5129230 RGD
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 GBrowse link ISS 1 12,721,500 12,723,943 RGD:7240710 OMIM
G Creld1 cysteine-rich with EGF-like domains 1 GBrowse link Susceptibility ISS 4 149,375,373 149,384,983 RGD:1600967 RGD
G Ece1 endothelin converting enzyme 1 GBrowse link ISS 5 156,635,656 156,735,783 RGD:734909 RGD
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:1581131 RGD
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:1581130 RGD
Heart Septal Defects, Atrial term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Actc1 actin, alpha, cardiac muscle 1 GBrowse link ISS 3 99,901,022 99,906,558 RGD:7240710 OMIM
G Gata4 GATA binding protein 4 GBrowse link ISS 15 42,472,793 42,519,569 RGD:704404 RGD
G Gata4 GATA binding protein 4 GBrowse link ISS 15 42,472,793 42,519,569 RGD:7207050 RGD
G Myh6 myosin, heavy chain 6, cardiac muscle, alpha GBrowse link ISS 15 33,044,506 33,068,098 RGD:1580922 RGD
G Myh6 myosin, heavy chain 6, cardiac muscle, alpha GBrowse link ISS 15 33,044,506 33,068,098 RGD:7240710 OMIM
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:1580254 RGD
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:734845 RGD
G Tbx20 T-box 20 GBrowse link ISS 8 24,366,065 24,407,270 RGD:7240710 OMIM
G Tll1 tolloid-like 1 GBrowse link ISS 16 28,433,106 28,641,870 RGD:7240710 OMIM
Heart Septal Defects, Ventricular term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fkbp1a FK506 binding protein 1a GBrowse link ISS 3 141,861,237 141,880,797 RGD:704404 RGD
Heart-hand syndrome, Slovenian type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lmna lamin A/C GBrowse link ISS 2 180,595,724 180,616,354 RGD:7240710 OMIM
Heterotaxy, visceral, X-linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Zic3 Zic family member 3 GBrowse link ISS X 143,128,118 143,139,155 RGD:7240710 OMIM
Holt-Oram syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tbx5 T-box 5 GBrowse link ISS 12 37,956,658 38,004,255 RGD:7240710 OMIM
Hypoplastic Left Heart Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:1582668 RGD
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:7240710 OMIM
Jervell-Lange Nielsen Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcne1 potassium voltage-gated channel, Isk-related family, member 1 GBrowse link ISS 11 32,344,529 32,355,189 RGD:1580499 RGD
G Kcne1 potassium voltage-gated channel, Isk-related family, member 1 GBrowse link ISS 11 32,344,529 32,355,189 RGD:7240710 OMIM
G Kcnq1 potassium voltage-gated channel, KQT-like subfamily, member 1 GBrowse link ISS 1 203,383,401 203,803,687 RGD:1580508 RGD
G Kcnq1 potassium voltage-gated channel, KQT-like subfamily, member 1 GBrowse link ISS 1 203,383,401 203,803,687 RGD:7240710 OMIM
Kartagener Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dnah11 dynein, axonemal, heavy chain 11 GBrowse link Susceptibility ISS 6 145,190,931 145,516,859 RGD:734893 RGD
G Dnah5 dynein, axonemal, heavy chain 5 GBrowse link Susceptibility ISS 2 80,126,196 80,390,674 RGD:1601080 RGD
G Dnai1 dynein, axonemal, intermediate chain 1 GBrowse link ISS 5 58,988,981 59,060,130 RGD:7240710 OMIM
G Dnai1 dynein, axonemal, intermediate chain 1 GBrowse link Susceptibility ISS 5 58,988,981 59,060,130 RGD:1601083 RGD
G Foxj1 forkhead box J1 ISS RGD:704404 RGD
Kleefstra Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ehmt1 euchromatic histone-lysine N-methyltransferase 1 GBrowse link ISS 3 3,074,136 3,169,921 RGD:7240710 OMIM
LEFT VENTRICULAR NONCOMPACTION 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dtna dystrobrevin, alpha GBrowse link ISS 18 15,024,302 15,571,410 RGD:7240710 OMIM
LEOPARD Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 GBrowse link ISS 12 36,501,886 36,558,055 RGD:7240710 OMIM
G Raf1 v-raf-leukemia viral oncogene 1 GBrowse link ISS 4 151,752,583 151,775,609 RGD:7240710 OMIM
LEOPARD SYNDROME 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Braf v-raf murine sarcoma viral oncogene homolog B1 GBrowse link ISS 4 67,117,759 67,243,058 RGD:7240710 OMIM
LEOPARD syndrome, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 GBrowse link ISS 12 36,501,886 36,558,055 RGD:7240710 OMIM
LEOPARD syndrome, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Raf1 v-raf-leukemia viral oncogene 1 GBrowse link ISS 4 151,752,583 151,775,609 RGD:7240710 OMIM
Long QT Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 GBrowse link ISS 4 26,772,929 26,803,149 RGD:7240710 OMIM
G Alg10 ALG10, alpha-1,2-glucosyltransferase GBrowse link ISS 7 128,613,369 128,618,635 RGD:7240710 OMIM
G Ank2 ankyrin 2, neuronal GBrowse link Susceptibility ISS 2 224,182,431 224,501,751 RGD:734572 RGD
G Cav3 caveolin 3 GBrowse link ISS 4 148,294,428 148,310,380 RGD:7240710 OMIM
G Kcne1 potassium voltage-gated channel, Isk-related family, member 1 GBrowse link ISS 11 32,344,529 32,355,189 RGD:1580499 RGD
G Kcne1 potassium voltage-gated channel, Isk-related family, member 1 GBrowse link ISS 11 32,344,529 32,355,189 RGD:1580502 RGD
G Kcne1 potassium voltage-gated channel, Isk-related family, member 1 GBrowse link ISS 11 32,344,529 32,355,189 RGD:7240710 OMIM
G Kcne2 potassium voltage-gated channel, Isk-related family, member 2 GBrowse link ISS 11 32,277,711 32,290,828 RGD:1580502 RGD
G Kcne2 potassium voltage-gated channel, Isk-related family, member 2 GBrowse link ISS 11 32,277,711 32,290,828 RGD:7240710 OMIM
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 GBrowse link ISS 4 6,192,644 6,224,285 RGD:1580502 RGD
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 GBrowse link ISS 4 6,192,644 6,224,285 RGD:7240710 OMIM
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 GBrowse link ISS 8 32,082,866 32,104,412 RGD:7240710 OMIM
G Kcnq1 potassium voltage-gated channel, KQT-like subfamily, member 1 GBrowse link ISS 1 203,383,401 203,803,687 RGD:1580502 RGD
G Scn4b sodium channel, voltage-gated, type IV, beta GBrowse link ISS 8 48,091,561 48,106,735 RGD:7240710 OMIM
G Scn5a sodium channel, voltage-gated, type V, alpha subunit GBrowse link ISS 8 124,446,479 124,545,301 RGD:1580502 RGD
G Scn5a sodium channel, voltage-gated, type V, alpha subunit GBrowse link ISS 8 124,446,479 124,545,301 RGD:7240710 OMIM
G Snta1 syntrophin, alpha 1 GBrowse link ISS 3 144,843,678 144,874,238 RGD:6771370 RGD
Long Qt Syndrome 10 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Scn4b sodium channel, voltage-gated, type IV, beta GBrowse link ISS 8 48,091,561 48,106,735 RGD:7240710 OMIM
Long Qt Syndrome 11 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 GBrowse link ISS 4 26,772,929 26,803,149 RGD:7240710 OMIM
LONG QT SYNDROME 13 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 GBrowse link ISS 8 32,082,866 32,104,412 RGD:7240710 OMIM
Long Qt Syndrome 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg10 ALG10, alpha-1,2-glucosyltransferase GBrowse link ISS 7 128,613,369 128,618,635 RGD:7240710 OMIM
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 GBrowse link ISS 4 6,192,644 6,224,285 RGD:7240710 OMIM
Long Qt Syndrome 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Scn5a sodium channel, voltage-gated, type V, alpha subunit GBrowse link ISS 8 124,446,479 124,545,301 RGD:7240710 OMIM
Long Qt Syndrome 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcne1 potassium voltage-gated channel, Isk-related family, member 1 GBrowse link ISS 11 32,344,529 32,355,189 RGD:7240710 OMIM
Long Qt Syndrome 6 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcne2 potassium voltage-gated channel, Isk-related family, member 2 GBrowse link ISS 11 32,277,711 32,290,828 RGD:7240710 OMIM
Long Qt Syndrome 9 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cav3 caveolin 3 GBrowse link ISS 4 148,294,428 148,310,380 RGD:7240710 OMIM
Long QT syndrome type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Scn5a sodium channel, voltage-gated, type V, alpha subunit GBrowse link ISS 8 124,446,479 124,545,301 RGD:7240710 OMIM
Lujan Fryns syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Med12 mediator complex subunit 12 GBrowse link ISS X 89,351,546 89,374,489 RGD:7240710 OMIM
Marfan Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:1580378 RGD
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:1300361 RGD
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:7240710 OMIM
G Fbn2 fibrillin 2 GBrowse link ISS 18 53,883,011 53,914,001 RGD:1300364 RGD
G Lamb1 laminin, beta 1 GBrowse link ISS 6 49,115,671 49,183,374 RGD:7240710 OMIM
G Mmp12 matrix metallopeptidase 12 GBrowse link Spontaneous ISS 8 4,249,938 4,259,675 RGD:1582351 RGD
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) GBrowse link ISS 15 32,493,852 32,503,077 RGD:1582351 RGD
G Tgfbr1 transforming growth factor, beta receptor 1 GBrowse link ISS 5 63,976,868 64,034,058 RGD:2299005 RGD
G Tgfbr2 transforming growth factor, beta receptor II GBrowse link Susceptibility ISS 8 120,593,595 120,680,453 RGD:1579928 RGD
G Tgfbr2 transforming growth factor, beta receptor II GBrowse link ISS 8 120,593,595 120,680,453 RGD:2299005 RGD
McKusick Kaufman syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mkks McKusick-Kaufman syndrome GBrowse link ISS 3 124,975,099 124,993,345 RGD:7240710 OMIM
Microphthalmia, syndromic 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bcor BCL6 co-repressor GBrowse link ISS X 22,699,778 22,820,234 RGD:7240710 OMIM
MICROPHTHALMIA, SYNDROMIC 9 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Stra6 stimulated by retinoic acid 6 GBrowse link ISS 8 61,920,772 61,939,791 RGD:7240710 OMIM
Naxos disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Jup junction plakoglobin GBrowse link ISS 10 89,307,938 89,335,254 RGD:7240710 OMIM
Neurofibromatosis-Noonan syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nf1 neurofibromin 1 GBrowse link ISS 10 65,574,833 65,766,305 RGD:7240710 OMIM
Noonan Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aldoc aldolase C, fructose-bisphosphate GBrowse link ISS 10 64,308,826 64,312,415 RGD:734555 RGD
G Kras v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog GBrowse link ISS 4 182,869,242 182,895,106 RGD:1600472 RGD
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 GBrowse link ISS 12 36,501,886 36,558,055 RGD:1581292 RGD
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 GBrowse link ISS 12 36,501,886 36,558,055 RGD:7240710 OMIM
Noonan syndrome 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kras v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog GBrowse link ISS 4 182,869,242 182,895,106 RGD:7240710 OMIM
Noonan Syndrome 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hgf hepatocyte growth factor GBrowse link ISS 4 14,864,357 14,932,513 RGD:7240710 OMIM
G Sos1 Son of sevenless homolog 1 (Drosophila) GBrowse link ISS 6 3,308,778 3,390,661 RGD:7240710 OMIM
Noonan Syndrome 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Raf1 v-raf-leukemia viral oncogene 1 GBrowse link ISS 4 151,752,583 151,775,609 RGD:7240710 OMIM
Noonan Syndrome 6 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nras neuroblastoma ras oncogene GBrowse link ISS 2 198,292,650 198,300,286 RGD:7240710 OMIM
NOONAN SYNDROME 7 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Braf v-raf murine sarcoma viral oncogene homolog B1 GBrowse link ISS 4 67,117,759 67,243,058 RGD:7240710 OMIM
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Shoc2 soc-2 (suppressor of clear) homolog (C. elegans) GBrowse link ISS 1 260,255,253 260,273,170 RGD:7240710 OMIM
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cbl Cbl proto-oncogene, E3 ubiquitin protein ligase GBrowse link ISS 8 47,135,357 47,211,889 RGD:7240710 OMIM
Primary ciliary dyskinesia, 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dnah5 dynein, axonemal, heavy chain 5 GBrowse link ISS 2 80,126,196 80,390,674 RGD:7240710 OMIM
Rapadilino syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Recql4 RecQ protein-like 4 GBrowse link ISS 7 114,752,863 114,760,027 RGD:7240710 OMIM
Romano-Ward Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcne1 potassium voltage-gated channel, Isk-related family, member 1 GBrowse link ISS 11 32,344,529 32,355,189 RGD:1580499 RGD
G Kcnq1 potassium voltage-gated channel, KQT-like subfamily, member 1 GBrowse link ISS 1 203,383,401 203,803,687 RGD:1580509 RGD
G Kcnq1 potassium voltage-gated channel, KQT-like subfamily, member 1 GBrowse link ISS 1 203,383,401 203,803,687 RGD:7240710 OMIM
Short QT Syndrome 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 GBrowse link ISS 4 6,192,644 6,224,285 RGD:7240710 OMIM
Short QT Syndrome 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcnq1 potassium voltage-gated channel, KQT-like subfamily, member 1 GBrowse link ISS 1 203,383,401 203,803,687 RGD:7240710 OMIM
Short QT Syndrome 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 GBrowse link ISS 10 100,574,985 100,576,268 RGD:7240710 OMIM
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gpc3 glypican 3 GBrowse link ISS X 139,192,115 139,560,649 RGD:7240710 OMIM
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dll3 delta-like 3 (Drosophila) GBrowse link ISS 1 83,373,482 83,381,219 RGD:7240710 OMIM
TARP syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rbm10 RNA binding motif protein 10 GBrowse link ISS X 12,957,747 12,989,619 RGD:7240710 OMIM
Tetralogy of Fallot term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gata6 GATA binding protein 6 GBrowse link ISS 18 2,504,264 2,534,648 RGD:7240710 OMIM
G Gdf1 growth differentiation factor 1 GBrowse link ISS 16 19,580,807 19,596,415 RGD:7240710 OMIM
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:1582666 RGD
G Gja5 gap junction protein, alpha 5 GBrowse link ISS 2 191,824,118 191,843,867 RGD:7207464 RGD
G Jag1 jagged 1 GBrowse link Spontaneous ISS 3 125,181,063 125,216,481 RGD:1582344 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:7240710 OMIM
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:1581133 RGD
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:7240710 OMIM
G Tbx1 T-box 1 GBrowse link ISS 11 84,400,980 84,410,631 RGD:7240710 OMIM
G Zfpm2 zinc finger protein, multitype 2 GBrowse link ISS 7 76,210,472 76,654,443 RGD:1580641 RGD
G Zfpm2 zinc finger protein, multitype 2 GBrowse link ISS 7 76,210,472 76,654,443 RGD:7240710 OMIM
Timothy syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit GBrowse link ISS 4 154,895,691 155,517,389 RGD:1580173 RGD
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit GBrowse link ISS 4 154,895,691 155,517,389 RGD:7240710 OMIM
Transposition of Great Vessels term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cfc1 cripto, FRL-1, cryptic family 1 GBrowse link ISS 9 33,280,037 33,287,118 RGD:7240710 OMIM
G Gdf1 growth differentiation factor 1 GBrowse link ISS 16 19,580,807 19,596,415 RGD:7240710 OMIM
G Med13l mediator complex subunit 13-like GBrowse link ISS 12 39,136,265 39,181,221 RGD:1580649 RGD
Transposition of the Great Arteries, Dextro-Looped 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Med13l mediator complex subunit 13-like GBrowse link ISS 12 39,136,265 39,181,221 RGD:7240710 OMIM
VACTERL association with hydrocephaly, X-linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Zic3 Zic family member 3 GBrowse link ISS X 143,128,118 143,139,155 RGD:7240710 OMIM
VACTERL hydrocephaly term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pten phosphatase and tensin homolog GBrowse link ISS 1 236,771,027 236,837,261 RGD:7240710 OMIM
VATER association term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fn1 fibronectin 1 GBrowse link IEP 9 70,702,181 70,771,155 RGD:7205466 RGD
G Hoxd13 homeo box D13 GBrowse link ISS 3 57,283,682 57,286,998 RGD:7240710 OMIM
Wolff-Parkinson-White Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit GBrowse link ISS 4 5,620,992 5,667,438 RGD:1580719 RGD
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit GBrowse link ISS 4 5,620,992 5,667,438 RGD:1580718 RGD
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit GBrowse link ISS 4 5,620,992 5,667,438 RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30477
    Cardiovascular Diseases 5260
      Cardiovascular Abnormalities 256
        Heart Defects, Congenital 214
          22q11 Deletion Syndrome + 8
          Aarskog syndrome 1
          Al Gazali Aziz Salem syndrome 0
          Alagille Syndrome 6
          Amastia, Bilateral, With Ureteral Triplication And Dysmorphism 0
          Aortic Coarctation + 1
          Aortic Valve Disease + 1
          Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts 0
          Arrhythmogenic Right Ventricular Dysplasia + 14
          Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 0
          Axenfeld-Rieger Syndrome, Type 3 1
          Baetz-Greenwalt syndrome 0
          Barth Syndrome + 1
          Beemer Ertbruggen syndrome 0
          Bixler Christian Gorlin syndrome 0
          Blepharophimosis syndrome Ohdo type 0
          Bonneau Syndrome 0
          Burn-Mckeown syndrome 0
          CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 2
          Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 0
          Cardiac Valvular Defect, Developmental 0
          Cardiac valvular dysplasia, X-linked 1
          Cardioauditory syndrome of Sanchez Cascos 0
          Cardiocranial syndrome 0
          Cardiofaciocutaneous syndrome 4
          Chromosome 1q21.1 Duplication Syndrome 0
          Chromosome 6pter-P24 Deletion Syndrome 0
          Chromosome 9p Deletion Syndrome 0
          Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 0
          Congenital Heart Defects, X-Linked 0
          Conotruncal cardiac defects + 13
          Cor Triatriatum 0
          Coronary Vessel Anomalies + 0
          Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 0
          Cranioacrofacial Syndrome 0
          Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
          Craniofaciofrontodigital Syndrome 0
          Crisscross Heart 0
          Deafness, Congenital Heart Defects, and Posterior Embryotoxon 0
          Dextrocardia + 10
          Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
          Ductus Arteriosus, Patent + 4
          Ebstein Anomaly 0
          Ectopia Cordis 0
          Ectrodactyly cardiopathy dysmorphism 0
          Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
          Eisenmenger Complex 0
          Ellis Yale Winter syndrome 0
          Emanuel syndrome 0
          Faciocardiomelic Dysplasia, Lethal 0
          Faciocardiomelic Syndrome 0
          Faciocardiorenal syndrome 0
          Familial anomalous origin of right pulmonary artery 0
          Fragile Site 16p12 0
          Frontoocular Syndrome 0
          Gay Feinmesser Cohen syndrome 0
          Genito palato cardiac syndrome 0
          Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
          Heart Septal Defects + 32
          Heart defects limb shortening 0
          Heart-hand syndrome, Slovenian type 1
          Heart-hand syndrome, Spanish type 0
          Hecht Scott syndrome 0
          Heterotaxy Syndrome + 2
          Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
          Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 0
          Hittner Hirsch Kreh syndrome 0
          Ho Kaufman Mcalister syndrome 0
          Holt-Oram syndrome 1
          Holzgreve Wagner Rehder syndrome 0
          Hydrolethalus syndrome 0
          Hypoplastic Left Heart Syndrome 2
          Isolated Noncompaction of the Ventricular Myocardium + 1
          Jarcho-Levin syndrome + 1
          Kasznica Carlson Coppedge syndrome 0
          Kleefstra Syndrome 1
          Kozlowski Celermajer Tink syndrome 0
          LEOPARD Syndrome + 5
          Levocardia 0
          Long QT Syndrome + 37
          Lowry Maclean syndrome 0
          MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS 0
          MICROPHTHALMIA, SYNDROMIC 9 1
          Malpuech facial clefting syndrome 0
          Marcus Gunn phenomenon 0
          Marfan Syndrome + 11
          McDonough syndrome 0
          McKusick Kaufman syndrome 1
          McPherson Clemens syndrome 0
          Meacham Syndrome 0
          Mehta Lewis Patton syndrome 0
          Mexican Cardiomelic Dysplasia 0
          Microcephaly seizures mental retardation heart disorders 0
          Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 0
          Neonatal Cutis Laxa With Marfanoid Phenotype 0
          Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 0
          Noonan Syndrome + 13
          Oculofaciocardiodental syndrome 0
          Orstavik Lindemann Solberg syndrome 0
          Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 0
          Pilotto syndrome 0
          Powell Chandra Saal syndrome 0
          Pseudodiastrophic dysplasia 0
          Pulmonary Atresia with Intact Ventricular Septum 0
          Right ventricle hypoplasia 0
          Rommen Mueller Sybert syndrome 0
          Saal Bulas syndrome 0
          Sacral meningocele conotruncal heart defects 0
          Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 0
          Short QT Syndrome 1 1
          Short QT Syndrome 2 1
          Short QT Syndrome 3 1
          Simpson-Golabi-Behmel syndrome + 1
          Sonoda syndrome 0
          Steinfeld Syndrome 0
          Stratton-Parker Syndrome 0
          Subaortic Stenosis, Membranous 0
          TARP syndrome 1
          Tabatznik syndrome 0
          Tamari Goodman syndrome 0
          Ter Haar syndrome 0
          Tetralogy of Fallot + 11
          Thomas syndrome 0
          Transposition of Great Vessels + 10
          Tricuspid Atresia + 0
          Trilogy of Fallot 0
          Turner Syndrome + 0
          Uhl anomaly 0
          VACTERL association 0
          VACTERL association with hydrocephaly, X-linked 1
          VACTERL hydrocephaly 1
          VATER association 2
          Vater Association With Hydrocephalus 0
          Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
          Ventricular extrasystoles perodactyly Robin sequence 0
          Verloove-Vanhorick Brubakk syndrome 0
          Wolff-Parkinson-White Syndrome 3
          Young Simpson syndrome 0
          Zunich neuroectodermal syndrome 0
Path 2
Term Annotations click to browse term
  Diseases 30477
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 3907
      Congenital Abnormalities 1482
        Cardiovascular Abnormalities 256
          Heart Defects, Congenital 214
            22q11 Deletion Syndrome + 8
            Aarskog syndrome 1
            Al Gazali Aziz Salem syndrome 0
            Alagille Syndrome 6
            Amastia, Bilateral, With Ureteral Triplication And Dysmorphism 0
            Aortic Coarctation + 1
            Aortic Valve Disease + 1
            Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts 0
            Arrhythmogenic Right Ventricular Dysplasia + 14
            Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 0
            Axenfeld-Rieger Syndrome, Type 3 1
            Baetz-Greenwalt syndrome 0
            Barth Syndrome + 1
            Beemer Ertbruggen syndrome 0
            Bixler Christian Gorlin syndrome 0
            Blepharophimosis syndrome Ohdo type 0
            Bonneau Syndrome 0
            Burn-Mckeown syndrome 0
            CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 2
            Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 0
            Cardiac Valvular Defect, Developmental 0
            Cardiac valvular dysplasia, X-linked 1
            Cardioauditory syndrome of Sanchez Cascos 0
            Cardiocranial syndrome 0
            Cardiofaciocutaneous syndrome 4
            Chromosome 1q21.1 Duplication Syndrome 0
            Chromosome 6pter-P24 Deletion Syndrome 0
            Chromosome 9p Deletion Syndrome 0
            Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 0
            Congenital Heart Defects, X-Linked 0
            Conotruncal cardiac defects + 13
            Cor Triatriatum 0
            Coronary Vessel Anomalies + 0
            Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 0
            Cranioacrofacial Syndrome 0
            Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
            Craniofaciofrontodigital Syndrome 0
            Crisscross Heart 0
            Deafness, Congenital Heart Defects, and Posterior Embryotoxon 0
            Dextrocardia + 10
            Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
            Ductus Arteriosus, Patent + 4
            Ebstein Anomaly 0
            Ectopia Cordis 0
            Ectrodactyly cardiopathy dysmorphism 0
            Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
            Eisenmenger Complex 0
            Ellis Yale Winter syndrome 0
            Emanuel syndrome 0
            Faciocardiomelic Dysplasia, Lethal 0
            Faciocardiomelic Syndrome 0
            Faciocardiorenal syndrome 0
            Familial anomalous origin of right pulmonary artery 0
            Fragile Site 16p12 0
            Frontoocular Syndrome 0
            Gay Feinmesser Cohen syndrome 0
            Genito palato cardiac syndrome 0
            Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
            Heart Septal Defects + 32
            Heart defects limb shortening 0
            Heart-hand syndrome, Slovenian type 1
            Heart-hand syndrome, Spanish type 0
            Hecht Scott syndrome 0
            Heterotaxy Syndrome + 2
            Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
            Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 0
            Hittner Hirsch Kreh syndrome 0
            Ho Kaufman Mcalister syndrome 0
            Holt-Oram syndrome 1
            Holzgreve Wagner Rehder syndrome 0
            Hydrolethalus syndrome 0
            Hypoplastic Left Heart Syndrome 2
            Isolated Noncompaction of the Ventricular Myocardium + 1
            Jarcho-Levin syndrome + 1
            Kasznica Carlson Coppedge syndrome 0
            Kleefstra Syndrome 1
            Kozlowski Celermajer Tink syndrome 0
            LEOPARD Syndrome + 5
            Levocardia 0
            Long QT Syndrome + 37
            Lowry Maclean syndrome 0
            MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS 0
            MICROPHTHALMIA, SYNDROMIC 9 1
            Malpuech facial clefting syndrome 0
            Marcus Gunn phenomenon 0
            Marfan Syndrome + 11
            McDonough syndrome 0
            McKusick Kaufman syndrome 1
            McPherson Clemens syndrome 0
            Meacham Syndrome 0
            Mehta Lewis Patton syndrome 0
            Mexican Cardiomelic Dysplasia 0
            Microcephaly seizures mental retardation heart disorders 0
            Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 0
            Neonatal Cutis Laxa With Marfanoid Phenotype 0
            Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 0
            Noonan Syndrome + 13
            Oculofaciocardiodental syndrome 0
            Orstavik Lindemann Solberg syndrome 0
            Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 0
            Pilotto syndrome 0
            Powell Chandra Saal syndrome 0
            Pseudodiastrophic dysplasia 0
            Pulmonary Atresia with Intact Ventricular Septum 0
            Right ventricle hypoplasia 0
            Rommen Mueller Sybert syndrome 0
            Saal Bulas syndrome 0
            Sacral meningocele conotruncal heart defects 0
            Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 0
            Short QT Syndrome 1 1
            Short QT Syndrome 2 1
            Short QT Syndrome 3 1
            Simpson-Golabi-Behmel syndrome + 1
            Sonoda syndrome 0
            Steinfeld Syndrome 0
            Stratton-Parker Syndrome 0
            Subaortic Stenosis, Membranous 0
            TARP syndrome 1
            Tabatznik syndrome 0
            Tamari Goodman syndrome 0
            Ter Haar syndrome 0
            Tetralogy of Fallot + 11
            Thomas syndrome 0
            Transposition of Great Vessels + 10
            Tricuspid Atresia + 0
            Trilogy of Fallot 0
            Turner Syndrome + 0
            Uhl anomaly 0
            VACTERL association 0
            VACTERL association with hydrocephaly, X-linked 1
            VACTERL hydrocephaly 1
            VATER association 2
            Vater Association With Hydrocephalus 0
            Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
            Ventricular extrasystoles perodactyly Robin sequence 0
            Verloove-Vanhorick Brubakk syndrome 0
            Wolff-Parkinson-White Syndrome 3
            Young Simpson syndrome 0
            Zunich neuroectodermal syndrome 0
paths to the root

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