Human Phenotype Ontology 
Grandparent Node:
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Congenital malformation of the great arteries (HP:0011603)help
Parent Node:
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Conotruncal defect (HP:0001710)help
..Starting node
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Tetralogy of Fallot (HP:0001636)help
Term ID: 1636
Name: Tetralogy of Fallot
Synonym: Tetrology of fallot
Definition: A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Comments:
Reference: HP:0001636
Genes and Diseases:
 
       Child Nodes:
........expandTetralogy of Fallot with absent pulmonary valve (HP:0011659) help
........expandTetralogy of Fallot with absent subarterial conus (HP:0011676) help
........expandTetralogy of Fallot with atrioventricular canal defect (HP:0011677) help
........expandTetralogy of Fallot with pulmonary stenosis (HP:0011679) help
........expandTetralogy of Fallot with pulmonary atresia (HP:0012516) help
................... HP:0011678 Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

 Sister Nodes: 
..expandDouble outlet right ventricle (HP:0001719) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001636HP:0001636Tetralogy of Fallot0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0001636HP:0001636Tetralogy of Fallot0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001636HP:0001636Tetralogy of Fallot0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0001636HP:0001636Tetralogy of Fallot0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0001636HP:0001636Tetralogy of Fallot0ARVCF CL E G H421567ORPHA12477728602269
HP:0001636HP:0001636Tetralogy of Fallot0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0001636HP:0001636Tetralogy of Fallot0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0001636HP:0001636Tetralogy of Fallot0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0001636HP:0001636Tetralogy of Fallot0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0001636HP:0001636Tetralogy of Fallot0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0001636HP:0001636Tetralogy of Fallot0CITED2 CL E G H103703303ORPHA119321987602937
HP:0001636HP:0001636Tetralogy of Fallot0COMT CL E G H1312567ORPHA1155552228116790
HP:0001636HP:0001636Tetralogy of Fallot0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0001636HP:0001636Tetralogy of Fallot0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0001636HP:0001636Tetralogy of Fallot0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0001636HP:0001636Tetralogy of Fallot0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0001636HP:0001636Tetralogy of Fallot0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM197983801602402
HP:0001636HP:0001636Tetralogy of Fallot0GATA4 CL E G H26263303ORPHA11713414173600576
HP:0001636HP:0001636Tetralogy of Fallot0GATA4 CL E G H2626187500Tetralogy of Fallot187500C0039685OMIM11713414173600576
HP:0001636HP:0001636Tetralogy of Fallot0GATA5 CL E G H1406283303ORPHA1325015802611496
HP:0001636HP:0001636Tetralogy of Fallot0GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM1325015802611496
HP:0001636HP:0001636Tetralogy of Fallot0GATA6 CL E G H26273303ORPHA1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot0GATA6 CL E G H2627187500Tetralogy of Fallot187500C0039685OMIM1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot0GDF1 CL E G H26573303ORPHA1151494214602880
HP:0001636HP:0001636Tetralogy of Fallot0GDF1 CL E G H2657613854Transposition of the great arteries, dextro-looped 3613854C3151221OMIM1151494214602880
HP:0001636HP:0001636Tetralogy of Fallot0GJA5 CL E G H27023303ORPHA1373504279121013
HP:0001636HP:0001636Tetralogy of Fallot0GP1BB CL E G H2812567ORPHA1534044440138720
HP:0001636HP:0001636Tetralogy of Fallot0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119934908610690
HP:0001636HP:0001636Tetralogy of Fallot0HIRA CL E G H7290567ORPHA153994916600237
HP:0001636HP:0001636Tetralogy of Fallot0JAG1 CL E G H1823303ORPHA16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot0JAG1 CL E G H182187500Tetralogy of Fallot187500C0039685OMIM16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot0JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0001636HP:0001636Tetralogy of Fallot0NKX2-5 CL E G H14823303ORPHA11122152488600584
HP:0001636HP:0001636Tetralogy of Fallot0NKX2-5 CL E G H1482187500Tetralogy of Fallot187500C0039685OMIM11122152488600584
HP:0001636HP:0001636Tetralogy of Fallot0NKX2-6 CL E G H1378143303ORPHA199532940611770
HP:0001636HP:0001636Tetralogy of Fallot0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0001636HP:0001636Tetralogy of Fallot0NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM1813947882600275
HP:0001636HP:0001636Tetralogy of Fallot0NR2F2 CL E G H7026615779Congenital heart defects, multiple types, 4615779C4014310OMIM120927976107773
HP:0001636HP:0001636Tetralogy of Fallot0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0001636HP:0001636Tetralogy of Fallot0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0001636HP:0001636Tetralogy of Fallot0PIGN CL E G H235562059ORPHA1344168967606097
HP:0001636HP:0001636Tetralogy of Fallot0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0001636HP:0001636Tetralogy of Fallot0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0001636HP:0001636Tetralogy of Fallot0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0001636HP:0001636Tetralogy of Fallot0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0001636HP:0001636Tetralogy of Fallot0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001636HP:0001636Tetralogy of Fallot0RREB1 CL E G H6239567ORPHA11217110449602209
HP:0001636HP:0001636Tetralogy of Fallot0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0001636HP:0001636Tetralogy of Fallot0SEC24C CL E G H9632567ORPHA12410705607185
HP:0001636HP:0001636Tetralogy of Fallot0SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0001636HP:0001636Tetralogy of Fallot0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0001636HP:0001636Tetralogy of Fallot0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0001636HP:0001636Tetralogy of Fallot0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM13319430650610745
HP:0001636HP:0001636Tetralogy of Fallot0TAB2 CL E G H23118614980Congenital heart defects, multiple types, 2614980C3554279OMIM1335317075605101
HP:0001636HP:0001636Tetralogy of Fallot0TBX1 CL E G H68993303ORPHA18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot0TBX1 CL E G H6899567ORPHA18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot0TBX1 CL E G H6899187500Tetralogy of Fallot187500C0039685OMIM18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot0TMEM260 CL E G H54916617478Structural heart defects and renal anomalies syndrome617478C4479549OMIM133420185617449
HP:0001636HP:0001636Tetralogy of Fallot0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0001636HP:0001636Tetralogy of Fallot0UFD1 CL E G H7353567ORPHA1436812520601754
HP:0001636HP:0001636Tetralogy of Fallot0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001636HP:0001636Tetralogy of Fallot0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0001636HP:0001636Tetralogy of Fallot0ZFPM2 CL E G H234143303ORPHA15214216700603693
HP:0001636HP:0001636Tetralogy of Fallot0ZFPM2 CL E G H23414187500Tetralogy of Fallot187500C0039685OMIM15214216700603693
HP:0001636HP:0001636Tetralogy of Fallot1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0001636HP:0001636Tetralogy of Fallot1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001636HP:0001636Tetralogy of Fallot1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0001636HP:0001636Tetralogy of Fallot1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0001636HP:0001636Tetralogy of Fallot1ARVCF CL E G H421567ORPHA12477728602269
HP:0001636HP:0001636Tetralogy of Fallot1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0001636HP:0001636Tetralogy of Fallot1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0001636HP:0001636Tetralogy of Fallot1CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0001636HP:0001636Tetralogy of Fallot1CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0001636HP:0001636Tetralogy of Fallot1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0001636HP:0001636Tetralogy of Fallot1CITED2 CL E G H103703303ORPHA119321987602937
HP:0001636HP:0001636Tetralogy of Fallot1COMT CL E G H1312567ORPHA1155552228116790
HP:0001636HP:0001636Tetralogy of Fallot1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0001636HP:0001636Tetralogy of Fallot1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0001636HP:0001636Tetralogy of Fallot1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0001636HP:0001636Tetralogy of Fallot1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0001636HP:0001636Tetralogy of Fallot1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM197983801602402
HP:0001636HP:0001636Tetralogy of Fallot1GATA4 CL E G H26263303ORPHA11713414173600576
HP:0001636HP:0001636Tetralogy of Fallot1GATA4 CL E G H2626187500Tetralogy of Fallot187500C0039685OMIM11713414173600576
HP:0001636HP:0001636Tetralogy of Fallot1GATA5 CL E G H1406283303ORPHA1325015802611496
HP:0001636HP:0001636Tetralogy of Fallot1GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM1325015802611496
HP:0001636HP:0001636Tetralogy of Fallot1GATA6 CL E G H26273303ORPHA1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot1GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot1GATA6 CL E G H2627187500Tetralogy of Fallot187500C0039685OMIM1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot1GDF1 CL E G H26573303ORPHA1151494214602880
HP:0001636HP:0001636Tetralogy of Fallot1GDF1 CL E G H2657613854Transposition of the great arteries, dextro-looped 3613854C3151221OMIM1151494214602880
HP:0001636HP:0001636Tetralogy of Fallot1GJA5 CL E G H27023303ORPHA1373504279121013
HP:0001636HP:0001636Tetralogy of Fallot1GP1BB CL E G H2812567ORPHA1534044440138720
HP:0001636HP:0001636Tetralogy of Fallot1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119934908610690
HP:0001636HP:0001636Tetralogy of Fallot1HIRA CL E G H7290567ORPHA153994916600237
HP:0001636HP:0001636Tetralogy of Fallot1JAG1 CL E G H1823303ORPHA16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot1JAG1 CL E G H182187500Tetralogy of Fallot187500C0039685OMIM16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot1JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0001636HP:0001636Tetralogy of Fallot1NKX2-5 CL E G H14823303ORPHA11122152488600584
HP:0001636HP:0001636Tetralogy of Fallot1NKX2-5 CL E G H1482187500Tetralogy of Fallot187500C0039685OMIM11122152488600584
HP:0001636HP:0001636Tetralogy of Fallot1NKX2-6 CL E G H1378143303ORPHA199532940611770
HP:0001636HP:0001636Tetralogy of Fallot1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0001636HP:0001636Tetralogy of Fallot1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM1813947882600275
HP:0001636HP:0001636Tetralogy of Fallot1NR2F2 CL E G H7026615779Congenital heart defects, multiple types, 4615779C4014310OMIM120927976107773
HP:0001636HP:0001636Tetralogy of Fallot1PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0001636HP:0001636Tetralogy of Fallot1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0001636HP:0001636Tetralogy of Fallot1PIGN CL E G H235562059ORPHA1344168967606097
HP:0001636HP:0001636Tetralogy of Fallot1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0001636HP:0001636Tetralogy of Fallot1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0001636HP:0001636Tetralogy of Fallot1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0001636HP:0001636Tetralogy of Fallot1RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0001636HP:0001636Tetralogy of Fallot1RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001636HP:0001636Tetralogy of Fallot1RREB1 CL E G H6239567ORPHA11217110449602209
HP:0001636HP:0001636Tetralogy of Fallot1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0001636HP:0001636Tetralogy of Fallot1SEC24C CL E G H9632567ORPHA12410705607185
HP:0001636HP:0001636Tetralogy of Fallot1SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0001636HP:0001636Tetralogy of Fallot1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0001636HP:0001636Tetralogy of Fallot1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0001636HP:0001636Tetralogy of Fallot1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM13319430650610745
HP:0001636HP:0001636Tetralogy of Fallot1TAB2 CL E G H23118614980Congenital heart defects, multiple types, 2614980C3554279OMIM1335317075605101
HP:0001636HP:0001636Tetralogy of Fallot1TBX1 CL E G H6899567ORPHA18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot1TBX1 CL E G H68993303ORPHA18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot1TBX1 CL E G H6899187500Tetralogy of Fallot187500C0039685OMIM18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot1TMEM260 CL E G H54916617478Structural heart defects and renal anomalies syndrome617478C4479549OMIM133420185617449
HP:0001636HP:0001636Tetralogy of Fallot1TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0001636HP:0001636Tetralogy of Fallot1UFD1 CL E G H7353567ORPHA1436812520601754
HP:0001636HP:0001636Tetralogy of Fallot1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001636HP:0001636Tetralogy of Fallot1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0001636HP:0001636Tetralogy of Fallot1ZFPM2 CL E G H234143303ORPHA15214216700603693
HP:0001636HP:0001636Tetralogy of Fallot1ZFPM2 CL E G H23414187500Tetralogy of Fallot187500C0039685OMIM15214216700603693
HP:0001636HP:0001636Tetralogy of Fallot2ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0001636HP:0001636Tetralogy of Fallot2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001636HP:0001636Tetralogy of Fallot2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0001636HP:0001636Tetralogy of Fallot2ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0001636HP:0001636Tetralogy of Fallot2ARVCF CL E G H421567ORPHA12477728602269
HP:0001636HP:0001636Tetralogy of Fallot2BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0001636HP:0001636Tetralogy of Fallot2CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0001636HP:0001636Tetralogy of Fallot2CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0001636HP:0001636Tetralogy of Fallot2CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0001636HP:0001636Tetralogy of Fallot2CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0001636HP:0001636Tetralogy of Fallot2CITED2 CL E G H103703303ORPHA119321987602937
HP:0001636HP:0001636Tetralogy of Fallot2COMT CL E G H1312567ORPHA1155552228116790
HP:0001636HP:0001636Tetralogy of Fallot2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0001636HP:0001636Tetralogy of Fallot2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0001636HP:0001636Tetralogy of Fallot2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0001636HP:0001636Tetralogy of Fallot2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0001636HP:0001636Tetralogy of Fallot2FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM197983801602402
HP:0001636HP:0001636Tetralogy of Fallot2GATA4 CL E G H26263303ORPHA11713414173600576
HP:0001636HP:0001636Tetralogy of Fallot2GATA4 CL E G H2626187500Tetralogy of Fallot187500C0039685OMIM11713414173600576
HP:0001636HP:0001636Tetralogy of Fallot2GATA5 CL E G H1406283303ORPHA1325015802611496
HP:0001636HP:0001636Tetralogy of Fallot2GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM1325015802611496
HP:0001636HP:0001636Tetralogy of Fallot2GATA6 CL E G H26273303ORPHA1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot2GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot2GATA6 CL E G H2627187500Tetralogy of Fallot187500C0039685OMIM1851724174601656
HP:0001636HP:0001636Tetralogy of Fallot2GDF1 CL E G H26573303ORPHA1151494214602880
HP:0001636HP:0001636Tetralogy of Fallot2GDF1 CL E G H2657613854Transposition of the great arteries, dextro-looped 3613854C3151221OMIM1151494214602880
HP:0001636HP:0001636Tetralogy of Fallot2GJA5 CL E G H27023303ORPHA1373504279121013
HP:0001636HP:0001636Tetralogy of Fallot2GP1BB CL E G H2812567ORPHA1534044440138720
HP:0001636HP:0001636Tetralogy of Fallot2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119934908610690
HP:0001636HP:0001636Tetralogy of Fallot2HIRA CL E G H7290567ORPHA153994916600237
HP:0001636HP:0001636Tetralogy of Fallot2JAG1 CL E G H1823303ORPHA16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot2JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot2JAG1 CL E G H182187500Tetralogy of Fallot187500C0039685OMIM16206456188601920
HP:0001636HP:0001636Tetralogy of Fallot2JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0001636HP:0001636Tetralogy of Fallot2NKX2-5 CL E G H14823303ORPHA11122152488600584
HP:0001636HP:0001636Tetralogy of Fallot2NKX2-5 CL E G H1482187500Tetralogy of Fallot187500C0039685OMIM11122152488600584
HP:0001636HP:0001636Tetralogy of Fallot2NKX2-6 CL E G H1378143303ORPHA199532940611770
HP:0001636HP:0001636Tetralogy of Fallot2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0001636HP:0001636Tetralogy of Fallot2NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM1813947882600275
HP:0001636HP:0001636Tetralogy of Fallot2NR2F2 CL E G H7026615779Congenital heart defects, multiple types, 4615779C4014310OMIM120927976107773
HP:0001636HP:0001636Tetralogy of Fallot2PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0001636HP:0001636Tetralogy of Fallot2PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0001636HP:0001636Tetralogy of Fallot2PIGN CL E G H235562059ORPHA1344168967606097
HP:0001636HP:0001636Tetralogy of Fallot2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0001636HP:0001636Tetralogy of Fallot2RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0001636HP:0001636Tetralogy of Fallot2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0001636HP:0001636Tetralogy of Fallot2RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0001636HP:0001636Tetralogy of Fallot2RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001636HP:0001636Tetralogy of Fallot2RREB1 CL E G H6239567ORPHA11217110449602209
HP:0001636HP:0001636Tetralogy of Fallot2SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0001636HP:0001636Tetralogy of Fallot2SEC24C CL E G H9632567ORPHA12410705607185
HP:0001636HP:0001636Tetralogy of Fallot2SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0001636HP:0001636Tetralogy of Fallot2SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0001636HP:0001636Tetralogy of Fallot2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0001636HP:0001636Tetralogy of Fallot2STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM13319430650610745
HP:0001636HP:0001636Tetralogy of Fallot2TAB2 CL E G H23118614980Congenital heart defects, multiple types, 2614980C3554279OMIM1335317075605101
HP:0001636HP:0001636Tetralogy of Fallot2TBX1 CL E G H6899567ORPHA18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot2TBX1 CL E G H68993303ORPHA18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot2TBX1 CL E G H6899187500Tetralogy of Fallot187500C0039685OMIM18255311592602054
HP:0001636HP:0001636Tetralogy of Fallot2TMEM260 CL E G H54916617478Structural heart defects and renal anomalies syndrome617478C4479549OMIM133420185617449
HP:0001636HP:0001636Tetralogy of Fallot2TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0001636HP:0001636Tetralogy of Fallot2UFD1 CL E G H7353567ORPHA1436812520601754
HP:0001636HP:0001636Tetralogy of Fallot2WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001636HP:0001636Tetralogy of Fallot2WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0001636HP:0001636Tetralogy of Fallot2ZFPM2 CL E G H234143303ORPHA15214216700603693
HP:0001636HP:0001636Tetralogy of Fallot2ZFPM2 CL E G H23414187500Tetralogy of Fallot187500C0039685OMIM15214216700603693
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001636HP:0001636Tetralogy of Fallot0ALX1 CL E G H8092306542ORPHA05291494601527
HP:0001636HP:0001636Tetralogy of Fallot0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0001636HP:0001636Tetralogy of Fallot0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0001636HP:0001636Tetralogy of Fallot0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0001636HP:0001636Tetralogy of Fallot0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0001636HP:0001636Tetralogy of Fallot0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM07412431390114205
HP:0001636HP:0001636Tetralogy of Fallot0CDON CL E G H50937280200ORPHA01339117104608707
HP:0001636HP:0001636Tetralogy of Fallot0CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA08891952118494
HP:0001636HP:0001636Tetralogy of Fallot0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0001636HP:0001636Tetralogy of Fallot0COL2A1 CL E G H128093315ORPHA05707312200120140
HP:0001636HP:0001636Tetralogy of Fallot0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0001636HP:0001636Tetralogy of Fallot0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0001636HP:0001636Tetralogy of Fallot0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM07972736601150
HP:0001636HP:0001636Tetralogy of Fallot0DDX59 CL E G H834792919ORPHA063425360615464
HP:0001636HP:0001636Tetralogy of Fallot0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM033902845600594
HP:0001636HP:0001636Tetralogy of Fallot0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM033172846601279
HP:0001636HP:0001636Tetralogy of Fallot0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM023812847609030
HP:0001636HP:0001636Tetralogy of Fallot0DISP1 CL E G H84976280200ORPHA01110019711607502
HP:0001636HP:0001636Tetralogy of Fallot0DLL1 CL E G H28514280200ORPHA0191322908606582
HP:0001636HP:0001636Tetralogy of Fallot0EHMT1 CL E G H7981396147ORPHA09474624650607001
HP:0001636HP:0001636Tetralogy of Fallot0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0001636HP:0001636Tetralogy of Fallot0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0001636HP:0001636Tetralogy of Fallot0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM0138216817601755
HP:0001636HP:0001636Tetralogy of Fallot0FANCA CL E G H217584ORPHA068917063582607139
HP:0001636HP:0001636Tetralogy of Fallot0FANCB CL E G H218784ORPHA0213523583300515
HP:0001636HP:0001636Tetralogy of Fallot0FANCC CL E G H217684ORPHA0658823584613899
HP:0001636HP:0001636Tetralogy of Fallot0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0001636HP:0001636Tetralogy of Fallot0FANCE CL E G H217884ORPHA0172013586613976
HP:0001636HP:0001636Tetralogy of Fallot0FANCF CL E G H218884ORPHA0162023587613897
HP:0001636HP:0001636Tetralogy of Fallot0FANCG CL E G H218984ORPHA0923253588602956
HP:0001636HP:0001636Tetralogy of Fallot0FANCI CL E G H5521584ORPHA04552125568611360
HP:0001636HP:0001636Tetralogy of Fallot0FANCL CL E G H5512084ORPHA02417620748608111
HP:0001636HP:0001636Tetralogy of Fallot0FANCM CL E G H5769784ORPHA05369723168609644
HP:0001636HP:0001636Tetralogy of Fallot0FGF8 CL E G H2253280200ORPHA041543686600483
HP:0001636HP:0001636Tetralogy of Fallot0FGFR1 CL E G H2260280200ORPHA02653883688136350
HP:0001636HP:0001636Tetralogy of Fallot0FIG4 CL E G H98963472MeningococcemiaORPHA07142516873609390
HP:0001636HP:0001636Tetralogy of Fallot0FN1 CL E G H233593315ORPHA0261283778135600
HP:0001636HP:0001636Tetralogy of Fallot0FOXF1 CL E G H2294210122ORPHA01021103809601089
HP:0001636HP:0001636Tetralogy of Fallot0FOXH1 CL E G H8928280200ORPHA0331883814603621
HP:0001636HP:0001636Tetralogy of Fallot0GABRD CL E G H25631606ORPHA072784084137163
HP:0001636HP:0001636Tetralogy of Fallot0GAS1 CL E G H2619280200ORPHA06424165139185
HP:0001636HP:0001636Tetralogy of Fallot0GATA4 CL E G H2626251071ORPHA01713414173600576
HP:0001636HP:0001636Tetralogy of Fallot0GATA4 CL E G H2626615542Testicular anomalies with or without congenital heart disease615542C3809858OMIM01713414173600576
HP:0001636HP:0001636Tetralogy of Fallot0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA0851724174601656
HP:0001636HP:0001636Tetralogy of Fallot0GDF1 CL E G H2657208530Bilateral right-sidedness sequence208530C0175707OMIM0151494214602880
HP:0001636HP:0001636Tetralogy of Fallot0GLI2 CL E G H2736280200ORPHA0883724318165230
HP:0001636HP:0001636Tetralogy of Fallot0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0001636HP:0001636Tetralogy of Fallot0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0001636HP:0001636Tetralogy of Fallot0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0001636HP:0001636Tetralogy of Fallot0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM0123229239610621
HP:0001636HP:0001636Tetralogy of Fallot0KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0001636HP:0001636Tetralogy of Fallot0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0001636HP:0001636Tetralogy of Fallot0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0001636HP:0001636Tetralogy of Fallot0MKKS CL E G H81952473ORPHA0601947108604896
HP:0001636HP:0001636Tetralogy of Fallot0NKX2-5 CL E G H1482108900Atrial septal defect 7 with or without atrioventricular conduction defects108900C3276096OMIM01122152488600584
HP:0001636HP:0001636Tetralogy of Fallot0NODAL CL E G H4838280200ORPHA0251017865601265
HP:0001636HP:0001636Tetralogy of Fallot0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA0513018008612895
HP:0001636HP:0001636Tetralogy of Fallot0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0001636HP:0001636Tetralogy of Fallot0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0001636HP:0001636Tetralogy of Fallot0PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0001636HP:0001636Tetralogy of Fallot0PTCH1 CL E G H5727280200ORPHA052920319585601309
HP:0001636HP:0001636Tetralogy of Fallot0RAD51 CL E G H588884ORPHA016369817179617
HP:0001636HP:0001636Tetralogy of Fallot0RAD51C CL E G H588984ORPHA013111309820602774
HP:0001636HP:0001636Tetralogy of Fallot0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM0101979896300080
HP:0001636HP:0001636Tetralogy of Fallot0RBM8A CL E G H99393320ORPHA0142059905605313
HP:0001636HP:0001636Tetralogy of Fallot0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM0142059905605313
HP:0001636HP:0001636Tetralogy of Fallot0RERE CL E G H4731606ORPHA0251619965605226
HP:0001636HP:0001636Tetralogy of Fallot0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0001636HP:0001636Tetralogy of Fallot0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0001636HP:0001636Tetralogy of Fallot0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA04025810257602337
HP:0001636HP:0001636Tetralogy of Fallot0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM0456110301604175
HP:0001636HP:0001636Tetralogy of Fallot0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0001636HP:0001636Tetralogy of Fallot0SALL4 CL E G H57167959ORPHA05714815924607343
HP:0001636HP:0001636Tetralogy of Fallot0SHH CL E G H6469280200ORPHA022121010848600725
HP:0001636HP:0001636Tetralogy of Fallot0SIX3 CL E G H6496280200ORPHA0919010889603714
HP:0001636HP:0001636Tetralogy of Fallot0SKI CL E G H64971606ORPHA02450210896164780
HP:0001636HP:0001636Tetralogy of Fallot0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0001636HP:0001636Tetralogy of Fallot0SPECC1L CL E G H233841519ORPHA0815629022614140
HP:0001636HP:0001636Tetralogy of Fallot0SUFU CL E G H51684280200ORPHA04753316466607035
HP:0001636HP:0001636Tetralogy of Fallot0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0001636HP:0001636Tetralogy of Fallot0TBX1 CL E G H68991727ORPHA08255311592602054
HP:0001636HP:0001636Tetralogy of Fallot0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM08255311592602054
HP:0001636HP:0001636Tetralogy of Fallot0TDGF1 CL E G H6997280200ORPHA061411701187395
HP:0001636HP:0001636Tetralogy of Fallot0TGIF1 CL E G H7050280200ORPHA02817011776602630
HP:0001636HP:0001636Tetralogy of Fallot0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM06412823639614589
HP:0001636HP:0001636Tetralogy of Fallot0UBE2T CL E G H2908984ORPHA071825009610538
HP:0001636HP:0001636Tetralogy of Fallot0VAC14 CL E G H556973472MeningococcemiaORPHA077725507604632
HP:0001636HP:0001636Tetralogy of Fallot0WT1 CL E G H74903097ORPHA018463512796607102
HP:0001636HP:0001636Tetralogy of Fallot0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0001636HP:0001636Tetralogy of Fallot0ZIC2 CL E G H7546280200ORPHA012315412873603073
HP:0001636HP:0001636Tetralogy of Fallot1ALX1 CL E G H8092306542ORPHA05291494601527
HP:0001636HP:0001636Tetralogy of Fallot1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0001636HP:0001636Tetralogy of Fallot1BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0001636HP:0001636Tetralogy of Fallot1BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0001636HP:0001636Tetralogy of Fallot1BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0001636HP:0001636Tetralogy of Fallot1CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM07412431390114205
HP:0001636HP:0001636Tetralogy of Fallot1CDON CL E G H50937280200ORPHA01339117104608707
HP:0001636HP:0001636Tetralogy of Fallot1CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA08891952118494
HP:0001636HP:0001636Tetralogy of Fallot1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0001636HP:0001636Tetralogy of Fallot1COL2A1 CL E G H128093315ORPHA05707312200120140
HP:0001636HP:0001636Tetralogy of Fallot1COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0001636HP:0001636Tetralogy of Fallot1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0001636HP:0001636Tetralogy of Fallot1DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM07972736601150
HP:0001636HP:0001636Tetralogy of Fallot1DDX59 CL E G H834792919ORPHA063425360615464
HP:0001636HP:0001636Tetralogy of Fallot1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM033902845600594
HP:0001636HP:0001636Tetralogy of Fallot1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM033172846601279
HP:0001636HP:0001636Tetralogy of Fallot1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM023812847609030
HP:0001636HP:0001636Tetralogy of Fallot1DISP1 CL E G H84976280200ORPHA01110019711607502
HP:0001636HP:0001636Tetralogy of Fallot1DLL1 CL E G H28514280200ORPHA0191322908606582
HP:0001636HP:0001636Tetralogy of Fallot1EHMT1 CL E G H7981396147ORPHA09474624650607001
HP:0001636HP:0001636Tetralogy of Fallot1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0001636HP:0001636Tetralogy of Fallot1ERCC4 CL E G H207284ORPHA0723483436133520
HP:0001636HP:0001636Tetralogy of Fallot1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM0138216817601755
HP:0001636HP:0001636Tetralogy of Fallot1FANCA CL E G H217584ORPHA068917063582607139
HP:0001636HP:0001636Tetralogy of Fallot1FANCB CL E G H218784ORPHA0213523583300515
HP:0001636HP:0001636Tetralogy of Fallot1FANCC CL E G H217684ORPHA0658823584613899
HP:0001636HP:0001636Tetralogy of Fallot1FANCD2 CL E G H217784ORPHA0644293585613984
HP:0001636HP:0001636Tetralogy of Fallot1FANCE CL E G H217884ORPHA0172013586613976
HP:0001636HP:0001636Tetralogy of Fallot1FANCF CL E G H218884ORPHA0162023587613897
HP:0001636HP:0001636Tetralogy of Fallot1FANCG CL E G H218984ORPHA0923253588602956
HP:0001636HP:0001636Tetralogy of Fallot1FANCI CL E G H5521584ORPHA04552125568611360
HP:0001636HP:0001636Tetralogy of Fallot1FANCL CL E G H5512084ORPHA02417620748608111
HP:0001636HP:0001636Tetralogy of Fallot1FANCM CL E G H5769784ORPHA05369723168609644
HP:0001636HP:0001636Tetralogy of Fallot1FGF8 CL E G H2253280200ORPHA041543686600483
HP:0001636HP:0001636Tetralogy of Fallot1FGFR1 CL E G H2260280200ORPHA02653883688136350
HP:0001636HP:0001636Tetralogy of Fallot1FIG4 CL E G H98963472MeningococcemiaORPHA07142516873609390
HP:0001636HP:0001636Tetralogy of Fallot1FN1 CL E G H233593315ORPHA0261283778135600
HP:0001636HP:0001636Tetralogy of Fallot1FOXF1 CL E G H2294210122ORPHA01021103809601089
HP:0001636HP:0001636Tetralogy of Fallot1FOXH1 CL E G H8928280200ORPHA0331883814603621
HP:0001636HP:0001636Tetralogy of Fallot1GABRD CL E G H25631606ORPHA072784084137163
HP:0001636HP:0001636Tetralogy of Fallot1GAS1 CL E G H2619280200ORPHA06424165139185
HP:0001636HP:0001636Tetralogy of Fallot1GATA4 CL E G H2626251071ORPHA01713414173600576
HP:0001636HP:0001636Tetralogy of Fallot1GATA4 CL E G H2626615542Testicular anomalies with or without congenital heart disease615542C3809858OMIM01713414173600576
HP:0001636HP:0001636Tetralogy of Fallot1GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA0851724174601656
HP:0001636HP:0001636Tetralogy of Fallot1GDF1 CL E G H2657208530Bilateral right-sidedness sequence208530C0175707OMIM0151494214602880
HP:0001636HP:0001636Tetralogy of Fallot1GLI2 CL E G H2736280200ORPHA0883724318165230
HP:0001636HP:0001636Tetralogy of Fallot1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0001636HP:0001636Tetralogy of Fallot1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0001636HP:0001636Tetralogy of Fallot1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0001636HP:0001636Tetralogy of Fallot1INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM0123229239610621
HP:0001636HP:0001636Tetralogy of Fallot1KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0001636HP:0001636Tetralogy of Fallot1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0001636HP:0001636Tetralogy of Fallot1MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0001636HP:0001636Tetralogy of Fallot1MKKS CL E G H81952473ORPHA0601947108604896
HP:0001636HP:0001636Tetralogy of Fallot1NKX2-5 CL E G H1482108900Atrial septal defect 7 with or without atrioventricular conduction defects108900C3276096OMIM01122152488600584
HP:0001636HP:0001636Tetralogy of Fallot1NODAL CL E G H4838280200ORPHA0251017865601265
HP:0001636HP:0001636Tetralogy of Fallot1NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA0513018008612895
HP:0001636HP:0001636Tetralogy of Fallot1PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0001636HP:0001636Tetralogy of Fallot1PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0001636HP:0001636Tetralogy of Fallot1PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0001636HP:0001636Tetralogy of Fallot1PTCH1 CL E G H5727280200ORPHA052920319585601309
HP:0001636HP:0001636Tetralogy of Fallot1RAD51 CL E G H588884ORPHA016369817179617
HP:0001636HP:0001636Tetralogy of Fallot1RAD51C CL E G H588984ORPHA013111309820602774
HP:0001636HP:0001636Tetralogy of Fallot1RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM0101979896300080
HP:0001636HP:0001636Tetralogy of Fallot1RBM8A CL E G H99393320ORPHA0142059905605313
HP:0001636HP:0001636Tetralogy of Fallot1RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM0142059905605313
HP:0001636HP:0001636Tetralogy of Fallot1RERE CL E G H4731606ORPHA0251619965605226
HP:0001636HP:0001636Tetralogy of Fallot1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0001636HP:0001636Tetralogy of Fallot1RFWD3 CL E G H5515984ORPHA024925539614151
HP:0001636HP:0001636Tetralogy of Fallot1ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA04025810257602337
HP:0001636HP:0001636Tetralogy of Fallot1RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM0456110301604175
HP:0001636HP:0001636Tetralogy of Fallot1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0001636HP:0001636Tetralogy of Fallot1SALL4 CL E G H57167959ORPHA05714815924607343
HP:0001636HP:0001636Tetralogy of Fallot1SHH CL E G H6469280200ORPHA022121010848600725
HP:0001636HP:0001636Tetralogy of Fallot1SIX3 CL E G H6496280200ORPHA0919010889603714
HP:0001636HP:0001636Tetralogy of Fallot1SKI CL E G H64971606ORPHA02450210896164780
HP:0001636HP:0001636Tetralogy of Fallot1SLX4 CL E G H8446484ORPHA07281823845613278
HP:0001636HP:0001636Tetralogy of Fallot1SPECC1L CL E G H233841519ORPHA0815629022614140
HP:0001636HP:0001636Tetralogy of Fallot1SUFU CL E G H51684280200ORPHA04753316466607035
HP:0001636HP:0001636Tetralogy of Fallot1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0001636HP:0001636Tetralogy of Fallot1TBX1 CL E G H68991727ORPHA08255311592602054
HP:0001636HP:0001636Tetralogy of Fallot1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM08255311592602054
HP:0001636HP:0001636Tetralogy of Fallot1TDGF1 CL E G H6997280200ORPHA061411701187395
HP:0001636HP:0001636Tetralogy of Fallot1TGIF1 CL E G H7050280200ORPHA02817011776602630
HP:0001636HP:0001636Tetralogy of Fallot1TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM06412823639614589
HP:0001636HP:0001636Tetralogy of Fallot1UBE2T CL E G H2908984ORPHA071825009610538
HP:0001636HP:0001636Tetralogy of Fallot1VAC14 CL E G H556973472MeningococcemiaORPHA077725507604632
HP:0001636HP:0001636Tetralogy of Fallot1WT1 CL E G H74903097ORPHA018463512796607102
HP:0001636HP:0001636Tetralogy of Fallot1XRCC2 CL E G H751684ORPHA02335812829600375
HP:0001636HP:0001636Tetralogy of Fallot1ZIC2 CL E G H7546280200ORPHA012315412873603073
HP:0001636HP:0001636Tetralogy of Fallot2ALX1 CL E G H8092306542ORPHA05291494601527
HP:0001636HP:0001636Tetralogy of Fallot2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0001636HP:0001636Tetralogy of Fallot2BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0001636HP:0001636Tetralogy of Fallot2BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0001636HP:0001636Tetralogy of Fallot2BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0001636HP:0001636Tetralogy of Fallot2CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM07412431390114205
HP:0001636HP:0001636Tetralogy of Fallot2CDON CL E G H50937280200ORPHA01339117104608707
HP:0001636HP:0001636Tetralogy of Fallot2CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA08891952118494
HP:0001636HP:0001636Tetralogy of Fallot2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0001636HP:0001636Tetralogy of Fallot2COL2A1 CL E G H128093315ORPHA05707312200120140
HP:0001636HP:0001636Tetralogy of Fallot2COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0001636HP:0001636Tetralogy of Fallot2DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0001636HP:0001636Tetralogy of Fallot2DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM07972736601150
HP:0001636HP:0001636Tetralogy of Fallot2DDX59 CL E G H834792919ORPHA063425360615464
HP:0001636HP:0001636Tetralogy of Fallot2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM033902845600594
HP:0001636HP:0001636Tetralogy of Fallot2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM033172846601279
HP:0001636HP:0001636Tetralogy of Fallot2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM023812847609030
HP:0001636HP:0001636Tetralogy of Fallot2DISP1 CL E G H84976280200ORPHA01110019711607502
HP:0001636HP:0001636Tetralogy of Fallot2DLL1 CL E G H28514280200ORPHA0191322908606582
HP:0001636HP:0001636Tetralogy of Fallot2EHMT1 CL E G H7981396147ORPHA09474624650607001
HP:0001636HP:0001636Tetralogy of Fallot2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0001636HP:0001636Tetralogy of Fallot2ERCC4 CL E G H207284ORPHA0723483436133520
HP:0001636HP:0001636Tetralogy of Fallot2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM0138216817601755
HP:0001636HP:0001636Tetralogy of Fallot2FANCA CL E G H217584ORPHA068917063582607139
HP:0001636HP:0001636Tetralogy of Fallot2FANCB CL E G H218784ORPHA0213523583300515
HP:0001636HP:0001636Tetralogy of Fallot2FANCC CL E G H217684ORPHA0658823584613899
HP:0001636HP:0001636Tetralogy of Fallot2FANCD2 CL E G H217784ORPHA0644293585613984
HP:0001636HP:0001636Tetralogy of Fallot2FANCE CL E G H217884ORPHA0172013586613976
HP:0001636HP:0001636Tetralogy of Fallot2FANCF CL E G H218884ORPHA0162023587613897
HP:0001636HP:0001636Tetralogy of Fallot2FANCG CL E G H218984ORPHA0923253588602956
HP:0001636HP:0001636Tetralogy of Fallot2FANCI CL E G H5521584ORPHA04552125568611360
HP:0001636HP:0001636Tetralogy of Fallot2FANCL CL E G H5512084ORPHA02417620748608111
HP:0001636HP:0001636Tetralogy of Fallot2FANCM CL E G H5769784ORPHA05369723168609644
HP:0001636HP:0001636Tetralogy of Fallot2FGF8 CL E G H2253280200ORPHA041543686600483
HP:0001636HP:0001636Tetralogy of Fallot2FGFR1 CL E G H2260280200ORPHA02653883688136350
HP:0001636HP:0001636Tetralogy of Fallot2FIG4 CL E G H98963472MeningococcemiaORPHA07142516873609390
HP:0001636HP:0001636Tetralogy of Fallot2FN1 CL E G H233593315ORPHA0261283778135600
HP:0001636HP:0001636Tetralogy of Fallot2FOXF1 CL E G H2294210122ORPHA01021103809601089
HP:0001636HP:0001636Tetralogy of Fallot2FOXH1 CL E G H8928280200ORPHA0331883814603621
HP:0001636HP:0001636Tetralogy of Fallot2GABRD CL E G H25631606ORPHA072784084137163
HP:0001636HP:0001636Tetralogy of Fallot2GAS1 CL E G H2619280200ORPHA06424165139185
HP:0001636HP:0001636Tetralogy of Fallot2GATA4 CL E G H2626251071ORPHA01713414173600576
HP:0001636HP:0001636Tetralogy of Fallot2GATA4 CL E G H2626615542Testicular anomalies with or without congenital heart disease615542C3809858OMIM01713414173600576
HP:0001636HP:0001636Tetralogy of Fallot2GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA0851724174601656
HP:0001636HP:0001636Tetralogy of Fallot2GDF1 CL E G H2657208530Bilateral right-sidedness sequence208530C0175707OMIM0151494214602880
HP:0001636HP:0001636Tetralogy of Fallot2GLI2 CL E G H2736280200ORPHA0883724318165230
HP:0001636HP:0001636Tetralogy of Fallot2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0001636HP:0001636Tetralogy of Fallot2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0001636HP:0001636Tetralogy of Fallot2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0001636HP:0001636Tetralogy of Fallot2INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM0123229239610621
HP:0001636HP:0001636Tetralogy of Fallot2KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0001636HP:0001636Tetralogy of Fallot2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0001636HP:0001636Tetralogy of Fallot2MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0001636HP:0001636Tetralogy of Fallot2MKKS CL E G H81952473ORPHA0601947108604896
HP:0001636HP:0001636Tetralogy of Fallot2NKX2-5 CL E G H1482108900Atrial septal defect 7 with or without atrioventricular conduction defects108900C3276096OMIM01122152488600584
HP:0001636HP:0001636Tetralogy of Fallot2NODAL CL E G H4838280200ORPHA0251017865601265
HP:0001636HP:0001636Tetralogy of Fallot2NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA0513018008612895
HP:0001636HP:0001636Tetralogy of Fallot2PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0001636HP:0001636Tetralogy of Fallot2PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0001636HP:0001636Tetralogy of Fallot2PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0001636HP:0001636Tetralogy of Fallot2PTCH1 CL E G H5727280200ORPHA052920319585601309
HP:0001636HP:0001636Tetralogy of Fallot2RAD51 CL E G H588884ORPHA016369817179617
HP:0001636HP:0001636Tetralogy of Fallot2RAD51C CL E G H588984ORPHA013111309820602774
HP:0001636HP:0001636Tetralogy of Fallot2RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM0101979896300080
HP:0001636HP:0001636Tetralogy of Fallot2RBM8A CL E G H99393320ORPHA0142059905605313
HP:0001636HP:0001636Tetralogy of Fallot2RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM0142059905605313
HP:0001636HP:0001636Tetralogy of Fallot2RERE CL E G H4731606ORPHA0251619965605226
HP:0001636HP:0001636Tetralogy of Fallot2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0001636HP:0001636Tetralogy of Fallot2RFWD3 CL E G H5515984ORPHA024925539614151
HP:0001636HP:0001636Tetralogy of Fallot2ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA04025810257602337
HP:0001636HP:0001636Tetralogy of Fallot2RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM0456110301604175
HP:0001636HP:0001636Tetralogy of Fallot2SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0001636HP:0001636Tetralogy of Fallot2SALL4 CL E G H57167959ORPHA05714815924607343
HP:0001636HP:0001636Tetralogy of Fallot2SHH CL E G H6469280200ORPHA022121010848600725
HP:0001636HP:0001636Tetralogy of Fallot2SIX3 CL E G H6496280200ORPHA0919010889603714
HP:0001636HP:0001636Tetralogy of Fallot2SKI CL E G H64971606ORPHA02450210896164780
HP:0001636HP:0001636Tetralogy of Fallot2SLX4 CL E G H8446484ORPHA07281823845613278
HP:0001636HP:0001636Tetralogy of Fallot2SPECC1L CL E G H233841519ORPHA0815629022614140
HP:0001636HP:0001636Tetralogy of Fallot2SUFU CL E G H51684280200ORPHA04753316466607035
HP:0001636HP:0001636Tetralogy of Fallot2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0001636HP:0001636Tetralogy of Fallot2TBX1 CL E G H68991727ORPHA08255311592602054
HP:0001636HP:0001636Tetralogy of Fallot2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM08255311592602054
HP:0001636HP:0001636Tetralogy of Fallot2TDGF1 CL E G H6997280200ORPHA061411701187395
HP:0001636HP:0001636Tetralogy of Fallot2TGIF1 CL E G H7050280200ORPHA02817011776602630
HP:0001636HP:0001636Tetralogy of Fallot2TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM06412823639614589
HP:0001636HP:0001636Tetralogy of Fallot2UBE2T CL E G H2908984ORPHA071825009610538
HP:0001636HP:0001636Tetralogy of Fallot2VAC14 CL E G H556973472MeningococcemiaORPHA077725507604632
HP:0001636HP:0001636Tetralogy of Fallot2WT1 CL E G H74903097ORPHA018463512796607102
HP:0001636HP:0001636Tetralogy of Fallot2XRCC2 CL E G H751684ORPHA02335812829600375
HP:0001636HP:0001636Tetralogy of Fallot2ZIC2 CL E G H7546280200ORPHA012315412873603073


Genes (129) :ALX1 ALX3 ARHGAP31 ARID1B ARVCF BAZ1B BRAF BRCA1 BRCA2 BRIP1 CACNA1C CCDC22 CDON CHD4 CHD7 CHRM3 CITED2 CLIP2 COL2A1 COMT COX7B DACT1 DDX11 DDX59 DGCR2 DGCR6 DGCR8 DISP1 DLL1 DLL4 DOCK6 EHMT1 ELN EOGT ERCC4 ESS2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF8 FGFR1 FIG4 FN1 FOXC2 FOXF1 FOXH1 GABRD GAS1 GATA4 GATA5 GATA6 GDF1 GJA5 GLI2 GP1BB GTF2I GTF2IRD1 HIBCH HIRA INTU JAG1 JMJD1C KCNAB2 LIMK1 MAD2L2 MKKS NKX2-5 NKX2-6 NODAL NOTCH1 NOTCH2 NR2F2 NXN PAH PALB2 PIGL PIGN PQBP1 PRDM16 PTCH1 RAB23 RAD51 RAD51C RBM10 RBM8A RBPJ RERE RFC2 RFWD3 RNU4ATAC ROR2 RPL11 RPL5 RREB1 SALL1 SALL4 SEC24C SEMA3E SF3B4 SHH SIX3 SKI SLX4 SPECC1L STRA6 SUFU TAB2 TBL2 TBX1 TDGF1 TGIF1 TMEM260 TMEM94 TTC37 UBE2T UFD1 VAC14 WASHC5 WT1 XRCC2 ZFPM2 ZIC2

Diseases (71) :306542 136760 100300 974 135900 567 904 613707 84 601005 7 280200 617159 138 214800 2970 3303 93315 300887 857 613398 2919 192430 96147 3472 216340 153400 210122 1606 251071 615542 187500 617912 2255 600001 208530 613854 250620 617926 617925 118450 2473 108900 610205 615779 1507 2209 3474 280000 2059 309500 201000 311900 3320 274000 210710 612562 612561 107480 959 154400 1519 601186 614980 1727 188400 617478 618316 222470 220210 3097
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.