Human Phenotype Ontology 
Grandparent Node:
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Abnormal cardiac septum morphology (HP:0001671)help
Grandparent Node:
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Abnormal cardiac ventricle morphology (HP:0001713)help
Parent Node:
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Abnormal ventricular septum morphology (HP:0010438)help
..Starting node
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Ventricular septal defect (HP:0001629)help
Term ID: 1629
Name: Ventricular septal defect
Synonym: Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD
Definition: A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Comments:
Reference: HP:0001629
Genes and Diseases:
 
       Child Nodes:
........expandGerbode ventricular septal defect (HP:0011621) help
........expandInlet ventricular septal defect (HP:0011622) help
........expandMuscular ventricular septal defect (HP:0011623) help
................... HP:0011624 Apical muscular ventricular septal defect
................... HP:0011625 Multiple muscular ventricular septal defects
........expandSubarterial ventricular septal defect (HP:0011681) help
........expandPerimembranous ventricular septal defect (HP:0011682) help
........expandRestrictive ventricular septal defect (HP:0011683) help
........expandNon-restrictive ventricular septal defect (HP:0011684) help

 Sister Nodes: 
..expandVentricular septal aneurysm (HP:0030957) help
..expandVentricular septal hypertrophy (HP:0005144) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001629HP:0001629Ventricular septal defect0ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0001629Ventricular septal defect0ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0001629Ventricular septal defect0ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0001629Ventricular septal defect0ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0001629Ventricular septal defect0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0001629Ventricular septal defect0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0001629Ventricular septal defect0AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0001629Ventricular septal defect0AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0001629Ventricular septal defect0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0001629Ventricular septal defect0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0001629Ventricular septal defect0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0001629Ventricular septal defect0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0001629Ventricular septal defect0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0001629Ventricular septal defect0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0001629Ventricular septal defect0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0001629Ventricular septal defect0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0001629Ventricular septal defect0ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0001629Ventricular septal defect0ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0001629Ventricular septal defect0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0001629Ventricular septal defect0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0001629Ventricular septal defect0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0001629Ventricular septal defect0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0001629Ventricular septal defect0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0001629Ventricular septal defect0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0001629Ventricular septal defect0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0001629Ventricular septal defect0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0001629Ventricular septal defect0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0001629Ventricular septal defect0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0001629Ventricular septal defect0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0001629Ventricular septal defect0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0001629Ventricular septal defect0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0001629Ventricular septal defect0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0001629Ventricular septal defect0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0001629Ventricular septal defect0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0001629Ventricular septal defect0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0001629Ventricular septal defect0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0001629Ventricular septal defect0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0001629Ventricular septal defect0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA124228909300859
HP:0001629HP:0001629Ventricular septal defect0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125028909300859
HP:0001629HP:0001629Ventricular septal defect0CCND2 CL E G H89483473ORPHA11101583123833
HP:0001629HP:0001629Ventricular septal defect0CCND2 CL E G H89483473ORPHA11171583123833
HP:0001629HP:0001629Ventricular septal defect0CD96 CL E G H10225211750C syndrome211750C0796095OMIM15616892606037
HP:0001629HP:0001629Ventricular septal defect0CD96 CL E G H10225211750C syndrome211750C0796095OMIM16216892606037
HP:0001629HP:0001629Ventricular septal defect0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15001739603465
HP:0001629HP:0001629Ventricular septal defect0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15421739603465
HP:0001629HP:0001629Ventricular septal defect0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM11911733603309
HP:0001629HP:0001629Ventricular septal defect0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12101733603309
HP:0001629HP:0001629Ventricular septal defect0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1153529021610142
HP:0001629HP:0001629Ventricular septal defect0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1190229021610142
HP:0001629HP:0001629Ventricular septal defect0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM121230794607951
HP:0001629HP:0001629Ventricular septal defect0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM127530794607951
HP:0001629HP:0001629Ventricular septal defect0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0001629HP:0001629Ventricular septal defect0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0001629HP:0001629Ventricular septal defect0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM12851971603799
HP:0001629HP:0001629Ventricular septal defect0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13331971603799
HP:0001629HP:0001629Ventricular septal defect0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM17826877616174
HP:0001629HP:0001629Ventricular septal defect0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM19426877616174
HP:0001629HP:0001629Ventricular septal defect0COMT CL E G H1312567ORPHA15792228116790
HP:0001629HP:0001629Ventricular septal defect0COMT CL E G H1312567ORPHA15872228116790
HP:0001629HP:0001629Ventricular septal defect0COX15 CL E G H1355255241ORPHA12162263603646
HP:0001629HP:0001629Ventricular septal defect0COX15 CL E G H1355255241ORPHA12332263603646
HP:0001629HP:0001629Ventricular septal defect0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11712291300885
HP:0001629HP:0001629Ventricular septal defect0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11752291300885
HP:0001629HP:0001629Ventricular septal defect0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0001629HP:0001629Ventricular septal defect0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0001629HP:0001629Ventricular septal defect0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001629HP:0001629Ventricular septal defect0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001629HP:0001629Ventricular septal defect0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0001629HP:0001629Ventricular septal defect0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0001629HP:0001629Ventricular septal defect0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM112828005617057
HP:0001629HP:0001629Ventricular septal defect0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM114228005617057
HP:0001629HP:0001629Ventricular septal defect0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM113510664617170
HP:0001629HP:0001629Ventricular septal defect0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM119610664617170
HP:0001629HP:0001629Ventricular septal defect0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11232736601150
HP:0001629HP:0001629Ventricular septal defect0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11262736601150
HP:0001629HP:0001629Ventricular septal defect0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0001629HP:0001629Ventricular septal defect0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0001629HP:0001629Ventricular septal defect0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0001629HP:0001629Ventricular septal defect0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0001629HP:0001629Ventricular septal defect0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0001629HP:0001629Ventricular septal defect0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0001629HP:0001629Ventricular septal defect0DHCR7 CL E G H1717818ORPHA15112860602858
HP:0001629HP:0001629Ventricular septal defect0DHCR7 CL E G H1717818ORPHA15462860602858
HP:0001629HP:0001629Ventricular septal defect0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0001629HP:0001629Ventricular septal defect0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0001629HP:0001629Ventricular septal defect0DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM1752910605185
HP:0001629HP:0001629Ventricular septal defect0DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM11092910605185
HP:0001629HP:0001629Ventricular septal defect0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM11103003603527
HP:0001629HP:0001629Ventricular septal defect0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM11113003603527
HP:0001629HP:0001629Ventricular septal defect0DTNA CL E G H1837604169Left ventricular noncompaction 1604169C1858725OMIM13783057601239
HP:0001629HP:0001629Ventricular septal defect0DTNA CL E G H1837604169Left ventricular noncompaction 1604169C1858725OMIM14283057601239
HP:0001629HP:0001629Ventricular septal defect0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM11123087601368
HP:0001629HP:0001629Ventricular septal defect0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM11413087601368
HP:0001629HP:0001629Ventricular septal defect0DYNC2LI1 CL E G H51626289ORPHA126224595617083
HP:0001629HP:0001629Ventricular septal defect0DYNC2LI1 CL E G H51626289ORPHA130024595617083
HP:0001629HP:0001629Ventricular septal defect0ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1513146600423
HP:0001629HP:0001629Ventricular septal defect0ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1523146600423
HP:0001629HP:0001629Ventricular septal defect0ECHS1 CL E G H1892255241ORPHA12413151602292
HP:0001629HP:0001629Ventricular septal defect0ECHS1 CL E G H1892255241ORPHA13013151602292
HP:0001629HP:0001629Ventricular septal defect0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001629HP:0001629Ventricular septal defect0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001629HP:0001629Ventricular septal defect0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM134227230609353
HP:0001629HP:0001629Ventricular septal defect0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM137627230609353
HP:0001629HP:0001629Ventricular septal defect0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0001629HP:0001629Ventricular septal defect0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0001629HP:0001629Ventricular septal defect0EVC CL E G H2121289ORPHA110143497604831
HP:0001629HP:0001629Ventricular septal defect0EVC CL E G H2121289ORPHA111093497604831
HP:0001629HP:0001629Ventricular septal defect0EVC2 CL E G H132884289ORPHA192919747607261
HP:0001629HP:0001629Ventricular septal defect0EVC2 CL E G H132884289ORPHA1104719747607261
HP:0001629HP:0001629Ventricular septal defect0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0001629HP:0001629Ventricular septal defect0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0001629HP:0001629Ventricular septal defect0FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM1593573602457
HP:0001629HP:0001629Ventricular septal defect0FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM1693573602457
HP:0001629HP:0001629Ventricular septal defect0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM179125568611360
HP:0001629HP:0001629Ventricular septal defect0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM1104025568611360
HP:0001629HP:0001629Ventricular septal defect0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM149683603134797
HP:0001629HP:0001629Ventricular septal defect0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM154573603134797
HP:0001629HP:0001629Ventricular septal defect0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM118383604612570
HP:0001629HP:0001629Ventricular septal defect0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM119783604612570
HP:0001629HP:0001629Ventricular septal defect0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM15303688136350
HP:0001629HP:0001629Ventricular septal defect0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM15973688136350
HP:0001629HP:0001629Ventricular septal defect0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM14663689176943
HP:0001629HP:0001629Ventricular septal defect0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15013689176943
HP:0001629HP:0001629Ventricular septal defect0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0001629HP:0001629Ventricular septal defect0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0001629HP:0001629Ventricular septal defect0FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0001629HP:0001629Ventricular septal defect0FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0001629HP:0001629Ventricular septal defect0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0001629HP:0001629Ventricular septal defect0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0001629HP:0001629Ventricular septal defect0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11723749193067
HP:0001629HP:0001629Ventricular septal defect0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11743749193067
HP:0001629HP:0001629Ventricular septal defect0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM17863755603381
HP:0001629HP:0001629Ventricular septal defect0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM19883755603381
HP:0001629HP:0001629Ventricular septal defect0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11153801602402
HP:0001629HP:0001629Ventricular septal defect0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11173801602402
HP:0001629HP:0001629Ventricular septal defect0FOXRED1 CL E G H55572255241ORPHA121026927613622
HP:0001629HP:0001629Ventricular septal defect0FOXRED1 CL E G H55572255241ORPHA123126927613622
HP:0001629HP:0001629Ventricular septal defect0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0001629HP:0001629Ventricular septal defect0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0001629HP:0001629Ventricular septal defect0GATA4 CL E G H2626614429Ventricular septal defect 1614429C3280777OMIM14644173600576
HP:0001629HP:0001629Ventricular septal defect0GATA4 CL E G H2626614429Ventricular septal defect 1614429C3280777OMIM15414173600576
HP:0001629HP:0001629Ventricular septal defect0GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM111615802611496
HP:0001629HP:0001629Ventricular septal defect0GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM119615802611496
HP:0001629HP:0001629Ventricular septal defect0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA12504174601656
HP:0001629HP:0001629Ventricular septal defect0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA13254174601656
HP:0001629HP:0001629Ventricular septal defect0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM12504174601656
HP:0001629HP:0001629Ventricular septal defect0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM13254174601656
HP:0001629HP:0001629Ventricular septal defect0GDF1 CL E G H2657208530Bilateral right-sidedness sequence208530C0175707OMIM12254214602880
HP:0001629HP:0001629Ventricular septal defect0GDF1 CL E G H2657208530Bilateral right-sidedness sequence208530C0175707OMIM12884214602880
HP:0001629HP:0001629Ventricular septal defect0GDF1 CL E G H2657613854Transposition of the great arteries, dextro-looped 3613854C3151221OMIM12254214602880
HP:0001629HP:0001629Ventricular septal defect0GDF1 CL E G H2657613854Transposition of the great arteries, dextro-looped 3613854C3151221OMIM12884214602880
HP:0001629HP:0001629Ventricular septal defect0GLI1 CL E G H2735289ORPHA1404317165220
HP:0001629HP:0001629Ventricular septal defect0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16664319165240
HP:0001629HP:0001629Ventricular septal defect0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16814319165240
HP:0001629HP:0001629Ventricular septal defect0GP1BB CL E G H2812567ORPHA14304440138720
HP:0001629HP:0001629Ventricular septal defect0GP1BB CL E G H2812567ORPHA14384440138720
HP:0001629HP:0001629Ventricular septal defect0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001629HP:0001629Ventricular septal defect0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001629HP:0001629Ventricular septal defect0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001629HP:0001629Ventricular septal defect0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001629HP:0001629Ventricular septal defect0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001629HP:0001629Ventricular septal defect0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001629HP:0001629Ventricular septal defect0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001629HP:0001629Ventricular septal defect0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001629HP:0001629Ventricular septal defect0GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM12914454604404
HP:0001629HP:0001629Ventricular septal defect0GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM13194454604404
HP:0001629HP:0001629Ventricular septal defect0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12144837300056
HP:0001629HP:0001629Ventricular septal defect0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12204837300056
HP:0001629HP:0001629Ventricular septal defect0HIRA CL E G H7290567ORPHA14374916600237
HP:0001629HP:0001629Ventricular septal defect0HIRA CL E G H7290567ORPHA14424916600237
HP:0001629HP:0001629Ventricular septal defect0HRAS CL E G H32653071ORPHA14115173190020
HP:0001629HP:0001629Ventricular septal defect0HRAS CL E G H32653071ORPHA14675173190020
HP:0001629HP:0001629Ventricular septal defect0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0001629HP:0001629Ventricular septal defect0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0001629HP:0001629Ventricular septal defect0HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM117726558610693
HP:0001629HP:0001629Ventricular septal defect0HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM119926558610693
HP:0001629HP:0001629Ventricular septal defect0HYMAI CL E G H5706196191ORPHA1165326606546
HP:0001629HP:0001629Ventricular septal defect0IGBP1 CL E G H347652055ORPHA11535461300139
HP:0001629HP:0001629Ventricular septal defect0IGBP1 CL E G H347652055ORPHA11565461300139
HP:0001629HP:0001629Ventricular septal defect0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16625465147370
HP:0001629HP:0001629Ventricular septal defect0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16805465147370
HP:0001629HP:0001629Ventricular septal defect0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0001629HP:0001629Ventricular septal defect0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0001629HP:0001629Ventricular septal defect0JMJD1C CL E G H221037567ORPHA181012313604503
HP:0001629HP:0001629Ventricular septal defect0JMJD1C CL E G H221037567ORPHA189912313604503
HP:0001629HP:0001629Ventricular septal defect0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0001629HP:0001629Ventricular septal defect0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0001629HP:0001629Ventricular septal defect0KAT6A CL E G H7994457193ORPHA140013013601408
HP:0001629HP:0001629Ventricular septal defect0KAT6A CL E G H7994457193ORPHA142713013601408
HP:0001629HP:0001629Ventricular septal defect0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM140013013601408
HP:0001629HP:0001629Ventricular septal defect0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM142713013601408
HP:0001629HP:0001629Ventricular septal defect0KAT6B CL E G H235223047ORPHA139617582605880
HP:0001629HP:0001629Ventricular septal defect0KAT6B CL E G H235223047ORPHA148717582605880
HP:0001629HP:0001629Ventricular septal defect0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM139617582605880
HP:0001629HP:0001629Ventricular septal defect0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM148717582605880
HP:0001629HP:0001629Ventricular septal defect0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001629HP:0001629Ventricular septal defect0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001629HP:0001629Ventricular septal defect0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001629HP:0001629Ventricular septal defect0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001629HP:0001629Ventricular septal defect0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM13316407190070
HP:0001629HP:0001629Ventricular septal defect0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM13416407190070
HP:0001629HP:0001629Ventricular septal defect0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM121617095604544
HP:0001629HP:0001629Ventricular septal defect0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM124217095604544
HP:0001629HP:0001629Ventricular septal defect0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0001629HP:0001629Ventricular septal defect0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0001629HP:0001629Ventricular septal defect0LIPT1 CL E G H51601255241ORPHA17329569610284
HP:0001629HP:0001629Ventricular septal defect0LIPT1 CL E G H51601255241ORPHA19029569610284
HP:0001629HP:0001629Ventricular septal defect0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM12219479605490
HP:0001629HP:0001629Ventricular septal defect0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM13579479605490
HP:0001629HP:0001629Ventricular septal defect0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0001629HP:0001629Ventricular septal defect0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM111276697603506
HP:0001629HP:0001629Ventricular septal defect0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0001629HP:0001629Ventricular septal defect0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0001629HP:0001629Ventricular septal defect0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0001629HP:0001629Ventricular septal defect0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0001629HP:0001629Ventricular septal defect0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM194111957300188
HP:0001629HP:0001629Ventricular septal defect0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1103411957300188
HP:0001629HP:0001629Ventricular septal defect0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM1717001601740
HP:0001629HP:0001629Ventricular septal defect0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM1807001601740
HP:0001629HP:0001629Ventricular septal defect0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM1427013600147
HP:0001629HP:0001629Ventricular septal defect0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM1687013600147
HP:0001629HP:0001629Ventricular septal defect0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0001629HP:0001629Ventricular septal defect0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0001629HP:0001629Ventricular septal defect0MGP CL E G H425685202ORPHA11137060154870
HP:0001629HP:0001629Ventricular septal defect0MGP CL E G H425685202ORPHA11217060154870
HP:0001629HP:0001629Ventricular septal defect0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11137060154870
HP:0001629HP:0001629Ventricular septal defect0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11217060154870
HP:0001629HP:0001629Ventricular septal defect0MTFMT CL E G H123263255241ORPHA113229666611766
HP:0001629HP:0001629Ventricular septal defect0MTFMT CL E G H123263255241ORPHA116229666611766
HP:0001629HP:0001629Ventricular septal defect0MYRF CL E G H745618280618280618280OMIM1761181608329
HP:0001629HP:0001629Ventricular septal defect0MYRF CL E G H745618280618280618280OMIM1801181608329
HP:0001629HP:0001629Ventricular septal defect0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0001629HP:0001629Ventricular septal defect0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0001629HP:0001629Ventricular septal defect0NDUFA10 CL E G H4705255241ORPHA13367684603835
HP:0001629HP:0001629Ventricular septal defect0NDUFA10 CL E G H4705255241ORPHA13597684603835
HP:0001629HP:0001629Ventricular septal defect0NDUFA12 CL E G H55967255241ORPHA15323987614530
HP:0001629HP:0001629Ventricular septal defect0NDUFA12 CL E G H55967255241ORPHA16423987614530
HP:0001629HP:0001629Ventricular septal defect0NDUFA13 CL E G H51079255241ORPHA11817194609435
HP:0001629HP:0001629Ventricular septal defect0NDUFA13 CL E G H51079255241ORPHA11917194609435
HP:0001629HP:0001629Ventricular septal defect0NDUFA2 CL E G H4695255241ORPHA1717685602137
HP:0001629HP:0001629Ventricular septal defect0NDUFA2 CL E G H4695255241ORPHA1747685602137
HP:0001629HP:0001629Ventricular septal defect0NDUFA4 CL E G H4697255241ORPHA1707687603833
HP:0001629HP:0001629Ventricular septal defect0NDUFA4 CL E G H4697255241ORPHA1737687603833
HP:0001629HP:0001629Ventricular septal defect0NDUFA9 CL E G H4704255241ORPHA11497693603834
HP:0001629HP:0001629Ventricular septal defect0NDUFA9 CL E G H4704255241ORPHA11727693603834
HP:0001629HP:0001629Ventricular septal defect0NDUFAF2 CL E G H91942255241ORPHA110228086609653
HP:0001629HP:0001629Ventricular septal defect0NDUFAF2 CL E G H91942255241ORPHA110928086609653
HP:0001629HP:0001629Ventricular septal defect0NDUFAF5 CL E G H79133255241ORPHA122115899612360
HP:0001629HP:0001629Ventricular septal defect0NDUFAF5 CL E G H79133255241ORPHA122815899612360
HP:0001629HP:0001629Ventricular septal defect0NDUFAF6 CL E G H137682255241ORPHA116628625612392
HP:0001629HP:0001629Ventricular septal defect0NDUFAF6 CL E G H137682255241ORPHA118528625612392
HP:0001629HP:0001629Ventricular septal defect0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM117720372300403
HP:0001629HP:0001629Ventricular septal defect0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM118320372300403
HP:0001629HP:0001629Ventricular septal defect0NDUFS1 CL E G H4719255241ORPHA12637707157655
HP:0001629HP:0001629Ventricular septal defect0NDUFS1 CL E G H4719255241ORPHA13017707157655
HP:0001629HP:0001629Ventricular septal defect0NDUFS2 CL E G H4720255241ORPHA11397708602985
HP:0001629HP:0001629Ventricular septal defect0NDUFS2 CL E G H4720255241ORPHA11607708602985
HP:0001629HP:0001629Ventricular septal defect0NDUFS3 CL E G H4722255241ORPHA1777710603846
HP:0001629HP:0001629Ventricular septal defect0NDUFS3 CL E G H4722255241ORPHA1917710603846
HP:0001629HP:0001629Ventricular septal defect0NDUFS4 CL E G H4724255241ORPHA1977711602694
HP:0001629HP:0001629Ventricular septal defect0NDUFS4 CL E G H4724255241ORPHA11017711602694
HP:0001629HP:0001629Ventricular septal defect0NDUFS7 CL E G H374291255241ORPHA11307714601825
HP:0001629HP:0001629Ventricular septal defect0NDUFS7 CL E G H374291255241ORPHA11427714601825
HP:0001629HP:0001629Ventricular septal defect0NDUFS8 CL E G H4728255241ORPHA1827715602141
HP:0001629HP:0001629Ventricular septal defect0NDUFS8 CL E G H4728255241ORPHA1887715602141
HP:0001629HP:0001629Ventricular septal defect0NDUFV1 CL E G H4723255241ORPHA11747716161015
HP:0001629HP:0001629Ventricular septal defect0NDUFV1 CL E G H4723255241ORPHA12007716161015
HP:0001629HP:0001629Ventricular septal defect0NDUFV2 CL E G H4729255241ORPHA11637717600532
HP:0001629HP:0001629Ventricular septal defect0NDUFV2 CL E G H4729255241ORPHA11807717600532
HP:0001629HP:0001629Ventricular septal defect0NEK9 CL E G H91754614262Arthrogryposis, perthes disease, and upward gaze palsy614262C3280309OMIM17918591609798
HP:0001629HP:0001629Ventricular septal defect0NEK9 CL E G H91754617022Lethal congenital contracture syndrome 10617022C4310760OMIM17918591609798
HP:0001629HP:0001629Ventricular septal defect0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0001629HP:0001629Ventricular septal defect0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0001629HP:0001629Ventricular septal defect0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM117011825600635
HP:0001629HP:0001629Ventricular septal defect0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM119411825600635
HP:0001629HP:0001629Ventricular septal defect0NKX2-5 CL E G H1482614435Hypoplastic left heart syndrome 2614435C3280795OMIM12912488600584
HP:0001629HP:0001629Ventricular septal defect0NKX2-5 CL E G H1482614435Hypoplastic left heart syndrome 2614435C3280795OMIM13552488600584
HP:0001629HP:0001629Ventricular septal defect0NKX2-5 CL E G H1482614432Ventricular septal defect 3614432C3280785OMIM12912488600584
HP:0001629HP:0001629Ventricular septal defect0NKX2-5 CL E G H1482614432Ventricular septal defect 3614432C3280785OMIM13552488600584
HP:0001629HP:0001629Ventricular septal defect0NODAL CL E G H4838270100Visceral heterotaxy 5, autosomal270100C3495537OMIM11187865601265
HP:0001629HP:0001629Ventricular septal defect0NODAL CL E G H4838270100Visceral heterotaxy 5, autosomal270100C3495537OMIM11257865601265
HP:0001629HP:0001629Ventricular septal defect0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11887871300084
HP:0001629HP:0001629Ventricular septal defect0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11937871300084
HP:0001629HP:0001629Ventricular septal defect0NR2F2 CL E G H7026615779Congenital heart defects, multiple types, 4615779C4014310OMIM11157976107773
HP:0001629HP:0001629Ventricular septal defect0NR2F2 CL E G H7026615779Congenital heart defects, multiple types, 4615779C4014310OMIM11207976107773
HP:0001629HP:0001629Ventricular septal defect0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001629HP:0001629Ventricular septal defect0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001629HP:0001629Ventricular septal defect0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM124912766602952
HP:0001629HP:0001629Ventricular septal defect0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM126212766602952
HP:0001629HP:0001629Ventricular septal defect0PALB2 CL E G H79728610832Fanconi anemia, complementation group N610832C1835817OMIM1392526144610355
HP:0001629HP:0001629Ventricular septal defect0PALB2 CL E G H79728610832Fanconi anemia, complementation group N610832C1835817OMIM1424526144610355
HP:0001629HP:0001629Ventricular septal defect0PDHA1 CL E G H5160255241ORPHA15308806300502
HP:0001629HP:0001629Ventricular septal defect0PDHA1 CL E G H5160255241ORPHA15388806300502
HP:0001629HP:0001629Ventricular septal defect0PET100 CL E G H100131801255241ORPHA14340038614770
HP:0001629HP:0001629Ventricular septal defect0PET100 CL E G H100131801255241ORPHA15140038614770
HP:0001629HP:0001629Ventricular septal defect0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM17938850602136
HP:0001629HP:0001629Ventricular septal defect0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM19518850602136
HP:0001629HP:0001629Ventricular septal defect0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM12038857603360
HP:0001629HP:0001629Ventricular septal defect0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM12828857603360
HP:0001629HP:0001629Ventricular septal defect0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM12818923606879
HP:0001629HP:0001629Ventricular septal defect0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM14078923606879
HP:0001629HP:0001629Ventricular septal defect0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11108966605947
HP:0001629HP:0001629Ventricular septal defect0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11198966605947
HP:0001629HP:0001629Ventricular septal defect0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM15448975171834
HP:0001629HP:0001629Ventricular septal defect0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM16138975171834
HP:0001629HP:0001629Ventricular septal defect0PIK3R2 CL E G H529683473ORPHA11668980603157
HP:0001629HP:0001629Ventricular septal defect0PIK3R2 CL E G H529683473ORPHA11888980603157
HP:0001629HP:0001629Ventricular septal defect0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM11668980603157
HP:0001629HP:0001629Ventricular septal defect0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM11888980603157
HP:0001629HP:0001629Ventricular septal defect0PKD1L1 CL E G H168507617205Heterotaxy, visceral, 8, autosomal617205C4310668OMIM128918053609721
HP:0001629HP:0001629Ventricular septal defect0PKD1L1 CL E G H168507617205Heterotaxy, visceral, 8, autosomal617205C4310668OMIM129118053609721
HP:0001629HP:0001629Ventricular septal defect0PLAGL1 CL E G H532596191ORPHA1309046603044
HP:0001629HP:0001629Ventricular septal defect0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1889282600590
HP:0001629HP:0001629Ventricular septal defect0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1979282600590
HP:0001629HP:0001629Ventricular septal defect0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12609330300463
HP:0001629HP:0001629Ventricular septal defect0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12659330300463
HP:0001629HP:0001629Ventricular septal defect0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
HP:0001629HP:0001629Ventricular septal defect0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0001629HP:0001629Ventricular septal defect0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115214263606144
HP:0001629HP:0001629Ventricular septal defect0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115814263606144
HP:0001629HP:0001629Ventricular septal defect0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM12299965605226
HP:0001629HP:0001629Ventricular septal defect0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM12579965605226
HP:0001629HP:0001629Ventricular septal defect0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM113710023609591
HP:0001629HP:0001629Ventricular septal defect0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM116010023609591
HP:0001629HP:0001629Ventricular septal defect0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM135510257602337
HP:0001629HP:0001629Ventricular septal defect0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM142410257602337
HP:0001629HP:0001629Ventricular septal defect0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM18210301604175
HP:0001629HP:0001629Ventricular septal defect0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM18910301604175
HP:0001629HP:0001629Ventricular septal defect0RPL15 CL E G H6138615550Diamond-Blackfan anemia 12615550C3809888OMIM15410306604174
HP:0001629HP:0001629Ventricular septal defect0RPL15 CL E G H6138615550Diamond-Blackfan anemia 12615550C3809888OMIM17110306604174
HP:0001629HP:0001629Ventricular septal defect0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM110110345180468
HP:0001629HP:0001629Ventricular septal defect0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM111210345180468
HP:0001629HP:0001629Ventricular septal defect0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM113710360603634
HP:0001629HP:0001629Ventricular septal defect0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM116410360603634
HP:0001629HP:0001629Ventricular septal defect0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM111110402603474
HP:0001629HP:0001629Ventricular septal defect0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM112310402603474
HP:0001629HP:0001629Ventricular septal defect0RREB1 CL E G H6239567ORPHA117210449602209
HP:0001629HP:0001629Ventricular septal defect0RREB1 CL E G H6239567ORPHA117410449602209
HP:0001629HP:0001629Ventricular septal defect0RSPO2 CL E G H340419618021TETRAAMELIA SYNDROME 2618021CN248528OMIM14828583610575
HP:0001629HP:0001629Ventricular septal defect0RSPO2 CL E G H340419618021TETRAAMELIA SYNDROME 2618021CN248528OMIM14928583610575
HP:0001629HP:0001629Ventricular septal defect0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM117815924607343
HP:0001629HP:0001629Ventricular septal defect0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM119815924607343
HP:0001629HP:0001629Ventricular septal defect0SDHA CL E G H6389255241ORPHA1154510680600857
HP:0001629HP:0001629Ventricular septal defect0SDHA CL E G H6389255241ORPHA1177810680600857
HP:0001629HP:0001629Ventricular septal defect0SEC24C CL E G H9632567ORPHA12510705607185
HP:0001629HP:0001629Ventricular septal defect0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM134010727608166
HP:0001629HP:0001629Ventricular septal defect0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM139810727608166
HP:0001629HP:0001629Ventricular septal defect0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM123615454602775
HP:0001629HP:0001629Ventricular septal defect0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM127715454602775
HP:0001629HP:0001629Ventricular septal defect0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM16210892606326
HP:0001629HP:0001629Ventricular septal defect0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM16910892606326
HP:0001629HP:0001629Ventricular septal defect0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM115510938603941
HP:0001629HP:0001629Ventricular septal defect0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM116810938603941
HP:0001629HP:0001629Ventricular septal defect0SLC19A3 CL E G H80704255241ORPHA140016266606152
HP:0001629HP:0001629Ventricular septal defect0SLC19A3 CL E G H80704255241ORPHA146116266606152
HP:0001629HP:0001629Ventricular septal defect0SLC29A3 CL E G H553151782ORPHA124723096612373
HP:0001629HP:0001629Ventricular septal defect0SLC29A3 CL E G H553151782ORPHA131523096612373
HP:0001629HP:0001629Ventricular septal defect0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM13325763613176
HP:0001629HP:0001629Ventricular septal defect0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM13425763613176
HP:0001629HP:0001629Ventricular septal defect0SMN1 CL E G H6606253300Werdnig-Hoffmann disease253300C0043116OMIM120111117600354
HP:0001629HP:0001629Ventricular septal defect0SMN1 CL E G H6606253300Werdnig-Hoffmann disease253300C0043116OMIM120311117600354
HP:0001629HP:0001629Ventricular septal defect0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM15511153182282
HP:0001629HP:0001629Ventricular septal defect0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM16811153182282
HP:0001629HP:0001629Ventricular septal defect0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM184711187182530
HP:0001629HP:0001629Ventricular septal defect0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM197711187182530
HP:0001629HP:0001629Ventricular septal defect0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM115511195184429
HP:0001629HP:0001629Ventricular septal defect0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM116011195184429
HP:0001629HP:0001629Ventricular septal defect0SPECC1L CL E G H23384145420Brachycephalofrontonasal dysplasia145420C0796179OMIM118729022614140
HP:0001629HP:0001629Ventricular septal defect0SPECC1L CL E G H23384145420Brachycephalofrontonasal dysplasia145420C0796179OMIM120529022614140
HP:0001629HP:0001629Ventricular septal defect0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM118729022614140
HP:0001629HP:0001629Ventricular septal defect0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM120529022614140
HP:0001629HP:0001629Ventricular septal defect0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001629HP:0001629Ventricular septal defect0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001629HP:0001629Ventricular septal defect0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM124630650610745
HP:0001629HP:0001629Ventricular septal defect0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM125030650610745
HP:0001629HP:0001629Ventricular septal defect0SURF1 CL E G H6834255241ORPHA124911474185620
HP:0001629HP:0001629Ventricular septal defect0SURF1 CL E G H6834255241ORPHA131311474185620
HP:0001629HP:0001629Ventricular septal defect0TAB2 CL E G H23118614980Congenital heart defects, multiple types, 2614980C3554279OMIM110117075605101
HP:0001629HP:0001629Ventricular septal defect0TAB2 CL E G H23118614980Congenital heart defects, multiple types, 2614980C3554279OMIM113817075605101
HP:0001629HP:0001629Ventricular septal defect0TACO1 CL E G H51204255241ORPHA17024316612958
HP:0001629HP:0001629Ventricular septal defect0TACO1 CL E G H51204255241ORPHA17924316612958
HP:0001629HP:0001629Ventricular septal defect0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM19611559602063
HP:0001629HP:0001629Ventricular septal defect0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM111611559602063
HP:0001629HP:0001629Ventricular septal defect0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM115626887612758
HP:0001629HP:0001629Ventricular septal defect0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM119026887612758
HP:0001629HP:0001629Ventricular septal defect0TBX1 CL E G H6899567ORPHA172111592602054
HP:0001629HP:0001629Ventricular septal defect0TBX1 CL E G H6899567ORPHA180411592602054
HP:0001629HP:0001629Ventricular septal defect0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0001629HP:0001629Ventricular septal defect0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0001629HP:0001629Ventricular septal defect0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0001629HP:0001629Ventricular septal defect0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0001629HP:0001629Ventricular septal defect0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM120111602601621
HP:0001629HP:0001629Ventricular septal defect0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM122111602601621
HP:0001629HP:0001629Ventricular septal defect0TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA137511604601620
HP:0001629HP:0001629Ventricular septal defect0TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA140311604601620
HP:0001629HP:0001629Ventricular septal defect0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM114824519613847
HP:0001629HP:0001629Ventricular septal defect0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM125624519613847
HP:0001629HP:0001629Ventricular septal defect0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM110820324616146
HP:0001629HP:0001629Ventricular septal defect0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM111420324616146
HP:0001629HP:0001629Ventricular septal defect0TGDS CL E G H234831388Cleft palate colobomata radial synostosis deafnessORPHA110820324616146
HP:0001629HP:0001629Ventricular septal defect0TGDS CL E G H234831388Cleft palate colobomata radial synostosis deafnessORPHA111420324616146
HP:0001629HP:0001629Ventricular septal defect0TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM14011834606781
HP:0001629HP:0001629Ventricular septal defect0TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM14611834606781
HP:0001629HP:0001629Ventricular septal defect0TMEM260 CL E G H54916617478Structural heart defects and renal anomalies syndrome617478C4479549OMIM15320185617449
HP:0001629HP:0001629Ventricular septal defect0TMEM260 CL E G H54916617478Structural heart defects and renal anomalies syndrome617478C4479549OMIM15820185617449
HP:0001629HP:0001629Ventricular septal defect0TMEM94 CL E G H9772618316618316618316OMIM14628983618163
HP:0001629HP:0001629Ventricular septal defect0TMEM94 CL E G H9772618316618316618316OMIM15328983618163
HP:0001629HP:0001629Ventricular septal defect0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0001629HP:0001629Ventricular septal defect0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0001629HP:0001629Ventricular septal defect0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM14630764605958
HP:0001629HP:0001629Ventricular septal defect0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM14730764605958
HP:0001629HP:0001629Ventricular septal defect0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM119130551611595
HP:0001629HP:0001629Ventricular septal defect0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM119230551611595
HP:0001629HP:0001629Ventricular septal defect0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM16913478608047
HP:0001629HP:0001629Ventricular septal defect0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM17713478608047
HP:0001629HP:0001629Ventricular septal defect0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM114816808605981
HP:0001629HP:0001629Ventricular septal defect0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM118716808605981
HP:0001629HP:0001629Ventricular septal defect0UFD1 CL E G H7353567ORPHA140212520601754
HP:0001629HP:0001629Ventricular septal defect0UFD1 CL E G H7353567ORPHA140712520601754
HP:0001629HP:0001629Ventricular septal defect0VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0001629HP:0001629Ventricular septal defect0VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0001629HP:0001629Ventricular septal defect0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001629HP:0001629Ventricular septal defect0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001629HP:0001629Ventricular septal defect0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0001629HP:0001629Ventricular septal defect0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001629HP:0001629Ventricular septal defect0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM145728984610657
HP:0001629HP:0001629Ventricular septal defect0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM149328984610657
HP:0001629HP:0001629Ventricular septal defect0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA145728984610657
HP:0001629HP:0001629Ventricular septal defect0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA149328984610657
HP:0001629HP:0001629Ventricular septal defect0WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM121862615462
HP:0001629HP:0001629Ventricular septal defect0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0001629HP:0001629Ventricular septal defect0WNT4 CL E G H54361139466ORPHA13512783603490
HP:0001629HP:0001629Ventricular septal defect0WNT4 CL E G H54361139466ORPHA14112783603490
HP:0001629HP:0001629Ventricular septal defect0WNT4 CL E G H54361611812Serkal syndrome611812C2678492OMIM13512783603490
HP:0001629HP:0001629Ventricular septal defect0WNT4 CL E G H54361611812Serkal syndrome611812C2678492OMIM14112783603490
HP:0001629HP:0001629Ventricular septal defect0XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA128815516608124
HP:0001629HP:0001629Ventricular septal defect0XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA136915516608124
HP:0001629HP:0001629Ventricular septal defect0XYLT2 CL E G H6413285194ORPHA18315517608125
HP:0001629HP:0001629Ventricular septal defect0XYLT2 CL E G H6413285194ORPHA113015517608125
HP:0001629HP:0001629Ventricular septal defect0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM179014881605802
HP:0001629HP:0001629Ventricular septal defect0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM187314881605802
HP:0001629HP:0001629Ventricular septal defect0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM126912874300265
HP:0001629HP:0001629Ventricular septal defect0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM127612874300265
HP:0001629HP:0011621Gerbode ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0011621Gerbode ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0011622Inlet ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0011622Inlet ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0011623Muscular ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0011623Muscular ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0011682Perimembranous ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0011682Perimembranous ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0011683Restrictive ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0011683Restrictive ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0011681Subarterial ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0001629HP:0011681Subarterial ventricular septal defect1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0001629HP:0011621Gerbode ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0011621Gerbode ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0011622Inlet ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0011622Inlet ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0011623Muscular ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0011623Muscular ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0011682Perimembranous ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0011682Perimembranous ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0011683Restrictive ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0011683Restrictive ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0011681Subarterial ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0001629HP:0011681Subarterial ventricular septal defect1ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0001629HP:0011621Gerbode ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0011621Gerbode ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0011622Inlet ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0011622Inlet ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0011623Muscular ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0011623Muscular ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0011682Perimembranous ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0011682Perimembranous ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0011683Restrictive ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0011683Restrictive ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0011681Subarterial ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0001629HP:0011681Subarterial ventricular septal defect1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0001629HP:0011621Gerbode ventricular septal defect1AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0011621Gerbode ventricular septal defect1AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0011622Inlet ventricular septal defect1AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0011622Inlet ventricular septal defect1AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0011623Muscular ventricular septal defect1AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0011623Muscular ventricular septal defect1AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0011684Non-restrictive ventricular septal defect1AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0011684Non-restrictive ventricular septal defect1AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0011682Perimembranous ventricular septal defect1AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0011682Perimembranous ventricular septal defect1AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0011683Restrictive ventricular septal defect1AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0011683Restrictive ventricular septal defect1AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0011681Subarterial ventricular septal defect1AKT3 CL E G H1000083473ORPHA1228393611223
HP:0001629HP:0011681Subarterial ventricular septal defect1AKT3 CL E G H1000083473ORPHA1249393611223
HP:0001629HP:0011621Gerbode ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0011621Gerbode ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0011622Inlet ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0011622Inlet ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0011623Muscular ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0011623Muscular ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0011684Non-restrictive ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0011684Non-restrictive ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0011682Perimembranous ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0011682Perimembranous ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0011683Restrictive ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0011683Restrictive ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0011681Subarterial ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001629HP:0011681Subarterial ventricular septal defect1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001629HP:0011621Gerbode ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0011621Gerbode ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0011622Inlet ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0011622Inlet ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0011623Muscular ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0011623Muscular ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0011683Restrictive ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0011683Restrictive ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0011681Subarterial ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001629HP:0011681Subarterial ventricular septal defect1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001629HP:0011621Gerbode ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0011621Gerbode ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0011622Inlet ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0011622Inlet ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0011623Muscular ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0011623Muscular ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0011683Restrictive ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0011683Restrictive ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0011681Subarterial ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001629HP:0011681Subarterial ventricular septal defect1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001629HP:0011621Gerbode ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0011621Gerbode ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0011622Inlet ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0011622Inlet ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0011623Muscular ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0011623Muscular ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0011683Restrictive ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0011683Restrictive ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0011681Subarterial ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001629HP:0011681Subarterial ventricular septal defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001629HP:0011621Gerbode ventricular septal defect1ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0011621Gerbode ventricular septal defect1ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0011622Inlet ventricular septal defect1ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0011622Inlet ventricular septal defect1ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0011623Muscular ventricular septal defect1ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0011623Muscular ventricular septal defect1ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0011682Perimembranous ventricular septal defect1ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0011683Restrictive ventricular septal defect1ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0011683Restrictive ventricular septal defect1ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0011681Subarterial ventricular septal defect1ARVCF CL E G H421567ORPHA1544728602269
HP:0001629HP:0011681Subarterial ventricular septal defect1ARVCF CL E G H421567ORPHA1550728602269
HP:0001629HP:0011621Gerbode ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0011621Gerbode ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0011622Inlet ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0011622Inlet ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0011623Muscular ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0011623Muscular ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0011682Perimembranous ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0011682Perimembranous ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0011683Restrictive ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0011683Restrictive ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0011681Subarterial ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001629HP:0011681Subarterial ventricular septal defect1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001629HP:0011621Gerbode ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0011621Gerbode ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0011622Inlet ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0011622Inlet ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0011623Muscular ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0011623Muscular ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0011684Non-restrictive ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0011682Perimembranous ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0011682Perimembranous ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0011683Restrictive ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0011683Restrictive ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0011681Subarterial ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001629HP:0011681Subarterial ventricular septal defect1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001629HP:0011621Gerbode ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0011621Gerbode ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0011622Inlet ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0011622Inlet ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0011623Muscular ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0011623Muscular ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0011684Non-restrictive ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0011684Non-restrictive ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0011682Perimembranous ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0011682Perimembranous ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0011683Restrictive ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0011683Restrictive ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0011681Subarterial ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001629HP:0011681Subarterial ventricular septal defect1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001629HP:0011621Gerbode ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0011621Gerbode ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0011622Inlet ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0011622Inlet ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0011623Muscular ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0011623Muscular ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0011684Non-restrictive ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0011684Non-restrictive ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0011682Perimembranous ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0011682Perimembranous ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0011683Restrictive ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0011683Restrictive ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0011681Subarterial ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001629HP:0011681Subarterial ventricular septal defect1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001629HP:0011621Gerbode ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0011621Gerbode ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0011622Inlet ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0011622Inlet ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0011623Muscular ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0011623Muscular ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0011684Non-restrictive ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0011684Non-restrictive ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0011682Perimembranous ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0011682Perimembranous ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0011683Restrictive ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0011683Restrictive ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0011681Subarterial ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0001629HP:0011681Subarterial ventricular septal defect1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0001629HP:0011621Gerbode ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0011621Gerbode ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0011622Inlet ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0011622Inlet ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0011623Muscular ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0011623Muscular ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0011684Non-restrictive ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0011684Non-restrictive ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0011682Perimembranous ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0011682Perimembranous ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0011683Restrictive ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0011683Restrictive ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0011681Subarterial ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0001629HP:0011681Subarterial ventricular septal defect1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0001629HP:0011621Gerbode ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0011621Gerbode ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0011622Inlet ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0011622Inlet ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0011623Muscular ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0011623Muscular ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0011684Non-restrictive ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0011684Non-restrictive ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0011682Perimembranous ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0011682Perimembranous ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0011683Restrictive ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0011683Restrictive ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0011681Subarterial ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001629HP:0011681Subarterial ventricular septal defect1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001629HP:0011621Gerbode ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0011621Gerbode ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0011622Inlet ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0011622Inlet ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0011623Muscular ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0011623Muscular ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0011684Non-restrictive ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0011684Non-restrictive ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0011682Perimembranous ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0011682Perimembranous ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0011683Restrictive ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0011683Restrictive ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0011681Subarterial ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001629HP:0011681Subarterial ventricular septal defect1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001629HP:0011621Gerbode ventricular septal defect1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0011622Inlet ventricular septal defect1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0011623Muscular ventricular septal defect1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0011684Non-restrictive ventricular septal defect1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0011682Perimembranous ventricular septal defect1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0011683Restrictive ventricular septal defect1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0011681Subarterial ventricular septal defect1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001629HP:0011621Gerbode ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0011621Gerbode ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0011622Inlet ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0011622Inlet ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0011623Muscular ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0011623Muscular ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0011684Non-restrictive ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0011684Non-restrictive ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0011682Perimembranous ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0011682Perimembranous ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0011683Restrictive ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0011683Restrictive ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0011681Subarterial ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001629HP:0011681Subarterial ventricular septal defect1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001629HP:0011621Gerbode ventricular septal defect1