Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCND2 CL E G H | 894 | 83473 | | | | ORPHA | 1 | | 110 | 1583 | 123833 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CCND2 CL E G H | 894 | 83473 | | | | ORPHA | 1 | | 117 | 1583 | 123833 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 56 | 16892 | 606037 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 62 | 16892 | 606037 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CDC45 CL E G H | 8318 | 617063 | Meier-gorlin syndrome 7 | 617063 | C4310738 | OMIM | 1 | | 500 | 1739 | 603465 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CDC45 CL E G H | 8318 | 617063 | Meier-gorlin syndrome 7 | 617063 | C4310738 | OMIM | 1 | | 542 | 1739 | 603465 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 191 | 1733 | 603309 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 210 | 1733 | 603309 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 1535 | 29021 | 610142 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 1902 | 29021 | 610142 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CEP57 CL E G H | 9702 | 614114 | Mosaic variegated aneuploidy syndrome 2 | 614114 | C3279843 | OMIM | 1 | | 212 | 30794 | 607951 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CEP57 CL E G H | 9702 | 614114 | Mosaic variegated aneuploidy syndrome 2 | 614114 | C3279843 | OMIM | 1 | | 275 | 30794 | 607951 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1752 | 20626 | 608892 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1980 | 20626 | 608892 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 285 | 1971 | 603799 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 333 | 1971 | 603799 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 78 | 26877 | 616174 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 94 | 26877 | 616174 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 579 | 2228 | 116790 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 587 | 2228 | 116790 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 216 | 2263 | 603646 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 233 | 2263 | 603646 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 171 | 2291 | 300885 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 175 | 2291 | 300885 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CTU2 CL E G H | 348180 | 618142 | MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | 618142 | | OMIM | 1 | | 128 | 28005 | 617057 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CTU2 CL E G H | 348180 | 618142 | MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | 618142 | | OMIM | 1 | | 142 | 28005 | 617057 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 135 | 10664 | 617170 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 196 | 10664 | 617170 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 123 | 2736 | 601150 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 126 | 2736 | 601150 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 411 | 2845 | 600594 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 417 | 2845 | 600594 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 338 | 2846 | 601279 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 341 | 2846 | 601279 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 402 | 2847 | 609030 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 405 | 2847 | 609030 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 511 | 2860 | 602858 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 546 | 2860 | 602858 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 511 | 2860 | 602858 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 546 | 2860 | 602858 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DLL4 CL E G H | 54567 | 616589 | Adams-Oliver syndrome 6 | 616589 | C4225271 | OMIM | 1 | | 75 | 2910 | 605185 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DLL4 CL E G H | 54567 | 616589 | Adams-Oliver syndrome 6 | 616589 | C4225271 | OMIM | 1 | | 109 | 2910 | 605185 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DPH1 CL E G H | 1801 | 616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | 616901 | C4310801 | OMIM | 1 | | 110 | 3003 | 603527 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DPH1 CL E G H | 1801 | 616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | 616901 | C4310801 | OMIM | 1 | | 111 | 3003 | 603527 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DTNA CL E G H | 1837 | 604169 | Left ventricular noncompaction 1 | 604169 | C1858725 | OMIM | 1 | | 378 | 3057 | 601239 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DTNA CL E G H | 1837 | 604169 | Left ventricular noncompaction 1 | 604169 | C1858725 | OMIM | 1 | | 428 | 3057 | 601239 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DVL3 CL E G H | 1857 | 616894 | Robinow syndrome, autosomal dominant 3 | 616894 | C4225164 | OMIM | 1 | | 112 | 3087 | 601368 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DVL3 CL E G H | 1857 | 616894 | Robinow syndrome, autosomal dominant 3 | 616894 | C4225164 | OMIM | 1 | | 141 | 3087 | 601368 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DYNC2LI1 CL E G H | 51626 | 289 | | | | ORPHA | 1 | | 262 | 24595 | 617083 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | DYNC2LI1 CL E G H | 51626 | 289 | | | | ORPHA | 1 | | 300 | 24595 | 617083 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 51 | 3146 | 600423 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 52 | 3146 | 600423 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 241 | 3151 | 602292 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 301 | 3151 | 602292 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 342 | 27230 | 609353 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 376 | 27230 | 609353 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 402 | 16817 | 601755 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 407 | 16817 | 601755 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EVC CL E G H | 2121 | 289 | | | | ORPHA | 1 | | 1014 | 3497 | 604831 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EVC CL E G H | 2121 | 289 | | | | ORPHA | 1 | | 1109 | 3497 | 604831 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EVC2 CL E G H | 132884 | 289 | | | | ORPHA | 1 | | 929 | 19747 | 607261 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EVC2 CL E G H | 132884 | 289 | | | | ORPHA | 1 | | 1047 | 19747 | 607261 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EXT2 CL E G H | 2132 | 616682 | Seizures, scoliosis, and macrocephaly syndrome | 616682 | C4225248 | OMIM | 1 | | 379 | 3513 | 608210 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | EXT2 CL E G H | 2132 | 616682 | Seizures, scoliosis, and macrocephaly syndrome | 616682 | C4225248 | OMIM | 1 | | 466 | 3513 | 608210 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 59 | 3573 | 602457 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 69 | 3573 | 602457 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FANCI CL E G H | 55215 | 609053 | Fanconi anemia, complementation group I | 609053 | C1836861 | OMIM | 1 | | 791 | 25568 | 611360 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FANCI CL E G H | 55215 | 609053 | Fanconi anemia, complementation group I | 609053 | C1836861 | OMIM | 1 | | 1040 | 25568 | 611360 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FBN1 CL E G H | 2200 | 608328 | Weill-Marchesani syndrome 2 | 608328 | C1869115 | OMIM | 1 | | 4968 | 3603 | 134797 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FBN1 CL E G H | 2200 | 608328 | Weill-Marchesani syndrome 2 | 608328 | C1869115 | OMIM | 1 | | 5457 | 3603 | 134797 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FBN2 CL E G H | 2201 | 121050 | Congenital contractural arachnodactyly | 121050 | C0220668 | OMIM | 1 | | 1838 | 3604 | 612570 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FBN2 CL E G H | 2201 | 121050 | Congenital contractural arachnodactyly | 121050 | C0220668 | OMIM | 1 | | 1978 | 3604 | 612570 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 530 | 3688 | 136350 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 597 | 3688 | 136350 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 214 | 3693 | 605830 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 267 | 3693 | 605830 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 1 | | 558 | 16873 | 609390 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 1 | | 649 | 16873 | 609390 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FIG4 CL E G H | 9896 | 216340 | Yunis Varon syndrome | 216340 | C1857663 | OMIM | 1 | | 558 | 16873 | 609390 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FIG4 CL E G H | 9896 | 216340 | Yunis Varon syndrome | 216340 | C1857663 | OMIM | 1 | | 649 | 16873 | 609390 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 1 | | 172 | 3749 | 193067 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 1 | | 174 | 3749 | 193067 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FLNB CL E G H | 2317 | 150250 | Larsen syndrome, dominant type | 150250 | C1835564 | OMIM | 1 | | 786 | 3755 | 603381 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FLNB CL E G H | 2317 | 150250 | Larsen syndrome, dominant type | 150250 | C1835564 | OMIM | 1 | | 988 | 3755 | 603381 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FOXC2 CL E G H | 2303 | 153400 | Distichiasis-lymphedema syndrome | 153400 | C0265345 | OMIM | 1 | | 115 | 3801 | 602402 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FOXC2 CL E G H | 2303 | 153400 | Distichiasis-lymphedema syndrome | 153400 | C0265345 | OMIM | 1 | | 117 | 3801 | 602402 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 210 | 26927 | 613622 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 231 | 26927 | 613622 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 152 | 24678 | 610966 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 177 | 24678 | 610966 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA4 CL E G H | 2626 | 614429 | Ventricular septal defect 1 | 614429 | C3280777 | OMIM | 1 | | 464 | 4173 | 600576 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA4 CL E G H | 2626 | 614429 | Ventricular septal defect 1 | 614429 | C3280777 | OMIM | 1 | | 541 | 4173 | 600576 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA5 CL E G H | 140628 | 617912 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 | 617912 | CN873437 | OMIM | 1 | | 116 | 15802 | 611496 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA5 CL E G H | 140628 | 617912 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 | 617912 | CN873437 | OMIM | 1 | | 196 | 15802 | 611496 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA6 CL E G H | 2627 | 2255 | Familial non-immune hyperthyroidism | | | ORPHA | 1 | | 250 | 4174 | 601656 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA6 CL E G H | 2627 | 2255 | Familial non-immune hyperthyroidism | | | ORPHA | 1 | | 325 | 4174 | 601656 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 250 | 4174 | 601656 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 325 | 4174 | 601656 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GDF1 CL E G H | 2657 | 208530 | Bilateral right-sidedness sequence | 208530 | C0175707 | OMIM | 1 | | 225 | 4214 | 602880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GDF1 CL E G H | 2657 | 208530 | Bilateral right-sidedness sequence | 208530 | C0175707 | OMIM | 1 | | 288 | 4214 | 602880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GDF1 CL E G H | 2657 | 613854 | Transposition of the great arteries, dextro-looped 3 | 613854 | C3151221 | OMIM | 1 | | 225 | 4214 | 602880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GDF1 CL E G H | 2657 | 613854 | Transposition of the great arteries, dextro-looped 3 | 613854 | C3151221 | OMIM | 1 | | 288 | 4214 | 602880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GLI1 CL E G H | 2735 | 289 | | | | ORPHA | 1 | | 40 | 4317 | 165220 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GLI3 CL E G H | 2737 | 146510 | Pallister-Hall syndrome | 146510 | C0265220 | OMIM | 1 | | 666 | 4319 | 165240 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GLI3 CL E G H | 2737 | 146510 | Pallister-Hall syndrome | 146510 | C0265220 | OMIM | 1 | | 681 | 4319 | 165240 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 1 | | 430 | 4440 | 138720 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 1 | | 438 | 4440 | 138720 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 694 | 4451 | 300037 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 783 | 4451 | 300037 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 694 | 4451 | 300037 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 783 | 4451 | 300037 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 212 | 4452 | 300168 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 217 | 4452 | 300168 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 212 | 4452 | 300168 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 217 | 4452 | 300168 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC6 CL E G H | 10082 | 258315 | Omodysplasia 1 | 258315 | C1850318 | OMIM | 1 | | 291 | 4454 | 604404 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | GPC6 CL E G H | 10082 | 258315 | Omodysplasia 1 | 258315 | C1850318 | OMIM | 1 | | 319 | 4454 | 604404 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 214 | 4837 | 300056 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 220 | 4837 | 300056 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 1 | | 437 | 4916 | 600237 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 1 | | 442 | 4916 | 600237 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HRAS CL E G H | 3265 | 3071 | | | | ORPHA | 1 | | 411 | 5173 | 190020 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HRAS CL E G H | 3265 | 3071 | | | | ORPHA | 1 | | 467 | 5173 | 190020 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HYLS1 CL E G H | 219844 | 236680 | Hydrolethalus syndrome 1 | 236680 | C1856016 | OMIM | 1 | | 177 | 26558 | 610693 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HYLS1 CL E G H | 219844 | 236680 | Hydrolethalus syndrome 1 | 236680 | C1856016 | OMIM | 1 | | 199 | 26558 | 610693 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | HYMAI CL E G H | 57061 | 96191 | | | | ORPHA | 1 | | 16 | 5326 | 606546 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | IGBP1 CL E G H | 3476 | 52055 | | | | ORPHA | 1 | | 153 | 5461 | 300139 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | IGBP1 CL E G H | 3476 | 52055 | | | | ORPHA | 1 | | 156 | 5461 | 300139 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 662 | 5465 | 147370 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 680 | 5465 | 147370 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 906 | 6188 | 601920 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1068 | 6188 | 601920 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 1 | | 810 | 12313 | 604503 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 1 | | 899 | 12313 | 604503 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1047 | 24565 | 612452 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1143 | 24565 | 612452 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 400 | 13013 | 601408 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 427 | 13013 | 601408 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 400 | 13013 | 601408 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 427 | 13013 | 601408 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 396 | 17582 | 605880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 487 | 17582 | 605880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 396 | 17582 | 605880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 487 | 17582 | 605880 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 502 | 12637 | 300128 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 562 | 12637 | 300128 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 1828 | 7133 | 602113 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2371 | 7133 | 602113 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KRAS CL E G H | 3845 | 609942 | Noonan syndrome 3 | 609942 | C1860991 | OMIM | 1 | | 331 | 6407 | 190070 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | KRAS CL E G H | 3845 | 609942 | Noonan syndrome 3 | 609942 | C1860991 | OMIM | 1 | | 341 | 6407 | 190070 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 216 | 17095 | 604544 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 242 | 17095 | 604544 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 188 | 6556 | 604407 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 228 | 6556 | 604407 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 73 | 29569 | 610284 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 90 | 29569 | 610284 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LONP1 CL E G H | 9361 | 600373 | CODAS syndrome | 600373 | C1838180 | OMIM | 1 | | 221 | 9479 | 605490 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LONP1 CL E G H | 9361 | 600373 | CODAS syndrome | 600373 | C1838180 | OMIM | 1 | | 357 | 9479 | 605490 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 861 | 6697 | 603506 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1127 | 6697 | 603506 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 306 | 6840 | 176872 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 336 | 6840 | 176872 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MED12 CL E G H | 9968 | 309520 | X-linked mental retardation with marfanoid habitus syndrome | 309520 | C0796022 | OMIM | 1 | | 941 | 11957 | 300188 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MED12 CL E G H | 9968 | 309520 | X-linked mental retardation with marfanoid habitus syndrome | 309520 | C0796022 | OMIM | 1 | | 1034 | 11957 | 300188 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MEIS2 CL E G H | 4212 | 600987 | Cleft palate, cardiac defects, and mental retardation | 600987 | C1832950 | OMIM | 1 | | 71 | 7001 | 601740 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MEIS2 CL E G H | 4212 | 600987 | Cleft palate, cardiac defects, and mental retardation | 600987 | C1832950 | OMIM | 1 | | 80 | 7001 | 601740 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MEOX1 CL E G H | 4222 | 214300 | Klippel-Feil syndrome 2, autosomal recessive | 214300 | C1859209 | OMIM | 1 | | 42 | 7013 | 600147 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MEOX1 CL E G H | 4222 | 214300 | Klippel-Feil syndrome 2, autosomal recessive | 214300 | C1859209 | OMIM | 1 | | 68 | 7013 | 600147 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 115 | 7045 | 602616 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 119 | 7045 | 602616 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MGP CL E G H | 4256 | 85202 | | | | ORPHA | 1 | | 113 | 7060 | 154870 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MGP CL E G H | 4256 | 85202 | | | | ORPHA | 1 | | 121 | 7060 | 154870 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 113 | 7060 | 154870 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 121 | 7060 | 154870 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 132 | 29666 | 611766 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 162 | 29666 | 611766 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MYRF CL E G H | 745 | 618280 | 618280 | 618280 | | OMIM | 1 | | 76 | 1181 | 608329 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | MYRF CL E G H | 745 | 618280 | 618280 | 618280 | | OMIM | 1 | | 80 | 1181 | 608329 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 333 | 18704 | 300013 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 348 | 18704 | 300013 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 336 | 7684 | 603835 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 359 | 7684 | 603835 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 53 | 23987 | 614530 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 64 | 23987 | 614530 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 18 | 17194 | 609435 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 19 | 17194 | 609435 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 71 | 7685 | 602137 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 74 | 7685 | 602137 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 70 | 7687 | 603833 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 73 | 7687 | 603833 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 149 | 7693 | 603834 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 172 | 7693 | 603834 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 102 | 28086 | 609653 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 109 | 28086 | 609653 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 221 | 15899 | 612360 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 228 | 15899 | 612360 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 166 | 28625 | 612392 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 185 | 28625 | 612392 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 177 | 20372 | 300403 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 183 | 20372 | 300403 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 263 | 7707 | 157655 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 301 | 7707 | 157655 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 139 | 7708 | 602985 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 160 | 7708 | 602985 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 77 | 7710 | 603846 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 91 | 7710 | 603846 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 97 | 7711 | 602694 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 101 | 7711 | 602694 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 130 | 7714 | 601825 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 142 | 7714 | 601825 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 82 | 7715 | 602141 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 88 | 7715 | 602141 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 174 | 7716 | 161015 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 200 | 7716 | 161015 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 163 | 7717 | 600532 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 180 | 7717 | 600532 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NEK9 CL E G H | 91754 | 614262 | Arthrogryposis, perthes disease, and upward gaze palsy | 614262 | C3280309 | OMIM | 1 | | 79 | 18591 | 609798 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NEK9 CL E G H | 91754 | 617022 | Lethal congenital contracture syndrome 10 | 617022 | C4310760 | OMIM | 1 | | 79 | 18591 | 609798 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1003 | 28862 | 608667 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1069 | 28862 | 608667 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 170 | 11825 | 600635 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 194 | 11825 | 600635 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NKX2-5 CL E G H | 1482 | 614435 | Hypoplastic left heart syndrome 2 | 614435 | C3280795 | OMIM | 1 | | 291 | 2488 | 600584 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NKX2-5 CL E G H | 1482 | 614435 | Hypoplastic left heart syndrome 2 | 614435 | C3280795 | OMIM | 1 | | 355 | 2488 | 600584 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NKX2-5 CL E G H | 1482 | 614432 | Ventricular septal defect 3 | 614432 | C3280785 | OMIM | 1 | | 291 | 2488 | 600584 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NKX2-5 CL E G H | 1482 | 614432 | Ventricular septal defect 3 | 614432 | C3280785 | OMIM | 1 | | 355 | 2488 | 600584 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NODAL CL E G H | 4838 | 270100 | Visceral heterotaxy 5, autosomal | 270100 | C3495537 | OMIM | 1 | | 118 | 7865 | 601265 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NODAL CL E G H | 4838 | 270100 | Visceral heterotaxy 5, autosomal | 270100 | C3495537 | OMIM | 1 | | 125 | 7865 | 601265 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 188 | 7871 | 300084 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 193 | 7871 | 300084 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NR2F2 CL E G H | 7026 | 615779 | Congenital heart defects, multiple types, 4 | 615779 | C4014310 | OMIM | 1 | | 115 | 7976 | 107773 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NR2F2 CL E G H | 7026 | 615779 | Congenital heart defects, multiple types, 4 | 615779 | C4014310 | OMIM | 1 | | 120 | 7976 | 107773 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1154 | 14234 | 606681 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1240 | 14234 | 606681 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 249 | 12766 | 602952 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 262 | 12766 | 602952 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PALB2 CL E G H | 79728 | 610832 | Fanconi anemia, complementation group N | 610832 | C1835817 | OMIM | 1 | | 3925 | 26144 | 610355 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PALB2 CL E G H | 79728 | 610832 | Fanconi anemia, complementation group N | 610832 | C1835817 | OMIM | 1 | | 4245 | 26144 | 610355 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 530 | 8806 | 300502 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 538 | 8806 | 300502 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 43 | 40038 | 614770 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 51 | 40038 | 614770 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 793 | 8850 | 602136 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 951 | 8850 | 602136 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PEX16 CL E G H | 9409 | 614876 | Peroxisome biogenesis disorder 8A | 614876 | C3553959 | OMIM | 1 | | 203 | 8857 | 603360 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PEX16 CL E G H | 9409 | 614876 | Peroxisome biogenesis disorder 8A | 614876 | C3553959 | OMIM | 1 | | 282 | 8857 | 603360 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PHGDH CL E G H | 26227 | 256520 | Neu-Laxova syndrome 1 | 256520 | CN032230 | OMIM | 1 | | 281 | 8923 | 606879 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PHGDH CL E G H | 26227 | 256520 | Neu-Laxova syndrome 1 | 256520 | CN032230 | OMIM | 1 | | 407 | 8923 | 606879 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIGL CL E G H | 9487 | 280000 | Zunich neuroectodermal syndrome | 280000 | C1848392 | OMIM | 1 | | 110 | 8966 | 605947 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIGL CL E G H | 9487 | 280000 | Zunich neuroectodermal syndrome | 280000 | C1848392 | OMIM | 1 | | 119 | 8966 | 605947 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 544 | 8975 | 171834 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 613 | 8975 | 171834 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIK3R2 CL E G H | 5296 | 83473 | | | | ORPHA | 1 | | 166 | 8980 | 603157 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIK3R2 CL E G H | 5296 | 83473 | | | | ORPHA | 1 | | 188 | 8980 | 603157 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 166 | 8980 | 603157 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 188 | 8980 | 603157 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PKD1L1 CL E G H | 168507 | 617205 | Heterotaxy, visceral, 8, autosomal | 617205 | C4310668 | OMIM | 1 | | 289 | 18053 | 609721 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PKD1L1 CL E G H | 168507 | 617205 | Heterotaxy, visceral, 8, autosomal | 617205 | C4310668 | OMIM | 1 | | 291 | 18053 | 609721 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PLAGL1 CL E G H | 5325 | 96191 | | | | ORPHA | 1 | | 30 | 9046 | 603044 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PPP1CB CL E G H | 5500 | 617506 | Noonan syndrome-like disorder with loose anagen hair 2 | 617506 | C4479577 | OMIM | 1 | | 88 | 9282 | 600590 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PPP1CB CL E G H | 5500 | 617506 | Noonan syndrome-like disorder with loose anagen hair 2 | 617506 | C4479577 | OMIM | 1 | | 97 | 9282 | 600590 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PQBP1 CL E G H | 10084 | 309500 | Renpenning syndrome 1 | 309500 | C0796135 | OMIM | 1 | | 260 | 9330 | 300463 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PQBP1 CL E G H | 10084 | 309500 | Renpenning syndrome 1 | 309500 | C0796135 | OMIM | 1 | | 265 | 9330 | 300463 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 565 | 9644 | 176876 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 629 | 9644 | 176876 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RAB23 CL E G H | 51715 | 201000 | Carpenter syndrome 1 | 201000 | C1275078 | OMIM | 1 | | 152 | 14263 | 606144 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RAB23 CL E G H | 51715 | 201000 | Carpenter syndrome 1 | 201000 | C1275078 | OMIM | 1 | | 158 | 14263 | 606144 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RERE CL E G H | 473 | 616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 616975 | C4310772 | OMIM | 1 | | 229 | 9965 | 605226 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RERE CL E G H | 473 | 616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 616975 | C4310772 | OMIM | 1 | | 257 | 9965 | 605226 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 137 | 10023 | 609591 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 160 | 10023 | 609591 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ROR2 CL E G H | 4920 | 113000 | Type B brachydactyly | 113000 | C1862112 | OMIM | 1 | | 355 | 10257 | 602337 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ROR2 CL E G H | 4920 | 113000 | Type B brachydactyly | 113000 | C1862112 | OMIM | 1 | | 424 | 10257 | 602337 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 82 | 10301 | 604175 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 89 | 10301 | 604175 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL15 CL E G H | 6138 | 615550 | Diamond-Blackfan anemia 12 | 615550 | C3809888 | OMIM | 1 | | 54 | 10306 | 604174 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL15 CL E G H | 6138 | 615550 | Diamond-Blackfan anemia 12 | 615550 | C3809888 | OMIM | 1 | | 71 | 10306 | 604174 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL35A CL E G H | 6165 | 612528 | Diamond-Blackfan anemia 5 | 612528 | C2675859 | OMIM | 1 | | 101 | 10345 | 180468 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL35A CL E G H | 6165 | 612528 | Diamond-Blackfan anemia 5 | 612528 | C2675859 | OMIM | 1 | | 112 | 10345 | 180468 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL5 CL E G H | 6125 | 612561 | Aase syndrome | 612561 | C0265265 | OMIM | 1 | | 137 | 10360 | 603634 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPL5 CL E G H | 6125 | 612561 | Aase syndrome | 612561 | C0265265 | OMIM | 1 | | 164 | 10360 | 603634 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 111 | 10402 | 603474 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 123 | 10402 | 603474 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 1 | | 172 | 10449 | 602209 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 1 | | 174 | 10449 | 602209 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RSPO2 CL E G H | 340419 | 618021 | TETRAAMELIA SYNDROME 2 | 618021 | CN248528 | OMIM | 1 | | 48 | 28583 | 610575 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | RSPO2 CL E G H | 340419 | 618021 | TETRAAMELIA SYNDROME 2 | 618021 | CN248528 | OMIM | 1 | | 49 | 28583 | 610575 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SALL4 CL E G H | 57167 | 607323 | Duane-radial ray syndrome | 607323 | C1623209 | OMIM | 1 | | 178 | 15924 | 607343 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SALL4 CL E G H | 57167 | 607323 | Duane-radial ray syndrome | 607323 | C1623209 | OMIM | 1 | | 198 | 15924 | 607343 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 1 | | 25 | 10705 | 607185 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 340 | 10727 | 608166 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 398 | 10727 | 608166 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SHOC2 CL E G H | 8036 | 607721 | Noonan syndrome-like disorder with loose anagen hair 1 | 607721 | C1843181 | OMIM | 1 | | 236 | 15454 | 602775 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SHOC2 CL E G H | 8036 | 607721 | Noonan syndrome-like disorder with loose anagen hair 1 | 607721 | C1843181 | OMIM | 1 | | 277 | 15454 | 602775 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SIX6 CL E G H | 4990 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 62 | 10892 | 606326 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SIX6 CL E G H | 4990 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 69 | 10892 | 606326 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 155 | 10938 | 603941 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 168 | 10938 | 603941 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 400 | 16266 | 606152 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 461 | 16266 | 606152 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 247 | 23096 | 612373 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 315 | 23096 | 612373 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 33 | 25763 | 613176 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 34 | 25763 | 613176 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SMN1 CL E G H | 6606 | 253300 | Werdnig-Hoffmann disease | 253300 | C0043116 | OMIM | 1 | | 201 | 11117 | 600354 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SMN1 CL E G H | 6606 | 253300 | Werdnig-Hoffmann disease | 253300 | C0043116 | OMIM | 1 | | 203 | 11117 | 600354 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SNRPB CL E G H | 6628 | 117650 | Cerebro-costo-mandibular syndrome | 117650 | C0265342 | OMIM | 1 | | 55 | 11153 | 182282 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SNRPB CL E G H | 6628 | 117650 | Cerebro-costo-mandibular syndrome | 117650 | C0265342 | OMIM | 1 | | 68 | 11153 | 182282 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SOS1 CL E G H | 6654 | 610733 | Noonan syndrome 4 | 610733 | C1853120 | OMIM | 1 | | 847 | 11187 | 182530 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SOS1 CL E G H | 6654 | 610733 | Noonan syndrome 4 | 610733 | C1853120 | OMIM | 1 | | 977 | 11187 | 182530 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SOX2 CL E G H | 6657 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 155 | 11195 | 184429 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SOX2 CL E G H | 6657 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 160 | 11195 | 184429 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SPECC1L CL E G H | 23384 | 145420 | Brachycephalofrontonasal dysplasia | 145420 | C0796179 | OMIM | 1 | | 187 | 29022 | 614140 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SPECC1L CL E G H | 23384 | 145420 | Brachycephalofrontonasal dysplasia | 145420 | C0796179 | OMIM | 1 | | 205 | 29022 | 614140 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SPECC1L CL E G H | 23384 | 145410 | Opitz G/BBB syndrome | 145410 | C1801950 | OMIM | 1 | | 187 | 29022 | 614140 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SPECC1L CL E G H | 23384 | 145410 | Opitz G/BBB syndrome | 145410 | C1801950 | OMIM | 1 | | 205 | 29022 | 614140 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 77 | 16950 | 606247 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 104 | 16950 | 606247 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | STRA6 CL E G H | 64220 | 601186 | Microphthalmia syndromic 9 | 601186 | C1832661 | OMIM | 1 | | 246 | 30650 | 610745 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | STRA6 CL E G H | 64220 | 601186 | Microphthalmia syndromic 9 | 601186 | C1832661 | OMIM | 1 | | 250 | 30650 | 610745 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 249 | 11474 | 185620 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 313 | 11474 | 185620 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TAB2 CL E G H | 23118 | 614980 | Congenital heart defects, multiple types, 2 | 614980 | C3554279 | OMIM | 1 | | 101 | 17075 | 605101 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TAB2 CL E G H | 23118 | 614980 | Congenital heart defects, multiple types, 2 | 614980 | C3554279 | OMIM | 1 | | 138 | 17075 | 605101 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 70 | 24316 | 612958 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 79 | 24316 | 612958 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 96 | 11559 | 602063 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 116 | 11559 | 602063 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 156 | 26887 | 612758 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 190 | 26887 | 612758 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 1 | | 721 | 11592 | 602054 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 1 | | 804 | 11592 | 602054 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX1 CL E G H | 6899 | 188400 | DiGeorge sequence | 188400 | C0012236 | OMIM | 1 | | 721 | 11592 | 602054 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX1 CL E G H | 6899 | 188400 | DiGeorge sequence | 188400 | C0012236 | OMIM | 1 | | 804 | 11592 | 602054 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX1 CL E G H | 6899 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 721 | 11592 | 602054 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX1 CL E G H | 6899 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 804 | 11592 | 602054 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX3 CL E G H | 6926 | 181450 | Ulnar-mammary syndrome | 181450 | C1866994 | OMIM | 1 | | 201 | 11602 | 601621 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX3 CL E G H | 6926 | 181450 | Ulnar-mammary syndrome | 181450 | C1866994 | OMIM | 1 | | 221 | 11602 | 601621 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX5 CL E G H | 6910 | 392 | Weinstein Kliman Scully syndrome | | | ORPHA | 1 | | 375 | 11604 | 601620 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TBX5 CL E G H | 6910 | 392 | Weinstein Kliman Scully syndrome | | | ORPHA | 1 | | 403 | 11604 | 601620 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TCTN3 CL E G H | 26123 | 614815 | Joubert syndrome 18 | 614815 | C3553758 | OMIM | 1 | | 148 | 24519 | 613847 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TCTN3 CL E G H | 26123 | 614815 | Joubert syndrome 18 | 614815 | C3553758 | OMIM | 1 | | 256 | 24519 | 613847 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TGDS CL E G H | 23483 | 616145 | Catel Manzke syndrome | 616145 | C1844887 | OMIM | 1 | | 108 | 20324 | 616146 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TGDS CL E G H | 23483 | 616145 | Catel Manzke syndrome | 616145 | C1844887 | OMIM | 1 | | 114 | 20324 | 616146 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TGDS CL E G H | 23483 | 1388 | Cleft palate colobomata radial synostosis deafness | | | ORPHA | 1 | | 108 | 20324 | 616146 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TGDS CL E G H | 23483 | 1388 | Cleft palate colobomata radial synostosis deafness | | | ORPHA | 1 | | 114 | 20324 | 616146 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 1 | | 40 | 11834 | 606781 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 1 | | 46 | 11834 | 606781 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TMEM260 CL E G H | 54916 | 617478 | Structural heart defects and renal anomalies syndrome | 617478 | C4479549 | OMIM | 1 | | 53 | 20185 | 617449 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TMEM260 CL E G H | 54916 | 617478 | Structural heart defects and renal anomalies syndrome | 617478 | C4479549 | OMIM | 1 | | 58 | 20185 | 617449 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TMEM94 CL E G H | 9772 | 618316 | 618316 | 618316 | | OMIM | 1 | | 46 | 28983 | 618163 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TMEM94 CL E G H | 9772 | 618316 | 618316 | 618316 | | OMIM | 1 | | 53 | 28983 | 618163 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TRAIP CL E G H | 10293 | 616777 | Seckel syndrome 9 | 616777 | C4225212 | OMIM | 1 | | 46 | 30764 | 605958 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TRAIP CL E G H | 10293 | 616777 | Seckel syndrome 9 | 616777 | C4225212 | OMIM | 1 | | 47 | 30764 | 605958 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TXNL4A CL E G H | 10907 | 608572 | Burn-McKeown syndrome | 608572 | C1837822 | OMIM | 1 | | 191 | 30551 | 611595 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | TXNL4A CL E G H | 10907 | 608572 | Burn-McKeown syndrome | 608572 | C1837822 | OMIM | 1 | | 192 | 30551 | 611595 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | UBE3B CL E G H | 89910 | 244450 | Kaufman oculocerebrofacial syndrome | 244450 | C1855663 | OMIM | 1 | | 69 | 13478 | 608047 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | UBE3B CL E G H | 89910 | 244450 | Kaufman oculocerebrofacial syndrome | 244450 | C1855663 | OMIM | 1 | | 77 | 13478 | 608047 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 148 | 16808 | 605981 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 187 | 16808 | 605981 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 1 | | 402 | 12520 | 601754 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 1 | | 407 | 12520 | 601754 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 1 | | 118 | 25507 | 604632 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 1 | | 162 | 25507 | 604632 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | VIPAS39 CL E G H | 63894 | 613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 | C3150672 | OMIM | 1 | | 160 | 20347 | 613401 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | VIPAS39 CL E G H | 63894 | 613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 | C3150672 | OMIM | 1 | | 161 | 20347 | 613401 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | VPS33B CL E G H | 26276 | 208085 | Arthrogryposis renal dysfunction cholestasis syndrome | 208085 | C1859722 | OMIM | 1 | | 263 | 12712 | 608552 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | VPS33B CL E G H | 26276 | 208085 | Arthrogryposis renal dysfunction cholestasis syndrome | 208085 | C1859722 | OMIM | 1 | | 272 | 12712 | 608552 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 457 | 28984 | 610657 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 493 | 28984 | 610657 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 457 | 28984 | 610657 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 493 | 28984 | 610657 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WDR60 CL E G H | 55112 | 615503 | Short-rib thoracic dysplasia 8 with or without polydactyly | 615503 | C3809691 | OMIM | 1 | | | 21862 | 615462 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | | 12764 | 0 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WNT4 CL E G H | 54361 | 139466 | | | | ORPHA | 1 | | 35 | 12783 | 603490 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WNT4 CL E G H | 54361 | 139466 | | | | ORPHA | 1 | | 41 | 12783 | 603490 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WNT4 CL E G H | 54361 | 611812 | Serkal syndrome | 611812 | C2678492 | OMIM | 1 | | 35 | 12783 | 603490 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | WNT4 CL E G H | 54361 | 611812 | Serkal syndrome | 611812 | C2678492 | OMIM | 1 | | 41 | 12783 | 603490 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | XYLT1 CL E G H | 64131 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 288 | 15516 | 608124 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | XYLT1 CL E G H | 64131 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 369 | 15516 | 608124 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 83 | 15517 | 608125 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 130 | 15517 | 608125 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ZEB2 CL E G H | 9839 | 235730 | Mowat-Wilson syndrome | 235730 | C1856113 | OMIM | 1 | | 790 | 14881 | 605802 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ZEB2 CL E G H | 9839 | 235730 | Mowat-Wilson syndrome | 235730 | C1856113 | OMIM | 1 | | 873 | 14881 | 605802 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ZIC3 CL E G H | 7547 | 306955 | Heterotaxy, visceral, X-linked | 306955 | C1844020 | OMIM | 1 | | 269 | 12874 | 300265 |
HP:0001629 | HP:0001629 | Ventricular septal defect | 0 | ZIC3 CL E G H | 7547 | 306955 | Heterotaxy, visceral, X-linked | 306955 | C1844020 | OMIM | 1 | | 276 | 12874 | 300265 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 147 | 76 | 189980 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ABL1 CL E G H | 25 | 617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 617602 | C4539857 | OMIM | 1 | | 188 | 76 | 189980 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 305 | 174 | 602730 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 174 | 602730 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 241 | 13201 | 608990 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ADAMTS10 CL E G H | 81794 | 277600 | Weill-Marchesani syndrome 1 | 277600 | C1869114 | OMIM | 1 | | 363 | 13201 | 608990 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 228 | 393 | 611223 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 249 | 393 | 611223 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 281 | 17978 | 615291 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 337 | 17978 | 615291 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0011622 | Inlet ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0011623 | Muscular ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0011684 | Non-restrictive ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0011682 | Perimembranous ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0011683 | Restrictive ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001629 | HP:0011681 | Subarterial ventricular septal defect | 1 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001629 | HP:0011621 | Gerbode ventricular septal defect | 1 | |