Ventricular septal defect
Symptom Information:
Symptom ID: | HPO:0001629 | |||||||||||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the cardiovascular system(HPO:0001626) Abnormal heart morphology(HPO:0001627) obsolete Malformation of the heart and great vessels(HPO:0002564) Abnormality of the cardiac septa(HPO:0001671) Abnormality of the ventricular septum(HPO:0010438) Ventricular septal defect(HPO:0001629) Abnormality of cardiac ventricle(HPO:0001713) Abnormality of the ventricular septum(HPO:0010438) Ventricular septal defect(HPO:0001629) MedDRA: Cardiac disorders(MedDRA:10007541) Abnormality of the myocardium(HPO:0001637) Myocardial disorders NEC(MedDRA:10028590) Ventricular septal defect(HPO:0001629) |
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Database Frequency: | 316 / 7739 | |||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
15q14 microdeletion syndrome | (Orphanet:261190) |
16p13.11 microdeletion syndrome | (Orphanet:261236) |
16p13.11 microduplication syndrome | (Orphanet:261243) |
16p13.3 microduplication syndrome | (Orphanet:96078) |
16q24.3 microdeletion syndrome | (Orphanet:261250) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
3C syndrome | (Orphanet:7) |
3q29 microduplication | (Orphanet:251038) |
6p22 microdeletion syndrome | (Orphanet:251046) |
8p23.1 microduplication syndrome | (Orphanet:251076) |
8q12 microduplication syndrome | (Orphanet:228399) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
ADAMS-OLIVER SYNDROME 4 | (OMIM:615297) |
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY | (OMIM:614262) |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
ATRIAL SEPTAL DEFECT 2 | (OMIM:607941) |
Aase-Smith syndrome | (Orphanet:916) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acroosteolysis, dominant type | (Orphanet:955) |
Adams-Oliver syndrome | (Orphanet:974) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Alagille syndrome | (Orphanet:52) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
Aldosterone-producing adenoma with seizures and neurological abnormalities | (Orphanet:369929) |
Aminopterin/methotrexate embryofetopathy | (Orphanet:1908) |
Ankyloblepharon - ectodermal defects - cleft lip/palate | (Orphanet:1071) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Apert syndrome | (Orphanet:87) |
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis | (Orphanet:1112) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Atrial septal defect - atrioventricular conduction defects syndrome | (Orphanet:1479) |
Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant coarctation of aorta | (Orphanet:1455) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY | (OMIM:601357) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | (Orphanet:231130) |
Beckwith-Wiedemann syndrome due to CDKN1C mutation | (Orphanet:231120) |
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | (Orphanet:231117) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, SBBYS type | (Orphanet:3047) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Brachydactyly type B | (Orphanet:93383) |
Braddock syndrome | (Orphanet:52047) |
Brain malformation - congenital heart disease - postaxial polydactyly | (Orphanet:75389) |
C syndrome | (Orphanet:1308) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CATEL-MANZKE SYNDROME | (OMIM:616145) |
CHARGE syndrome | (Orphanet:138) |
CHILD syndrome | (Orphanet:139) |
CHST3-related skeletal dysplasia | (Orphanet:263463) |
CODAS syndrome | (Orphanet:1458) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 | (OMIM:615779) |
CRANIOACROFACIAL SYNDROME | (OMIM:122850) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
Cantrell pentalogy | (Orphanet:1335) |
Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cardiomyopathy, dilated, 1R | (OMIM:613424) |
Cardiomyopathy, familial restrictive, 1 | (OMIM:115210) |
Cardiomyopathy, hypertrophic, 25 | (OMIM:607487) |
Carpenter syndrome | (Orphanet:65759) |
Cataract-congenital heart disease-neural tube defect syndrome | (Orphanet:314993) |
Catel-Manzke syndrome | (Orphanet:1388) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Char syndrome | (Orphanet:46627) |
Choanal atresia - deafness - cardiac defects - dysmorphism | (Orphanet:1200) |
Cholestasis - pigmentary retinopathy - cleft palate | (Orphanet:1415) |
Cloverleaf skull - multiple congenital anomalies | (Orphanet:93267) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Congenital alveolar capillary dysplasia | (Orphanet:210122) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Congenital heart block | (Orphanet:60041) |
Congenital osteogenesis imperfecta - microcephaly - cataracts | (Orphanet:2772) |
Congenital rubella syndrome | (Orphanet:290) |
Congenital unilateral hypoplasia of depressor anguli oris | (Orphanet:1166) |
Cooper-Jabs syndrome | (Orphanet:1488) |
Cornelia de Lange syndrome | (Orphanet:199) |
Costello syndrome | (Orphanet:3071) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Criss-cross heart | (Orphanet:1461) |
Cutis laxa | (Orphanet:209) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DIAMOND-BLACKFAN ANEMIA 10 | (OMIM:613309) |
DIAMOND-BLACKFAN ANEMIA 12 | (OMIM:615550) |
DIAMOND-BLACKFAN ANEMIA 5 | (OMIM:612528) |
DIGEORGE SYNDROME | (OMIM:188400) |
DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERALVASCULATURE | (OMIM:126320) |
Deafness - onychodystrophy | (Orphanet:3231) |
Desbuquois syndrome | (Orphanet:1425) |
Diabetic embryopathy | (Orphanet:1926) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal monosomy 19p13.3 | (Orphanet:96129) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
Dysmorphism - multiple structural anomalies | (Orphanet:1780) |
Dysosteosclerosis | (Orphanet:1782) |
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA | (OMIM:601348) |
Ectrodactyly - spina bifida - cardiopathy | (Orphanet:1894) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ellis Van Creveld syndrome | (Orphanet:289) |
Emanuel syndrome | (Orphanet:96170) |
Eng-Strom syndrome | (Orphanet:1937) |
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS | (OMIM:227255) |
FADD-related immunodeficiency | (Orphanet:306550) |
FANCONI ANEMIA, COMPLEMENTATION GROUP N | (OMIM:610832) |
Faisalabad histiocytosis | (Orphanet:254707) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Femoral-facial syndrome | (Orphanet:1988) |
Fetal minoxidil syndrome | (Orphanet:1918) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fibulo-ulnar hypoplasia - renal anomalies | (Orphanet:2256) |
Filippi syndrome | (Orphanet:3255) |
Focal dermal hypoplasia | (Orphanet:2092) |
Fryns syndrome | (Orphanet:2059) |
Genito-palato-cardiac syndrome | (Orphanet:2075) |
Genitopatellar syndrome | (Orphanet:85201) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Goldenhar syndrome | (Orphanet:374) |
Gonadal dysgenesis, XY type - associated anomalies | (Orphanet:1770) |
Grange syndrome | (Orphanet:79094) |
Grix-Blankenship-Peterson syndrome | (Orphanet:2099) |
H syndrome | (Orphanet:168569) |
HETEROTAXY, VISCERAL, 1, X-LINKED | (OMIM:306955) |
HETEROTAXY, VISCERAL, 4, AUTOSOMAL | (OMIM:613751) |
HETEROTAXY, VISCERAL, 5, AUTOSOMAL | (OMIM:270100) |
HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIGTOES, AND VENTRICULAR SEPTAL DEFECT | (OMIM:235750) |
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION | (OMIM:613870) |
HYDROLETHALUS SYNDROME 1 | (OMIM:236680) |
Hand-foot-genital syndrome | (Orphanet:2438) |
Heart defect - round face - congenital developmental delay | (Orphanet:1355) |
Heart defects - limb shortening | (Orphanet:1354) |
Hennekam syndrome | (Orphanet:2136) |
Hereditary orotic aciduria | (Orphanet:30) |
Heterotaxia | (Orphanet:450) |
His bundle tachycardia | (Orphanet:3283) |
Histiocytoid cardiomyopathy | (Orphanet:137675) |
Holoprosencephaly | (Orphanet:2162) |
Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
Holt-Oram syndrome | (Orphanet:392) |
Hydrolethalus | (Orphanet:2189) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypoparathyroidism - deafness - renal disease | (Orphanet:2237) |
Hypoplastic left heart syndrome 2 | (OMIM:614435) |
Idiopathic neonatal atrial flutter | (Orphanet:45452) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Isolated Klippel-Feil syndrome | (Orphanet:2345) |
Isotretinoin-like syndrome | (Orphanet:2306) |
Ivemark syndrome | (Orphanet:97548) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome 18 | (OMIM:614815) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE | (OMIM:214300) |
Kabuki syndrome | (Orphanet:2322) |
Kallmann syndrome - heart disease | (Orphanet:2326) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Keutel syndrome | (Orphanet:85202) |
Kleefstra syndrome | (Orphanet:261494) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LAMBOTTE SYNDROME | (OMIM:245552) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Lambert syndrome | (Orphanet:1296) |
Lateral meningocele syndrome | (Orphanet:2789) |
Left ventricular noncompaction | (Orphanet:54260) |
Left ventricular noncompaction 1 | (OMIM:604169) |
Leigh syndrome | (Orphanet:506) |
Lethal chondrodysplasia, Moerman type | (Orphanet:1420) |
Lethal congenital contracture syndrome type 2 | (Orphanet:137776) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
Lymphedema - atrial septal defects - facial changes | (Orphanet:86915) |
Lymphedema - distichiasis | (Orphanet:33001) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION | (OMIM:249670) |
MGAT2-CDG | (Orphanet:79329) |
MICROPHTHALMIA, SYNDROMIC 12 | (OMIM:615524) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | (OMIM:616277) |
MMEP syndrome | (Orphanet:3434) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MUNGAN SYNDROME | (OMIM:611376) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marden-Walker syndrome | (Orphanet:2461) |
Matthew-Wood syndrome | (Orphanet:2470) |
McDonough syndrome | (Orphanet:2471) |
McKusick-Kaufman syndrome | (Orphanet:2473) |
Meacham syndrome | (Orphanet:3097) |
Meckel syndrome, type 2 | (OMIM:603194) |
Meckel syndrome, type 4 | (OMIM:611134) |
Medeira-Dennis-Donnai syndrome | (Orphanet:2476) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Methimazole embryofetopathy | (Orphanet:1923) |
Microcephaly - cardiac defect - lung malsegmentation | (Orphanet:2516) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - intellectual deficit - phalangeal and neurological anomalies | (Orphanet:137658) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cardiomyopathy syndrome | (Orphanet:2515) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 9p | (Orphanet:261112) |
Mosaic trisomy 9 | (Orphanet:99776) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multifocal atrial tachycardia | (Orphanet:3282) |
Multiple intestinal atresia | (Orphanet:2300) |
Mycophenolate mofetil embryopathy | (Orphanet:268249) |
NOONAN SYNDROME 1 | (OMIM:163950) |
NOONAN SYNDROME 3 | (OMIM:609942) |
NOONAN SYNDROME 4 | (OMIM:610733) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Nager syndrome | (Orphanet:245) |
Nephronophthisis 2 | (OMIM:602088) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neuroectodermal syndrome, Johnson type | (Orphanet:2316) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Okihiro syndrome | (Orphanet:93293) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) | (OMIM:614876) |
PHACE syndrome | (Orphanet:42775) |
PHAVER syndrome | (Orphanet:2876) |
Pallister-Hall syndrome | (Orphanet:672) |
Pancreatic hypoplasia - diabetes - congenital heart disease | (Orphanet:2255) |
Peters-plus syndrome | (Orphanet:709) |
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome | (Orphanet:254723) |
Polysyndactyly - cardiac malformation | (Orphanet:2934) |
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome | (Orphanet:276432) |
Proximal spinal muscular atrophy | (Orphanet:70) |
Proximal spinal muscular atrophy type 1 | (Orphanet:83330) |
Prune belly syndrome | (Orphanet:2970) |
Pulmonary atresia with ventricular septal defect | (Orphanet:1207) |
RIENHOFF SYNDROME | (OMIM:615582) |
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL | (OMIM:610338) |
ROBERTS SYNDROME | (OMIM:268300) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renpenning syndrome | (Orphanet:3242) |
Roberts syndrome | (Orphanet:3103) |
Rosaï-Dorfman disease | (Orphanet:158014) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS | (OMIM:609654) |
SOTOS SYNDROME 1 | (OMIM:117550) |
Senior-Loken syndrome 8 | (OMIM:616307) |
Severe dermatitis-multiple allergies-metabolic wasting syndrome | (Orphanet:369992) |
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia | (Orphanet:94066) |
Short rib-polydactyly syndrome, Beemer-Langer type | (Orphanet:93268) |
Short rib-polydactyly syndrome, Majewski type | (Orphanet:93269) |
Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
Short-rib thoracic dysplasia 10 with or without polydactyly | (OMIM:615630) |
Short-rib thoracic dysplasia 8 with or without polydactyly | (OMIM:615503) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Sotos syndrome | (Orphanet:821) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Syndromic diarrhea | (Orphanet:84064) |
TRICHOHEPATOENTERIC SYNDROME 1 | (OMIM:222470) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
Tetrasomy 12p | (Orphanet:884) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Timothy syndrome | (Orphanet:65283) |
Townes-Brocks syndrome | (Orphanet:857) |
Transketolase deficiency | (ORPHA:488618) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
Trisomy 13 | (Orphanet:3378) |
Trisomy 18 | (Orphanet:3380) |
Trisomy 1q | (Orphanet:261344) |
Ulnar-mammary syndrome | (Orphanet:3138) |
Umbilical cord ulceration - intestinal atresia | (Orphanet:3405) |
VACTERL/VATER association | (Orphanet:887) |
VELOCARDIOFACIAL SYNDROME | (OMIM:192430) |
VENTRICULAR SEPTAL DEFECT 1 | (OMIM:614429) |
VENTRICULAR SEPTAL DEFECT 3 | (OMIM:614432) |
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE | (OMIM:219730) |
Ventricular septal defect | (Orphanet:1480) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Williams syndrome | (Orphanet:904) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome 1 | (OMIM:222300) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
XK aprosencephaly | (Orphanet:3469) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |