Phenotypes for disease #00152 (CHD (heart disease, congenital (CHD)))

194 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Diagnosis/Initial     
Inheritance     
Age/Examination     
Diagnosis/Definite     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Phenotype details     
Protein     
Owner     
Individual ID     
0000017335 - Unknown - - - - - transposition of the great arteries (TGA), ventricular septal defect (VSD), coarctation of the aorta (CoA) - Marta Sanchez Castro 00019538
0000017597 - Isolated (sporadic) - - - - - Open foramen ovale - Giuseppe Marangi 00019867
0000025052 - Familial, autosomal dominant - - - - - secundum atrial septal defect - Patrice Bouvagnet 00029030
0000025054 - Familial, autosomal dominant ? - - - - secundum atrial septal defect prolonged PR interval Mobitz II atrioventricular block atrial fibrillation - Patrice Bouvagnet 00029031
0000025056 - Familial, autosomal dominant ? - - - - perimembranous ventricular septal defect first degree atrioventricular block - Patrice Bouvagnet 00029033
0000025058 - Familial, autosomal dominant ? - - - - secundum atrial septal defect third degree atrioventricular block - Patrice Bouvagnet 00029034
0000025059 - Familial, autosomal dominant ? - - - - secundum atrial septal defect - Patrice Bouvagnet 00029035
0000025066 - Familial, autosomal dominant ? - - - - secundum atrial septal defect Mobitz II atrioventricular block - Patrice Bouvagnet 00029037
0000025068 - Familial, X-linked recessive 00y00m - - - - left superior vena cava draining to the coronary sinus common atrium complete atrioventricular septal defect pulmonic stenosis transposition of the great arteries with ventricular septal defect abdominal situs inversus right atrial isomerism pulmonary situs ambiguus with bilateral morphologic right lungs asplenia - Patrice Bouvagnet 00029038
0000025070 - Familial, X-linked recessive ? - - - - interrupted vena cava with azygous continuation polysplenia abdominal situs inversus biliary atresia extrahepatic - Patrice Bouvagnet 00029039
0000025073 - Familial, autosomal dominant ? - - - - pulmonary artery stenosis - Patrice Bouvagnet 00029041
0000025075 - Familial, autosomal dominant ? - - - - hypoplastic aortic arch pulmonary artery stenosis - Patrice Bouvagnet 00029042
0000025077 - Familial, autosomal dominant ? - - - - pulmonary artery stenosis - Patrice Bouvagnet 00029043
0000025078 - Familial, autosomal dominant ? - - - - pulmonary artery stenosis - Patrice Bouvagnet 00029044
0000025886 - Familial, autosomal dominant - - - - - Pulmonary valvar stenosis - Patrice Bouvagnet 00032450
0000025887 - Familial, autosomal dominant - - - - - Pulmonary valvar stenosis - Patrice Bouvagnet 00032451
0000026149 - Familial, autosomal dominant - - - - - Atrial septal defect ostium secundum type Valvular aortic stenosis Pulmonary hypertension Hypertelorism Pectus excavatum - Patrice Bouvagnet 00032719
0000027838 - Familial, autosomal recessive - - - 00y01m - - - Patrice Bouvagnet 00034442
0000027902 - Familial, autosomal recessive - - - 00y01m - interrupted inferior vena cava with azygous continuation, common atrium, common atrium, complete atrioventricular septal defect, transposition of the great arteries, pulmonary stenosis, peripheral pulmonary stenosis, intestinal malrotation, polysplenia - Patrice Bouvagnet 00034499
0000027903 - Familial, autosomal recessive - - - - - Bilateral superior vena with bridging vein, interrupted inferior vena cava with azygos continuation, hepatic veins to bilateral atriums, mitral atresia, single ventricle Left pulmonary isomerism, left sided liver, right-sided stomach, polysplenia. - Patrice Bouvagnet 00034500
0000027904 - Familial, autosomal recessive - - - - - Commun atrium, complete atrioventricular canal defect, dextrocardia Abnormality of abdominal situs - Patrice Bouvagnet 00034501
0000027905 - Familial, autosomal recessive - - - - - Common atrium, complete atrioventricular canal defect, transposition of the great arteries with ventricular septal defect intestinal malrotation, midline liver - Patrice Bouvagnet 00034502
0000027906 - Familial, autosomal recessive - - - - - Congenitally corrected transposition of the great arteries with ventricular septal defect, pulmonic stenosis Abnormal abdominal situs - Patrice Bouvagnet 00034503
0000027907 - Familial, autosomal recessive - - - - - Interrupted inferior vena cava with azygous continuation, partial anomalous pulmonary venous return, patent foramen ovale, inlet ventricular septal defect, perimembranous ventricular septal defect Abnormality of abdominal situs - Patrice Bouvagnet 00034504
0000027910 - Familial, autosomal recessive 00y00m01d - - - - Interrupted inferior vena cava with azygous continuation, Partial anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Partial atrioventricular canal defect, Hypoplastic left heart, dextrocardia - Patrice Bouvagnet 00034498
0000028013 - Familial, autosomal dominant - - - 00y01m - secundum atrial septal defect, aortic valve stenosis, pectus excavatum, hypertelorism - Patrice Bouvagnet 00037520
0000034051 - Familial, autosomal recessive - - - - - common atrium, dextrocardia - Patrice Bouvagnet 00043813
0000034052 - Familial, autosomal recessive - - - - - interrupted vena cava with azygous continuation, transposition of the great arteries, double outlet right ventricle, valvar pulmonary stenosis, dextrocardia - Patrice Bouvagnet 00043822
0000095121 - Unknown - - - - - - - Georges Nemer 00121860
0000201929 congenital heart disease Familial, autosomal dominant - - - - - see paper; ..., familial history atrial septal defect (HP:0001631), thyroglossal sinus, refractive errors eye, mitral stenosis (HP:0001718) - Ehsan Razmara 00264087
0000204884 - Unknown - - - - - - - Liliana Dain 00266970
0000204937 - Unknown - - - - - - - Liliana Dain 00001475
0000204938 - Unknown - - - - - - - Liliana Dain 00001476
0000204939 - Unknown - - - - - - - Liliana Dain 00001478
0000204949 - Unknown - - - - - - - Liliana Dain 00267013
0000227565 - Unknown 00y heterotaxy and complex congenital heart defect 00y 00y 00y LSVC, large coronary sinus, posterior VSD, pulmonary atresia, right aortic arch, Right: 4 lobes, left: 5 lobes, asplenia, intestinal malrotation - Patrice Bouvagnet 00300267
0000227572 - Familial, X-linked 00y - 00y - 00y Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVventriculo canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus - Patrice Bouvagnet 00300273
0000227574 - Familial, X-linked 00y - 00y 00y 00y Muscular Ventricular Septal Defect, Hypoplastic Left Ventricle, Pulmonary Atresia, L-Transposition of the Great Arteries - Patrice Bouvagnet 00300274
0000227575 - Familial, autosomal recessive 00y - 00y 00y - Complete AtrioVentricular canal, double outlet right ventricle, pulmonary trunk hypoplasia, Dextrocardia; stomach on the right; gall bladder of the left - Patrice Bouvagnet 00300275
0000227578 - Familial, autosomal recessive 00y - 00y 00y - - - Patrice Bouvagnet 00300277
0000227581 - Familial, autosomal recessive 00y - 00y 00y 00y Common atrium, partial atrioventricular canal, transposition of the great arteries, pulmonary atresia - Patrice Bouvagnet 00300278
0000227582 - Familial, autosomal recessive 00y - 00y 00y - Left Superior Vena Cava, complete AtrioVentricular canal, pulmonary atresia, right pulmonary isomerism, asplenia, intestinal malrotation, left pancreatic head, fused midline suprarenal glands - Patrice Bouvagnet 00300279
0000230468 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303392
0000230469 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303393
0000230470 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303394
0000230471 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303395
0000230472 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303396
0000230473 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303397
0000230474 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303398
0000230475 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303399
0000230476 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303400
0000230477 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303401
0000230478 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303402
0000230479 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303403
0000230480 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303404
0000230481 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303405
0000230482 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303406
0000230483 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303407
0000230484 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303408
0000230485 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ... - Johan den Dunnen 00303409
0000230486 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ..., neonatal cardiomyopathy; 3d-died circulatory failure - Johan den Dunnen 00303410
0000230487 congenital heart disease Familial, autosomal recessive - CVDD - - - see paper; ..., neonatal histiocytoid cardiomyopathy; 8d-died - Johan den Dunnen 00303411
0000230488 - Familial, autosomal recessive - - - - - see paper; ... - Johan den Dunnen 00303412
0000233104 double-outlet right ventricle, ventricular septal defect Familial, autosomal dominant - - - - - - - Yi-Qing Yang 00307305
0000249434 congenital heart disease (CHD) Familial, autosomal dominant - - - - - patent ductus arteriosus (PDA), pulmonary stenosis (PS), and atrial septal defect (ASD). - Yi-Qing Yang 00330866
0000250759 - Familial, autosomal recessive - - - - - muscular ventricular septal defect, tricuspid atresia, hypoplastic right ventricle, no heterotaxy - Johan den Dunnen 00332571
0000269267 congenital heart disease Isolated (sporadic) 05y10m - - - - birth 40w, weight 2400 gg (SD -2.48); hypoglycaemia, jaundice and hypothermia; 8w-social smile, 7m-sit, 9m-walk, 11m-first words; height 108.5 cm (SD -0.24), weight 18.9 kg (SD 0.12), OFC 48.7 cm (SD -2.69); pulmonary valvar abnormality; sparse scalp hair; premature loss of primary teeth; delayed speech and language development; microcephaly; bilateral conductive hearing impairment; broad thumb, short digit; dry skin; ectodermal dysplasia, Lipson syndrome; feeding difficulties - Johan den Dunnen 00374058
0000269268 congenital heart disease Isolated (sporadic) 07y01m - - - - birth 33w, weight 1770 grams (SD -0.83); 2-2.5y-walk; length 121 cm (SD -0.08), weight 44.3 kg (SD 3.77), OFC 50.7 cm (SD -1.81); atrioventricular septal defect; prominent forehead, prominent nasal bridge, disorganised left eyebrow with both medial and lateral flare, anteverted nares, full lips, wide-spaced teeth; global developmental delay; motor delay; specific learning disability; attention deficit hyperactivity disorder; microcephaly, Arnold-Chiari type I malformation, microcephaly; nystagmus - Johan den Dunnen 00374059
0000269269 congenital heart disease Isolated (sporadic) 04y10m - - - - birth-41w, weight 3685 grams (SD 0.27); abnormality of prenatal development or birth; 5w-social smile; OFC 56 cm (SD 2.19); trioventricular septal defect; sparse scalp hair, high anterior hairline, brachycephaly, depressed nasal bridge, small, widely spaced teeth, Frontal bossing; thoracic cavity stridor; deep plantar creases, 2-3 toe syndactyly, ifnger syndactyly; fragile nails, thin skin, pigmented nevi; scoliosis; generalized hypotonia; asogastric feeding - Johan den Dunnen 00374060
0000272444 TAB2 haploinsufficiency Familial - TAB2 haploinsufficiency - - - Facial features (long/round face, wide forehead, maxillary hypoplasia); Cardiovascular Features (Cardiomyopathy, ASD/PFO); Musculoskeletal features; Skin features. - Lucia Micale 00377292
0000272445 TAB2 haploinsufficiency Familial - TAB2 haploinsufficiency - - - Facial features; Cardiovascular Features; Musculoskeletal features; Skin features. - Lucia Micale 00377293
0000272452 TAB2 haploinsufficiency Familial - TAB2 haploinsufficiency - - - Facial features; Cardiovascular Features; Musculoskeletal features; Skin features. - Lucia Micale 00377300
0000294761 CHD Familial, autosomal dominant - CHD - - patent ductus arteriosus, ventricular septal defect and pulmonary stenosis - SMAD1 Yi-Qing Yang 00401998
0000300316 congenital heart disease (CHD) Familial, autosomal dominant - congenital heart disease - - congenital heart disease patent ductus arteriosus, bicuspid aortic valve and ventricular septal defect SMAD4 Yi-Qing Yang 00408187
0000301509 congenital heart disease (CHD) Familial, autosomal dominant - congenital heart disease - - congenital heart disease - SOX18 Yi-Qing Yang 00409392
0000302362 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410257
0000302543 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410436
0000302544 non-syndromic CHD Unknown - - - - - tetralogy of Fallot - Alaaeldin Fayez 00410437
0000302545 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410438
0000302546 non-syndromic CHD Unknown - - - - - atrial septal defect - Alaaeldin Fayez 00410439
0000302547 non-syndromic CHD Unknown - - - - - atrial septal defect - Alaaeldin Fayez 00410440
0000302548 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410441
0000302549 non-syndromic CHD Unknown - - - - - atrial septal defect - Alaaeldin Fayez 00410442
0000302550 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410443
0000302551 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410444
0000302552 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410445
0000302553 non-syndromic CHD Unknown - - - - - ventricular septal defect/atrial septal defect - Alaaeldin Fayez 00410446
0000302554 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410447
0000302555 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410448
0000302556 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410449
0000302557 non-syndromic CHD Unknown - - - - - atrial septal defect - Alaaeldin Fayez 00410450
0000302558 non-syndromic CHD Unknown - - - - - ventricular septal defect - Alaaeldin Fayez 00410451
0000302559 non-syndromic CHD Unknown - - - - - tetralogy of Fallot/atrial septal defect - Alaaeldin Fayez 00410452
0000302560 non-syndromic CHD Unknown - - - - - ventricular septal defect/atrial septal defect - Alaaeldin Fayez 00410453
0000302561 non-syndromic CHD Unknown - - - - - tetralogy of Fallot - Alaaeldin Fayez 00410454
0000302562 non-syndromic CHD Unknown - - - - - tetralogy of Fallot - Alaaeldin Fayez 00410455
0000309728 congenital heart defect, left ventricular non-compaction Isolated (sporadic) 10y MRXS34 - - - atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, right ventricular hypertrophy, ventricular septal defect; no hypotonia; language delay; gross motor delay; feeding problems; MRI brain 1m-normal, 1y4m-mild truncation splenium of corpus callosum; relative macrocephaly, plagiocephaly, bilateral epicanthal folds, downslanting palpebral fissures, bilateral accessory nipples, widely spaced teeth, fifth finger clinodactyly - Johan den Dunnen 00418359
0000309729 congenital heart defect, left ventricular non-compaction Familial, X-linked recessive 5y MRXS34 - - - atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, ventricular septal defect; hypotonia; language delay; gross motor delay; feeding problems; MRI brain 3m-normal; relative macrocephaly, frontal bossing, café au lait and hypopigmented macules, planovalgus - Johan den Dunnen 00418360
0000309730 congenital heart defect, left ventricular non-compaction Familial, X-linked 01y03m MRXS34 - - - no atrial septal defect, left ventricular non-compaction, no ventricular septal defect, patent foramen ovale; hypotonia; ischaemic brain injury; gross motor delay; no feeding problems; MRI brain 10m-underdeveloped corpus callosum, persistent cavum septum pellucidum, dilated right ventricular system, superiorly positioned fourth ventricle, mild midbrain elongation, adysplasia cerebellum and mesial surfaces occipital and inferior parietal lobules; relative macrocephaly, frontal bossing; maternal half-brother died perinatally with Ebstein anomaly, 5y maternal half-sister heart murmur - Johan den Dunnen 00418361
0000326313 congenital heart disease (CHD), tetralogy of Fallot Isolated (sporadic) 11 months tetralogy of Fallot - - tetralogy of Fallot - GATA4 Tyr236* mutation Yi-Qing Yang 00436129
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