Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
36 (23.8%) |
24832712 |
Pentology of Fallot's presenting with complete heart block. Sethi R, Khare R, Pradhan A, Narain VS. BMJ Case Rep. 2014;2014:. |
Cyanosis Overriding aorta | ||
Atrioventricular Block Congenital Heart Defects Cyanosis Differential Diagnosis Echocardiography, Doppler, Color Echocardiography, Three-Dimensional Electrocardiography Homo sapiens Male Monitoring, Physiologic Radiography, Thoracic Refusal of Treatment Right Ventricular Hypertrophy Tetralogy of Fallot Trilogy of Fallot Ventricular Septal Defects | ||
36 (23.8%) |
22569496 |
[Biventricular repair with end-to-side aorta to pulmonary artery central shunt for ventricular septal defect, severe pulmonary stenosis with hypoplastic pulmonary artery]. Honda Y, Watanabe M, Ishikawa N, Yokozawa M, Takamuro M, Haseyama K, Wada T, Nawa T. Kyobu Geka. 2012;65(5):385-8. |
Cyanosis Vascular dilatation | ||
Aorta Females Homo sapiens Infant Pulmonary Valve Stenosis Ventricular Septal Defects | ||
36 (23.8%) |
20049461 |
Restrictive ventricular septal defect and critical subaortic stenosis in tetralogy of Fallot. Kerst G, Kaulitz R, Sieverding L, Apitz C, Ziemer G, Hofbeck M. Clin Res Cardiol. 2010;99(4):247-9. |
Cyanosis Overriding aorta | ||
Catheterization Cyanosis Echocardiography Homo sapiens Hypotension Infant, Newborn Severity of Illness Index Tetralogy of Fallot Ventricular Septal Defects | ||
36 (23.8%) |
19717356 |
Uncorrected pink tetralogy of Fallot in an adult patient: incidental CT findings. Siriapisith T, Wasinrat J, Tresukosol D. J Cardiovasc Comput Tomogr. 2010;4(1):58-61. |
Cyanosis Overriding aorta | ||
Homo sapiens Incidental Findings Male Middle Aged Tetralogy of Fallot X-Ray Computed Tomography | ||
36 (23.8%) |
18810704 |
Tetralogy of fallot and absence of left pulmonary artery. Halit V, Olgunturk R, Erer D, Kula S. Thorac Cardiovasc Surg. 2008;56(7):430-2. |
Cyanosis Aortopulmonary collateral arteries | ||
Child Collateral Circulation Cyanosis Homo sapiens Male Tetralogy of Fallot Vascular Surgical Procedures | ||
36 (23.8%) |
17095983 |
Unilateral absence of a pulmonary artery in absent pulmonary valve syndrome: a case report and review of literature. Abbag F. Ann Thorac Cardiovasc Surg. 2006;12(5):368-72. |
Cyanosis Vascular dilatation | ||
Child Differential Diagnosis Follow-Up Studies Homo sapiens Male Tetralogy of Fallot | ||
36 (23.8%) |
17057907 |
Complete repair in total atrioventricular canal defect with cyanosis. Tanamati C, Suguimoto RL, Atik E, Copolla SG, Galles FR, Aiello VD, Barbero-Marcial ML. Arq Bras Cardiol. 2006;87(3):e1-3. |
Hypertension Cyanosis Persistent left superior vena cava | ||
Cyanosis Down Syndrome Females Heart Septal Defects Homo sapiens Infant Severity of Illness Index | ||
36 (23.8%) |
16047114 |
Case of tetralogy of Fallot associated with hypoplasia of the right pulmonary artery. The right internal mammary artery as an aortopulmonary collateral artery in tetralogy of Fallot. Bostan OM, Cil E. Int J Cardiovasc Imaging. 2005;21(4):369-71. |
Cyanosis Aortopulmonary collateral arteries | ||
Aorta Collateral Circulation Echocardiography Electrocardiography Females Homo sapiens Infant Mammary Arteries Pulmonary Circulation Right Ventricular Hypertrophy Tetralogy of Fallot | ||
36 (23.8%) |
15758549 |
Balloon dilatation of pulmonary valve in Tetralogy of Fallot's. Kohli V. Indian J Pediatr. 2005;72(2):181. |
Cyanosis Vascular dilatation | ||
Catheterization Homo sapiens Infant Male Pulmonary Valve Stenosis Tetralogy of Fallot | ||
36 (23.8%) |
15488093 |
Survival to the age of 52 years in a man with unrepaired tetralogy of Fallot. Makaryus AN, Aronov I, Diamond J, Park CH, Rosen SE, Stephen B. Echocardiography. 2004;21(7):631-7. |
Cyanosis Overriding aorta | ||
Aortography Bundle-Branch Block Echocardiography, Doppler Electrocardiography Fatal Outcome Heart Atrium Homo sapiens Male Middle Aged Right Ventricular Hypertrophy Tetralogy of Fallot Ventricular Outflow Obstruction |
Total: 12
HPO ID | Term | Frequency |
---|---|---|
HP:0000337 | Broad forehead | Very frequent (99-80%) |
HP:0001156 | Brachydactyly | Very frequent (99-80%) |
HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
HP:0005105 | Abnormal nasal morphology | Very frequent (99-80%) |
HP:0000028 | Cryptorchidism | Frequent (79-30%) |
HP:0000233 | Thin vermilion border | Frequent (79-30%) |
HP:0000268 | Dolichocephaly | Frequent (79-30%) |
HP:0000520 | Proptosis | Frequent (79-30%) |
HP:0001636 | Tetralogy of Fallot | Frequent (79-30%) |
HP:0004467 | Preauricular pit | Frequent (79-30%) |
HP:0009891 | Underdeveloped supraorbital ridges | Frequent (79-30%) |
Total: 307
HPO ID | Term | # of case reports |
---|---|---|
HP:0001629 | Ventricular septal defect | 103 |
HP:0001643 | Patent ductus arteriosus | 40 |
HP:0004756 | Ventricular tachycardia | 33 |
HP:0100584 | Endocarditis | 31 |
HP:0000961 | Cyanosis | 30 |
HP:0031834 | Aortopulmonary collateral arteries | 22 |
HP:0000822 | Hypertension | 18 |
HP:0002617 | Dilatation | 16 |
HP:0011604 | Aortopulmonary window | 16 |
HP:0002098 | Respiratory distress | 13 |
HP:0000252 | Microcephaly | 12 |
HP:0011590 | Double aortic arch | 12 |
HP:0031625 | Pseudoaneurysm | 12 |
HP:0001635 | Congestive heart failure | 10 |
HP:0002623 | Overriding aorta | 10 |
HP:0004415 | Pulmonary artery stenosis | 10 |
HP:0001667 | Right ventricular hypertrophy | 9 |
HP:0005180 | Tricuspid regurgitation | 9 |
HP:0001642 | Pulmonic stenosis | 8 |
HP:0001659 | Aortic regurgitation | 8 |
HP:0001694 | Right-to-left shunt | 8 |
HP:0001649 | Tachycardia | 7 |
HP:0002094 | Dyspnea | 7 |
HP:0004308 | Ventricular arrhythmia | 7 |
HP:0005160 | Total anomalous pulmonary venous return | 7 |
HP:0011611 | Interrupted aortic arch | 7 |
HP:0000347 | Micrognathia | 6 |
HP:0001279 | Syncope | 6 |
HP:0002575 | Tracheoesophageal fistula | 6 |
HP:0004749 | Atrial flutter | 6 |
HP:0004961 | Pulmonary artery sling | 6 |
HP:0005301 | Persistent left superior vena cava | 6 |
HP:0006689 | Bacterial endocarditis | 6 |
HP:0010882 | Pulmonary valve atresia | 6 |
HP:0011675 | Arrhythmia | 6 |
HP:0001028 | Hemangioma | 5 |
HP:0001647 | Bicuspid aortic valve | 5 |
HP:0001945 | Fever | 5 |
HP:0002105 | Hemoptysis | 5 |
HP:0004935 | Pulmonary artery atresia | 5 |
HP:0025615 | Abscess | 5 |
HP:0030049 | Brain abscess | 5 |
HP:0031633 | Isolation of the left subclavian artery | 5 |
HP:0000369 | Low-set ears | 4 |
HP:0000829 | Hypoparathyroidism | 4 |
HP:0001508 | Failure to thrive | 4 |
HP:0001748 | Polysplenia | 4 |
HP:0001750 | Single ventricle | 4 |
HP:0002666 | Pheochromocytoma | 4 |
HP:0002878 | Respiratory failure | 4 |
HP:0002901 | Hypocalcemia | 4 |
HP:0005162 | Left ventricular dysfunction | 4 |
HP:0010310 | Chylothorax | 4 |
HP:0010775 | Vascular ring | 4 |
HP:0011683 | Restrictive ventricular septal defect | 4 |
HP:0012722 | Heart block | 4 |
HP:0000028 | Cryptorchidism | 3 |
HP:0000238 | Hydrocephalus | 3 |
HP:0000316 | Hypertelorism | 3 |
HP:0000508 | Ptosis | 3 |
HP:0001195 | Single umbilical artery | 3 |
HP:0001511 | Intrauterine growth retardation | 3 |
HP:0001541 | Ascites | 3 |
HP:0001561 | Polyhydramnios | 3 |
HP:0001638 | Cardiomyopathy | 3 |
HP:0001650 | Aortic valve stenosis | 3 |
HP:0001708 | Right ventricular failure | 3 |
HP:0001718 | Mitral stenosis | 3 |
HP:0001873 | Thrombocytopenia | 3 |
HP:0002090 | Pneumonia | 3 |
HP:0002204 | Pulmonary embolism | 3 |
HP:0003546 | Exercise intolerance | 3 |
HP:0004937 | Pulmonary artery aneurysm | 3 |
HP:0004942 | Aortic aneurysm | 3 |
HP:0004969 | Peripheral pulmonary artery stenosis | 3 |
HP:0005110 | Atrial fibrillation | 3 |
HP:0005182 | Bicuspid pulmonary valve | 3 |
HP:0011537 | Left atrial isomerism | 3 |
HP:0011565 | Common atrium | 3 |
HP:0100749 | Chest pain | 3 |
HP:0000047 | Hypospadias | 2 |
HP:0000076 | Vesicoureteral reflux | 2 |
HP:0000126 | Hydronephrosis | 2 |
HP:0000248 | Brachycephaly | 2 |
HP:0000256 | Macrocephaly | 2 |
HP:0000343 | Long philtrum | 2 |
HP:0000452 | Choanal stenosis | 2 |
HP:0000568 | Microphthalmia | 2 |
HP:0000767 | Pectus excavatum | 2 |
HP:0000969 | Edema | 2 |
HP:0001159 | Syndactyly | 2 |
HP:0001249 | Intellectual disability | 2 |
HP:0001287 | Meningitis | 2 |
HP:0001297 | Stroke | 2 |
HP:0001305 | Dandy-Walker malformation | 2 |
HP:0001396 | Cholestasis | 2 |
HP:0001562 | Oligohydramnios | 2 |
HP:0001634 | Mitral valve prolapse | 2 |
HP:0001645 | Sudden cardiac death | 2 |
HP:0001655 | Patent foramen ovale | 2 |
HP:0001744 | Splenomegaly | 2 |
HP:0001824 | Weight loss | 2 |
HP:0001962 | Palpitations | 2 |
HP:0002023 | Anal atresia | 2 |
HP:0002047 | Malignant hyperthermia | 2 |
HP:0002089 | Pulmonary hypoplasia | 2 |
HP:0002563 | Constrictive pericarditis | 2 |
HP:0002650 | Scoliosis | 2 |
HP:0002777 | Tracheal stenosis | 2 |
HP:0002779 | Tracheomalacia | 2 |
HP:0002780 | Bronchomalacia | 2 |
HP:0002835 | Aspiration | 2 |
HP:0004322 | Short stature | 2 |
HP:0004467 | Preauricular pit | 2 |
HP:0004927 | Pulmonary artery dilatation | 2 |
HP:0004947 | Arteriovenous fistula | 2 |
HP:0005133 | Right ventricular dilatation | 2 |
HP:0005134 | Absence of the pulmonary valve | 2 |
HP:0007185 | Loss of consciousness | 2 |
HP:0008198 | Congenital hypoparathyroidism | 2 |
HP:0010444 | Pulmonary insufficiency | 2 |
HP:0010628 | Facial palsy | 2 |
HP:0011220 | Prominent forehead | 2 |
HP:0011623 | Muscular ventricular septal defect | 2 |
HP:0011719 | Supracardiac total anomalous pulmonary venous connection | 2 |
HP:0012089 | Arteritis | 2 |
HP:0012378 | Fatigue | 2 |
HP:0012382 | Left-to-right shunt | 2 |
HP:0012385 | Camptodactyly | 2 |
HP:0012418 | Hypoxemia | 2 |
HP:0025356 | Psychomotor retardation | 2 |
HP:0030084 | Clinodactyly | 2 |
HP:0030148 | Heart murmur | 2 |
HP:0030853 | Heterotaxy | 2 |
HP:0031564 | Bronchial isomerism | 2 |
HP:0031655 | Quadricuspid aortic valve | 2 |
HP:0040223 | Pulmonary hemorrhage | 2 |
HP:0100753 | Schizophrenia | 2 |
HP:0100790 | Hernia | 2 |
HP:0000014 | Abnormality of the bladder | 1 |
HP:0000021 | Megacystis | 1 |
HP:0000048 | Bifid scrotum | 1 |
HP:0000054 | Micropenis | 1 |
HP:0000062 | Ambiguous genitalia | 1 |
HP:0000071 | Ureteral stenosis | 1 |
HP:0000072 | Hydroureter | 1 |
HP:0000085 | Horseshoe kidney | 1 |
HP:0000123 | Nephritis | 1 |
HP:0000189 | Narrow palate | 1 |
HP:0000243 | Trigonocephaly | 1 |
HP:0000246 | Sinusitis | 1 |
HP:0000265 | Mastoiditis | 1 |
HP:0000269 | Prominent occiput | 1 |
HP:0000286 | Epicanthus | 1 |
HP:0000322 | Short philtrum | 1 |
HP:0000325 | Triangular face | 1 |
HP:0000329 | Facial hemangioma | 1 |
HP:0000426 | Prominent nasal bridge | 1 |
HP:0000445 | Wide nose | 1 |
HP:0000470 | Short neck | 1 |
HP:0000476 | Cystic hygroma | 1 |
HP:0000486 | Strabismus | 1 |
HP:0000488 | Retinopathy | 1 |
HP:0000501 | Glaucoma | 1 |
HP:0000518 | Cataract | 1 |
HP:0000527 | Long eyelashes | 1 |
HP:0000528 | Anophthalmia | 1 |
HP:0000529 | Progressive visual loss | 1 |
HP:0000581 | Blepharophimosis | 1 |
HP:0000601 | Hypotelorism | 1 |
HP:0000612 | Iris coloboma | 1 |
HP:0000846 | Adrenal insufficiency | 1 |
HP:0000921 | Missing ribs | 1 |
HP:0000960 | Sacral dimple | 1 |
HP:0001007 | Hirsutism | 1 |
HP:0001022 | Albinism | 1 |
HP:0001082 | Cholecystitis | 1 |
HP:0001181 | Adducted thumb | 1 |
HP:0001199 | Triphalangeal thumb | 1 |
HP:0001217 | Clubbing | 1 |
HP:0001250 | Seizures | 1 |
HP:0001256 | Intellectual disability, mild | 1 |
HP:0001257 | Spasticity | 1 |
HP:0001266 | Choreoathetosis | 1 |
HP:0001270 | Motor delay | 1 |
HP:0001289 | Confusion | 1 |
HP:0001298 | Encephalopathy | 1 |
HP:0001334 | Communicating hydrocephalus | 1 |
HP:0001409 | Portal hypertension | 1 |
HP:0001528 | Hemihypertrophy | 1 |
HP:0001540 | Diastasis recti | 1 |
HP:0001545 | Anteriorly placed anus | 1 |
HP:0001653 | Mitral regurgitation | 1 |
HP:0001658 | Myocardial infarction | 1 |
HP:0001662 | Bradycardia | 1 |
HP:0001678 | Atrioventricular block | 1 |
HP:0001680 | Coarctation of aorta | 1 |
HP:0001695 | Cardiac arrest | 1 |
HP:0001712 | Left ventricular hypertrophy | 1 |
HP:0001746 | Asplenia | 1 |
HP:0001880 | Eosinophilia | 1 |
HP:0001903 | Anemia | 1 |
HP:0001919 | Acute kidney injury | 1 |
HP:0001941 | Acidosis | 1 |
HP:0002015 | Dysphagia | 1 |
HP:0002025 | Anal stenosis | 1 |
HP:0002027 | Abdominal pain | 1 |
HP:0002045 | Hypothermia | 1 |
HP:0002069 | Generalized tonic-clonic seizures | 1 |
HP:0002079 | Hypoplasia of the corpus callosum | 1 |
HP:0002084 | Encephalocele | 1 |
HP:0002093 | Respiratory insufficiency | 1 |
HP:0002097 | Emphysema | 1 |
HP:0002104 | Apnea | 1 |
HP:0002107 | Pneumothorax | 1 |
HP:0002119 | Ventriculomegaly | 1 |
HP:0002138 | Subarachnoid hemorrhage | 1 |
HP:0002155 | Hypertriglyceridemia | 1 |
HP:0002202 | Pleural effusion | 1 |
HP:0002240 | Hepatomegaly | 1 |
HP:0002248 | Hematemesis | 1 |
HP:0002249 | Melena | 1 |
HP:0002301 | Hemiplegia | 1 |
HP:0002315 | Headache | 1 |
HP:0002410 | Aqueductal stenosis | 1 |
HP:0002414 | Spina bifida | 1 |
HP:0002448 | Progressive encephalopathy | 1 |
HP:0002566 | Intestinal malrotation | 1 |
HP:0002580 | Volvulus | 1 |
HP:0002595 | Ileus | 1 |
HP:0002615 | Hypotension | 1 |
HP:0002616 | Aortic root aneurysm | 1 |
HP:0002634 | Arteriosclerosis | 1 |
HP:0002668 | Paraganglioma | 1 |
HP:0002751 | Kyphoscoliosis | 1 |
HP:0002754 | Osteomyelitis | 1 |
HP:0002870 | Obstructive sleep apnea | 1 |
HP:0002875 | Exertional dyspnea | 1 |
HP:0002948 | Vertebral fusion | 1 |
HP:0002974 | Radioulnar synostosis | 1 |
HP:0003124 | Hypercholesterolemia | 1 |
HP:0003316 | Butterfly vertebrae | 1 |
HP:0004383 | Hypoplastic left heart | 1 |
HP:0004392 | Prune belly | 1 |
HP:0004420 | Arterial thrombosis | 1 |
HP:0004510 | Pancreatic islet-cell hyperplasia | 1 |
HP:0004554 | Generalized hypertrichosis | 1 |
HP:0004755 | Supraventricular tachycardia | 1 |
HP:0004952 | Pulmonary arteriovenous fistulas | 1 |
HP:0005176 | Dysplastic aortic valve | 1 |
HP:0005214 | Intestinal obstruction | 1 |
HP:0005280 | Depressed nasal bridge | 1 |
HP:0005521 | Disseminated intravascular coagulation | 1 |
HP:0005912 | Biliary atresia | 1 |
HP:0006539 | Bronchial cartilage hypoplasia | 1 |
HP:0006682 | Ventricular extrasystoles | 1 |
HP:0008443 | Spinal deformities | 1 |
HP:0008689 | Bilateral cryptorchidism | 1 |
HP:0009730 | Rhabdomyoma | 1 |
HP:0009743 | Distichiasis | 1 |
HP:0009800 | Maternal diabetes | 1 |
HP:0009917 | Persistent pupillary membrane | 1 |
HP:0009918 | Ectopia pupillae | 1 |
HP:0010442 | Polydactyly | 1 |
HP:0010446 | Tricuspid stenosis | 1 |
HP:0010772 | Anomalous pulmonary venous return | 1 |
HP:0010866 | Abdominal wall defect | 1 |
HP:0011330 | Metopic synostosis | 1 |
HP:0011410 | Caesarian section | 1 |
HP:0011681 | Subarterial ventricular septal defect | 1 |
HP:0011682 | Perimembranous ventricular septal defect | 1 |
HP:0011704 | Sick sinus syndrome | 1 |
HP:0011721 | Infracardiac total anomalous pulmonary venous connection | 1 |
HP:0011886 | Hyphema | 1 |
HP:0011968 | Feeding difficulties | 1 |
HP:0011986 | Ectopic ossification | 1 |
HP:0012032 | Lipoma | 1 |
HP:0012165 | Oligodactyly | 1 |
HP:0012180 | Cystic medial necrosis | 1 |
HP:0012444 | Brain atrophy | 1 |
HP:0012745 | Short palpebral fissure | 1 |
HP:0025104 | Capillary malformation | 1 |
HP:0025143 | Chills | 1 |
HP:0025342 | Central retinal artery occlusion | 1 |
HP:0030025 | Auricular pit | 1 |
HP:0030171 | Perirenal hematoma | 1 |
HP:0030732 | Dysplastic tricuspid valve | 1 |
HP:0030882 | Coronary artery aneurysm | 1 |
HP:0031273 | Shock | 1 |
HP:0031560 | Coronary cameral fistula | 1 |
HP:0031563 | Coronary arteriovenous fistula | 1 |
HP:0031677 | Polymorphic ventricular tachycardia | 1 |
HP:0031853 | Isomerism | 1 |
HP:0031854 | Left Isomerism | 1 |
HP:0031864 | Bacteremia | 1 |
HP:0032092 | Left ventricular outflow tract obstruction | 1 |
HP:0032252 | Granuloma | 1 |
HP:0040019 | Finger clinodactyly | 1 |
HP:0100021 | Cerebral palsy | 1 |
HP:0100259 | Postaxial polydactyly | 1 |
HP:0100333 | Unilateral cleft lip | 1 |
HP:0100518 | Dysuria | 1 |
HP:0100598 | Pulmonary edema | 1 |
HP:0100614 | Myositis | 1 |
HP:0100632 | Pulmonary sequestration | 1 |
HP:0100750 | Atelectasis | 1 |
HP:0100806 | Sepsis | 1 |
Total: 11
Gene Symbol | Gene Name | Entrez Gene ID |
---|---|---|
ZFPM2 | zinc finger protein, FOG family member 2 | 23414 |
GATA4 | GATA binding protein 4 | 2626 |
JAG1 | jagged canonical Notch ligand 1 | 182 |
NKX2-5 | NK2 homeobox 5 | 1482 |
GATA5 | GATA binding protein 5 | 140628 |
GJA5 | gap junction protein alpha 5 | 2702 |
NKX2-6 | NK2 homeobox 6 | 137814 |
GDF1 | growth differentiation factor 1 | 2657 |
CITED2 | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 | 10370 |
GATA6 | GATA binding protein 6 | 2627 |
TBX1 | T-box 1 | 6899 |