| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (38.2%) |
8599795 |
Blue rubber bleb nevus syndrome. Carr MM, Jamieson CG, Lal G. Can J Surg. 1996;39(1):59-62. |
| Hemangioma Iron deficiency anemia Gastrointestinal hemorrhage | ||
| Adult Females Hemangioma Homo sapiens Intestinal Neoplasms Nevus, Blue Skin Neoplasms Syndrome Tetralogy of Fallot | ||
| 2 (37.8%) |
12189411 |
Perioperative course in two cases of tetralogy of fallot with portal venous atresia. Hishitani T, Hoshino K, Ogawa K, Koyanagi K, Nakamura Y. Pediatr Cardiol. 2002;23(5):545-7. |
| Portal hypertension Hypothermia Hematemesis | ||
| Females Homo sapiens Infant Male Portal Hypertension Tetralogy of Fallot X-Ray Computed Tomography | ||
| 3 (37.7%) |
27777699 (5075362) |
Tetralogy of Fallot and pheochromocytoma in a situs inversus totalis: An unusual association. Tapia-Orihuela RK, Huaringa-Marcelo J, Loja-Oropeza D. J Cardiovasc Thorac Res. 2016;8(3):132-136. |
| Hypertension Cyanosis Edema Hepatomegaly | ||
| 3 (37.7%) |
1640669 |
[Combined heart defects: tetralogy of Fallot, common atrium and a single atrioventricular valve diagnosed by echocardiography]. Zach M, Dowgird M, Gorny J, Shafie D. Kardiol Pol. 1992;36(4):227-9. |
| Cyanosis Edema Hepatomegaly | ||
| Adult Echocardiography Endocardial Cushion Defects Homo sapiens Male Tetralogy of Fallot | ||
| 5 (33.5%) |
28992910 |
Extreme Tetralogy of Fallot With Polycythemia in a Ferret (Mustela putorius furo). Dias S, Planellas M, Canturri A, Martorell J. Top Companion Anim Med. 2017;32(2):80-85. |
| Apathy Cyanosis Eosinophilia | ||
| Animals Echocardiography Ferrets Male Pneumocystis carinii Polycythemia Tetralogy of Fallot | ||
| 6 (33.4%) |
21626672 |
Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene. Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA. Am J Med Genet A. 2011;155A(7):1673-9. |
| Thrombocytopenia Anemia Chromosome breakage | ||
| RUNX1 | ||
| Chromosome Breakage Chromosome Deletion Chromosomes, Human, Pair 21 Fanconi Anemia Fatal Outcome Females Homo sapiens Infant Infant, Newborn Mutagens Phenotype | ||
| 7 (32.8%) |
1949968 |
Phenytoin hypersensitivity syndrome: a case report. Howard PA, Engen PL, Dunn MI. DICP. 1991;25(9):929-32. |
| Eosinophilia Fever Lymphadenopathy | ||
| Adult Chemical and Drug Induced Liver Injury Differential Diagnosis Drug Allergy Homo sapiens Lymphatic Diseases Male Physical Exertion Syndrome Time Factors | ||
| 8 (31.4%) |
4951233 |
Thrombocytopenia with absent radius (TAR). Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA. Medicine (Baltimore). 1969;48(6):411-39. |
| Thrombocytopenia Eosinophilia Anemia | ||
| Adult Cell Count Child Child, Preschool Congenital Heart Defects Differential Diagnosis Females Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Male Megakaryocytes Syndrome Thrombocytopenia | ||
| 9 (31.4%) |
22915449 |
Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy. Hoefer J, Streif W, Kilo J, Grimm M, Berger G, Velik-Salchner C. Klin Padiatr. 2012;224(6):382-5. |
| Ventricular septal defect Anemia | ||
| GATA1 | ||
| Austria Bone Marrow Child Follow-Up Studies GATA1 Transcription Factor Genetic Diseases, X-Linked Hemostasis, Surgical Homo sapiens Male Medical Tourism Platelet Function Tests Postoperative Care Tetralogy of Fallot Thrombocytopenia Transcription, Genetic | ||
| 10 (31.2%) |
22923029 |
Atherosclerosis causing recurrent catastrophic aortopulmonary shunt dehiscence in a patient with Alagille syndrome. May L, Hanley FL, Connolly AJ, Reddy S. Pediatr Cardiol. 2013;34(8):1945-8. |
| Hypertension Cholestasis Hypertriglyceridemia | ||
| Alagille Syndrome Atherosclerosis Child, Preschool Echocardiography Females Homo sapiens Postoperative Complications |
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 |