Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
11 (30.0%) |
24594084 (3984729) |
Tetralogy of Fallot and atrial septal defect in a white Bengal Tiger cub (Panthera tigris tigris). Pazzi P, Lim CK, Steyl J. Acta Vet Scand. 2014;56:12. |
Cyanosis Hypothermia Overriding aorta | ||
Animals Animals, Newborn Atrial Septal Defects Blood Gas Analysis Echocardiography Fatal Outcome Females Tetralogy of Fallot Tigers | ||
11 (30.0%) |
18626210 |
Unoperated tetralogy of Fallot in a 68-year-old patient. Yokusoglu M, Koz C, Baysan O, Baris N. Turk Kardiyol Dern Ars. 2008;36(3):175-7. |
Diabetes mellitus Cyanosis Vascular dilatation | ||
Atrial Fibrillation Complications of Diabetes Mellitus Cyanosis Dyspnea Edema Females Homo sapiens Hypothyroidism Refusal of Treatment Tetralogy of Fallot | ||
11 (30.0%) |
14564983 |
Late-onset Blalock-Taussig shunt occlusion due to a subclavian artery pseudoaneurysm. Santoro G, Palma G, Merlino E, Bigazzi MC, Palladino MT, Calabro R, Vosa C. Ital Heart J. 2003;4(8):559-61. |
Cyanosis Acidosis Pseudoaneurysm | ||
Acidosis Cyanosis Fatal Outcome Homo sapiens Infant Pseudoaneurysm Tetralogy of Fallot | ||
14 (29.1%) |
17283405 |
Pentalogy of Fallot in a Korean Sapsaree dog. Park IC, Lee HS, Kim JT, Lee JS, Lee SG, Hyun C. J Vet Med Sci. 2007;69(1):73-6. |
Cyanosis Ascites | ||
Animals Canis familiaris Diuretics Dog Diseases Electrocardiography Females Tetralogy of Fallot Vasodilator Agents | ||
15 (28.8%) |
10999706 |
Biliary atresia splenic malformation syndrome--is it a result of embryonically midline rotational defects? A case report. Deveci MS, Deveci G. J Pediatr Surg. 2000;35(9):1377-80. |
Polysplenia Biliary atresia | ||
Biliary Atresia Fatal Outcome Homo sapiens Infant, Newborn Intestinal Atresia Male Pancreas Spleen Syndrome Tetralogy of Fallot | ||
16 (28.4%) |
12692833 |
Idiopathic calcific constrictive pericarditis causing pulmonary stenosis associated with a ventricular septal defect mimicking tetralogy of Fallot. Chien SJ, Liang CD, Ko SF, Chang JP. J Clin Ultrasound. 2003;31(4):222-5. |
Cyanosis Edema Constrictive pericarditis | ||
Calcinosis Differential Diagnosis Echocardiography Homo sapiens Male Pericarditis, Constrictive Pulmonary Valve Stenosis Tetralogy of Fallot Ventricular Septal Defects X-Ray Computed Tomography | ||
17 (28.4%) |
30087816 (6075643) |
Post-tuberculosis Aspergilloma in Undiagnosed Tetralogy of Fallot. Bhatti HA, Kumari S, Hasan M, Siddiqui A, Tariq SM, Haider SA. Cureus. 2018;10(6):e2740. |
Cyanosis Right-to-left shunt Fever | ||
18 (28.3%) |
10536461 |
CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11. Sergi C, Serpi M, Muller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE. Pathologica. 1999;91(3):166-72. |
Ventricular septal defect Patent ductus arteriosus Hypocalcemia Pulmonary hemorrhage | ||
DGCR | ||
Cell Movement Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 22 Cleft Palate Congenital Heart Defects DiGeorge Syndrome Face Fatal Outcome Females Fluorescent in Situ Hybridization Follow-Up Studies Homo sapiens Hypocalcemia Infant, Newborn Male Neural Crest Phenotype Sequence Deletion Syndrome Thymus Gland | ||
19 (27.8%) |
24865822 |
Splenic hamartomas in Alagille syndrome: case report and literature review. James AW, Nguyen A, Said J, Genshaft S, Lassman CR, Teitell M. Fetal Pediatr Pathol. 2014;33(4):216-25. |
Splenomegaly | ||
CD8A JAG1 | ||
Alagille Syndrome Calcium-Binding Proteins Females Hamartoma Homo sapiens Intercellular Signaling Peptides and Proteins Jagged-1 Protein Membrane Proteins Mutation Pathologic Neovascularization Receptors, Notch Serrate-Jagged Proteins Signal Transduction Splenic Diseases | ||
19 (27.8%) |
9198297 |
Cockayne syndrome with tetralogy of Fallot: a case report. Choong CS, Liew KL, Huang YF, Chiu PC, Hsieh KS. Zhonghua Yi Xue Za Zhi (Taipei). 1997;59(3):199-203. |
Microcephaly Splenomegaly | ||
Child, Preschool Cockayne Syndrome Hepatomegaly Homo sapiens Male Pneumonia Splenomegaly Tetralogy of Fallot |
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 |