| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (29.3%) |
8368068 |
Persistent truncus arteriosus associated with interrupted aortic arch: report of two cases. Chiou YY, Wu JM, Wang JK, Wu MH, Ke WL, Yang YJ. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993;34(3):204-10. |
| Cyanosis Hypocalcemia Poor appetite | ||
| Echocardiography Homo sapiens Infant, Newborn Male Truncus Arteriosus, Persistent | ||
| 2 (27.5%) |
15565585 |
Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis. Suwanrath-Kengpol C, Limprasert P, Mitarnun W. Prenat Diagn. 2004;24(11):887-9. |
| Hydronephrosis Edema Ascites | ||
| Adult Chromosomes, Human, Pair 6 Differential Diagnosis Females Homo sapiens Hydrops Fetalis Pregnancy Pregnancy Trimester, Second Ultrasonography | ||
| 3 (27.2%) |
28267085 |
Hemolytic Anemia due to Right Ventricular to Pulmonary Artery Conduit Stenosis. Rao S, Creaden JA, Gong S, Rigsby C, Costello JM. J Pediatr Hematol Oncol. 2017;39(5):e290-e292. |
| Hemolytic anemia | ||
| Anemia, Hemolytic Cardiovascular Surgical Procedures Child, Preschool Congenital Heart Defects Females Heart Ventricle Homo sapiens Stenosis | ||
| 4 (26.7%) |
9986897 |
Acute inferior cardiac inflow obstruction resulting from inadvertent surgical closure of a prominent Eustachian valve mistaken for an atrial septal defect. Becker A, Buss M, Sebening W, Meisner H, Dohlemann C. Pediatr Cardiol. 1999;20(2):155-7. |
| Right-to-left shunt Hepatomegaly | ||
| Atrial Septal Defects Heart Atrium Homo sapiens Iatrogenic Disease Infant Male Postoperative Complications Repeat Surgery Syndrome | ||
| 5 (26.7%) |
2624793 |
Aspergillus ball thrombus occluding a homograft conduit. Bhatnagar NK, Dhasmana JP, Russell GA, Jordan SC. Eur J Cardiothorac Surg. 1989;3(3):270-2. |
| Thrombocytopenia Fever Hypertensive crisis | ||
| Aspergillosis Blood Vessel Prosthesis Endocarditis Females Graft Occlusion, Vascular Homo sapiens Infant, Newborn Transplantation, Homologous Truncus Arteriosus, Persistent | ||
| 6 (26.6%) |
24357125 |
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan SE, McKee S, Tzschach A. Am J Med Genet A. 2014;164A(3):620-6. |
| Cryptorchidism Intestinal malrotation Macrothrombocytopenia | ||
| ACTN1 ADAM21 ADAM21P1 CCDC177 COX16 DCAF5 ERH EXD2 GALNT16 PLEKHD1 SLC10A1 SLC39A9 SLC8A3 SMOC1 SRSF5 SUSD6 SYNJ2BP SYNJ2BP-COX16 | ||
| Brachydactyly Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 14 Congenital Heart Defects Facies Females Homo sapiens Infant Intellectual Disability Male Phenotype | ||
| 6 (26.6%) |
3260743 |
Dieulafoy's lesion associated with truncus arteriosus type IV: an unusual cause of upper gastrointestinal hemorrhage. de Virgilio C, Dubrow TJ, Robertson JM, Wackym PA, Pelikan PC, Cobb S, Williams RA. Am J Gastroenterol. 1988;83(8):865-7. |
| Gastrointestinal hemorrhage | ||
| Arteries Gastrointestinal Hemorrhage Homo sapiens Male Stomach Stomach Diseases Truncus Arteriosus, Persistent | ||
| 8 (25.2%) |
11146459 |
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Am J Med Genet. 2000;95(5):415-24. |
| Cystic hygroma Asplenia | ||
| Adult Females Fetal Diseases Genes, Recessive Homo sapiens Hydrops Fetalis Infant, Newborn Limb Deformities, Congenital Lymphangioma, Cystic Male Phenotype Pregnancy Respiratory Diaphragm Syndrome Ultrasonography, Prenatal | ||
| 8 (25.2%) |
8693496 |
Polysplenia syndrome with common atrioventricular canal and persistent truncus arteriosus. Arai H, Harada K, Tamura M, Okamura T, Takada G. Tohoku J Exp Med. 1995;177(2):171-7. |
| Polysplenia | ||
| Congenital Heart Defects Echocardiography Endocardial Cushion Defects Homo sapiens Infant, Newborn Male Spleen Syndrome Truncus Arteriosus, Persistent | ||
| 8 (25.2%) |
2063901 |
DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction. el-Fouly MH, Higgins JV, Kapur S, Sankey BJ, Matisoff DN, Costa-Fox M. Am J Med Genet. 1991;38(4):569-73. |
| Thin upper lip vermilion Accessory spleen | ||
| Chromosome Deletion Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 9 Congenital Heart Defects DiGeorge Syndrome Females Homo sapiens Infant, Newborn |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 101
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0011611 | Interrupted aortic arch | 30 |
| HP:0001629 | Ventricular septal defect | 28 |
| HP:0011604 | Aortopulmonary window | 8 |
| HP:0001643 | Patent ductus arteriosus | 7 |
| HP:0000822 | Hypertension | 6 |
| HP:0001635 | Congestive heart failure | 6 |
| HP:0001750 | Single ventricle | 6 |
| HP:0002901 | Hypocalcemia | 6 |
| HP:0004415 | Pulmonary artery stenosis | 6 |
| HP:0011590 | Double aortic arch | 6 |
| HP:0100584 | Endocarditis | 5 |
| HP:0002098 | Respiratory distress | 4 |
| HP:0002617 | Dilatation | 4 |
| HP:0011613 | Interrupted aortic arch type B | 4 |
| HP:0000316 | Hypertelorism | 3 |
| HP:0000961 | Cyanosis | 3 |
| HP:0001710 | Conotruncal defect | 3 |
| HP:0000126 | Hydronephrosis | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000819 | Diabetes mellitus | 2 |
| HP:0000860 | Parathyroid hypoplasia | 2 |
| HP:0001510 | Growth delay | 2 |
| HP:0001655 | Patent foramen ovale | 2 |
| HP:0001667 | Right ventricular hypertrophy | 2 |
| HP:0001746 | Asplenia | 2 |
| HP:0002721 | Immunodeficiency | 2 |
| HP:0005160 | Total anomalous pulmonary venous return | 2 |
| HP:0005301 | Persistent left superior vena cava | 2 |
| HP:0011467 | Absent gallbladder | 2 |
| HP:0031625 | Pseudoaneurysm | 2 |
| HP:0031834 | Aortopulmonary collateral arteries | 2 |
| HP:0100790 | Hernia | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000054 | Micropenis | 1 |
| HP:0000086 | Ectopic kidney | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001518 | Small for gestational age | 1 |
| HP:0001634 | Mitral valve prolapse | 1 |
| HP:0001647 | Bicuspid aortic valve | 1 |
| HP:0001650 | Aortic valve stenosis | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001680 | Coarctation of aorta | 1 |
| HP:0001694 | Right-to-left shunt | 1 |
| HP:0001708 | Right ventricular failure | 1 |
| HP:0001718 | Mitral stenosis | 1 |
| HP:0001748 | Polysplenia | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002239 | Gastrointestinal hemorrhage | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002615 | Hypotension | 1 |
| HP:0002623 | Overriding aorta | 1 |
| HP:0002637 | Cerebral ischemia | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002791 | Hypoventilation | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004383 | Hypoplastic left heart | 1 |
| HP:0004961 | Pulmonary artery sling | 1 |
| HP:0005162 | Left ventricular dysfunction | 1 |
| HP:0005765 | Sacral meningocele | 1 |
| HP:0006210 | Postaxial oligodactyly | 1 |
| HP:0008905 | Rhizomelia | 1 |
| HP:0009776 | Adactyly | 1 |
| HP:0009800 | Maternal diabetes | 1 |
| HP:0010446 | Tricuspid stenosis | 1 |
| HP:0010772 | Anomalous pulmonary venous return | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0010954 | Hypoplastic right heart | 1 |
| HP:0011537 | Left atrial isomerism | 1 |
| HP:0011573 | Hypoplastic tricuspid valve | 1 |
| HP:0011612 | Interrupted aortic arch type A | 1 |
| HP:0011623 | Muscular ventricular septal defect | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0012304 | Hypoplastic aortic arch | 1 |
| HP:0012721 | Venous malformation | 1 |
| HP:0025615 | Abscess | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0030882 | Coronary artery aneurysm | 1 |
| HP:0031649 | Aortic rupture | 1 |
| HP:0031655 | Quadricuspid aortic valve | 1 |
| HP:0031853 | Isomerism | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0100336 | Bilateral cleft lip | 1 |
| HP:0100735 | Hypertensive crisis | 1 |
| HP:0100749 | Chest pain | 1 |
| HP:0100841 | Microgastria | 1 |
| HP:0410030 | Cleft lip | 1 |