| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (74.2%) |
8588849 |
Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents. Stoll C, Alembik Y, Dott B. Genet Couns. 1995;6(3):217-20. |
| Short philtrum Short finger | ||
| Adrenal Gland Neoplasms Adult Congenital Heart Defects Females Homo sapiens Intellectual Disability Microcephaly Neurofibromatosis 1 Phenotype Pheochromocytoma | ||
| 2 (63.4%) |
17935231 |
Trisomy 9 mosaicism and XX sex reversal. Solomon BD, Turner CE, Klugman D, Sparks SE. Am J Med Genet A. 2007;143A(22):2688-91. |
| Micrognathia Overlapping fingers | ||
| Adult Chromosomes, Human, Pair 9 Cytogenetic Analysis Disorders of Sex Development Females Homo sapiens Infant, Newborn Male Mosaicism Pregnancy Trisomy | ||
| 3 (59.0%) |
6974525 |
Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome. Yu CW, Chen H, Baucum RW, Hand AM. Ann Genet. 1981;24(3):158-61. |
| Micrognathia Short nasal septum | ||
| Chromosome Deletion Chromosomes, Human, 4-5 Females Homo sapiens Infant, Newborn Male | ||
| 4 (50.2%) |
28761211 (5523052) |
Holt-Oram Syndrome: A Rare Variant. Shankar B, Bhutia E, Kumar D, Kishore S, Das SP. Iran J Med Sci. 2017;42(4):416-419. |
| Stroke Absent radius | ||
| 5 (43.6%) |
7064106 |
Unusual cardiac malformations in splenogonadal fusion-peromelia syndrome: relationship to normal development. Loomis KF, Moore GW, Hutchins GM. Teratology. 1982;25(1):1-9. |
| Peromelia | ||
| Congenital Heart Defects Gestational Age Heart Heart Septal Defects Heart Valves Heart Ventricle Homo sapiens Infant, Newborn Male Spleen Testis | ||
| 6 (43.2%) |
23732355 |
[Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome]. Gonzales Portillo SN, Conde Sumire R, Gamio Vega Centeno F, Hernandez-Cordova G, Romani Romani F. Arch Argent Pediatr. 2013;111(3):e58-61. |
| Short ribs | ||
| Ellis-Van Creveld Syndrome Endocardial Cushion Defects Heart Atrium Heart Septal Defects Homo sapiens Infant Male Tricuspid Atresia | ||
| 7 (39.0%) |
9680279 |
Sternal defects associated with congenital pericardial and cardiac defects. Cottrill CM, Tamaren J, Hall B. Cardiol Young. 1998;8(1):100-4. |
| Encephalocele | ||
| Congenital Heart Defects Differential Diagnosis Females Homo sapiens Infant, Newborn Sternum | ||
| 8 (23.3%) |
28320993 |
Intractable Back Pain After Coil Embolization of Giant Veno-Venous Collaterals in a Patient With Fontan Circulation. Okada S, Kamada M, Nakagawa N, Ishiguchi Y, Moritoh Y, Shohi M, Okamoto K, Hasegawa S, Ohga S. Int Heart J. 2017;58(2):298-301. |
| Back pain | ||
| Adult Analgesics, Non-Narcotic Back Pain Embolization, Therapeutic Females Fontan Procedure Homo sapiens Pain, Intractable | ||
| 9 (21.2%) |
8560056 |
[Patient with tricuspid atresia undergoing orthopedic surgery: anesthetic considerations]. Vidal Marcos A, Porras Carrasco I, Espinosa Dominguez E, Reboso Morales JA, Soriano Vela E, Gonzalez Miranda F. Rev Esp Anestesiol Reanim. 1995;42(8):336-40. |
| Rheumatoid arthritis | ||
| Accidental Falls Anesthesia, Inhalation Anesthesia, Intravenous Blood Volume Females Hip Fractures Homo sapiens Middle Aged Postoperative Complications Pulmonary Circulation Pulmonary Valve Stenosis Rheumatoid Arthritis Thromboembolism Tricuspid Atresia | ||
| 10 (20.4%) |
24584210 |
Two cases of warfarin-induced tracheobronchial calcification after Fontan surgery. Eckersley L, Stirling J, Occleshaw C, Wilson N. Pediatr Cardiol. 2014;35(6):954-8. |
| Vascular calcification | ||
| Anticoagulants Bronchi Calcinosis Child Child, Preschool Congenital Heart Defects Females Fontan Procedure Homo sapiens Male Postoperative Period Time Trachea X-Ray Computed Tomography |
Total: 10
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0011662 | Tricuspid atresia | Obligate (100%) |
| HP:0000961 | Cyanosis | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0001655 | Patent foramen ovale | Frequent (79-30%) |
| HP:0001669 | Transposition of the great arteries | Frequent (79-30%) |
| HP:0004762 | Hypoplasia of right ventricle | Frequent (79-30%) |
| HP:0005301 | Persistent left superior vena cava | Frequent (79-30%) |
| HP:0001680 | Coarctation of aorta | Occasional (29-5%) |
| HP:0004935 | Pulmonary artery atresia | Occasional (29-5%) |
Total: 80
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001629 | Ventricular septal defect | 28 |
| HP:0001750 | Single ventricle | 15 |
| HP:0001643 | Patent ductus arteriosus | 9 |
| HP:0000961 | Cyanosis | 6 |
| HP:0010446 | Tricuspid stenosis | 5 |
| HP:0000822 | Hypertension | 4 |
| HP:0001649 | Tachycardia | 4 |
| HP:0005301 | Persistent left superior vena cava | 4 |
| HP:0002617 | Dilatation | 3 |
| HP:0004755 | Supraventricular tachycardia | 3 |
| HP:0011604 | Aortopulmonary window | 3 |
| HP:0001394 | Cirrhosis | 2 |
| HP:0001642 | Pulmonic stenosis | 2 |
| HP:0001658 | Myocardial infarction | 2 |
| HP:0001678 | Atrioventricular block | 2 |
| HP:0001694 | Right-to-left shunt | 2 |
| HP:0001962 | Palpitations | 2 |
| HP:0002202 | Pleural effusion | 2 |
| HP:0002243 | Protein-losing enteropathy | 2 |
| HP:0003546 | Exercise intolerance | 2 |
| HP:0004415 | Pulmonary artery stenosis | 2 |
| HP:0005134 | Absence of the pulmonary valve | 2 |
| HP:0005160 | Total anomalous pulmonary venous return | 2 |
| HP:0010954 | Hypoplastic right heart | 2 |
| HP:0011536 | Right atrial isomerism | 2 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000420 | Short nasal septum | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000960 | Sacral dimple | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001279 | Syncope | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0001635 | Congestive heart failure | 1 |
| HP:0001647 | Bicuspid aortic valve | 1 |
| HP:0001692 | Atrial arrhythmia | 1 |
| HP:0001708 | Right ventricular failure | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002204 | Pulmonary embolism | 1 |
| HP:0002575 | Tracheoesophageal fistula | 1 |
| HP:0002623 | Overriding aorta | 1 |
| HP:0002666 | Pheochromocytoma | 1 |
| HP:0004757 | Paroxysmal atrial fibrillation | 1 |
| HP:0004890 | Elevated pulmonary artery pressure | 1 |
| HP:0004927 | Pulmonary artery dilatation | 1 |
| HP:0004935 | Pulmonary artery atresia | 1 |
| HP:0005110 | Atrial fibrillation | 1 |
| HP:0005144 | Ventricular septal hypertrophy | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0009729 | Cardiac rhabdomyoma | 1 |
| HP:0010310 | Chylothorax | 1 |
| HP:0010775 | Vascular ring | 1 |
| HP:0011537 | Left atrial isomerism | 1 |
| HP:0011553 | Discordant atrioventricular connection | 1 |
| HP:0011554 | Double inlet atrioventricular connection | 1 |
| HP:0011611 | Interrupted aortic arch | 1 |
| HP:0011683 | Restrictive ventricular septal defect | 1 |
| HP:0011684 | Non-restrictive ventricular septal defect | 1 |
| HP:0011717 | Atrioventricular reentrant tachycardia | 1 |
| HP:0012304 | Hypoplastic aortic arch | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0012393 | Allergy | 1 |
| HP:0012418 | Hypoxemia | 1 |
| HP:0012722 | Heart block | 1 |
| HP:0030149 | Cardiogenic shock | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0031625 | Pseudoaneurysm | 1 |
| HP:0031853 | Isomerism | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100545 | Arterial stenosis | 1 |
| HP:0100584 | Endocarditis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|