| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (73.7%) |
23342975 (3576294) |
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. Jamsheer A, Sowinska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bielenska A. BMC Med Genet. 2013;14:13. |
| Long philtrum Micrognathia Absent thumb | ||
| FGFR4 MSX2 SALL4 TBX5 | ||
| Child Chromosomes, Human, Pair 5 Congenital Heart Defects Cri-du-Chat Syndrome Dwarfism Face Homo sapiens Male Trisomy | ||
| 2 (57.8%) |
18947004 |
Trisomy 18 syndrome with incomplete Cantrell syndrome. Hou YJ, Chen FL, Ng YY, Hu JM, Chen SJ, Chen JY, Su PH. Pediatr Neonatol. 2008;49(3):84-7. |
| Micrognathia | ||
| Adult Chromosomes, Human, Pair 18 Congenital Heart Defects Homo sapiens Male Respiratory Diaphragm Sternum Syndrome Trisomy | ||
| 2 (57.8%) |
6809915 |
Severe congenital hypoglossia and micrognathia with other multiple birth defects. Oulis CJ, Thornton JB. J Oral Pathol. 1982;11(4):276-82. |
| Micrognathia | ||
| Dental Enamel Homo sapiens Infant Male Micrognathism Tongue | ||
| 4 (57.3%) |
1227520 |
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. Temtamy SA, Shoukry AS, Raafat M, Mihareb S. Birth Defects Orig Artic Ser. 1975;11(2):104-8. |
| Blepharophimosis Arachnodactyly Kyphoscoliosis | ||
| Child, Preschool Contracture Genes, Recessive Growth Disorders Homo sapiens Intellectual Disability Male Myopathy Phenotype Syndrome | ||
| 5 (54.1%) |
2839896 |
[Hereditary Poland syndrome with megacalycosis of the right kidney]. Briner V, Thiel G. Schweiz Med Wochenschr. 1988;118(23):898-903. |
| Short forearm | ||
| Adult Breast Females Homo sapiens Male Poland Syndrome Syndactyly Urography | ||
| 6 (51.6%) |
21812358 |
[The "heart-hand" syndrome in a 8-year-old-boy with short stature]. Petriczko E, Horodnicka-Jozwa A, Prowans P, Biczysko-Mokosa A, Szmit-Domagalska J, Dawid G, Walczak M, Zajaczek S. Wiad Lek. 2011;64(1):15-21. |
| Triphalangeal thumb Short distal phalanx of the thumb | ||
| Atrial Septal Defects Child Child, Preschool Congenital Heart Defects Homo sapiens Lower Extremity Deformities, Congenital Male Upper Extremity Deformities, Congenital | ||
| 7 (45.7%) |
18049082 |
Rhizomelia with anal atresia and anophthalmia: a new syndrome? Ozlem G, Elcin B, Ayfer U, Oguz A, Erdener O, Derya E. Clin Dysmorphol. 2008;17(1):53-6. |
| Anophthalmia Rhizomelia | ||
| Anophthalmos Anus, Imperforate Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Syndrome | ||
| 8 (44.0%) |
14564222 |
A case of dextrocardia, radial ray malformation and renal anomaly. Nallegowda M, Singh U, Shivananda , Shukla R, Kabra M. Clin Dysmorphol. 2003;12(4):285-6. |
| Hypospadias Scoliosis Radial club hand | ||
| Child Dextrocardia Fanconi Anemia Homo sapiens Kidney Male | ||
| 9 (42.2%) |
19102079 |
[Recurrent respiratory infections with severely damaged lung functions--Kartagener's syndrome--case report]. Cekerevac I, Jakovljevic V, Novkovic L, Radovanovic D, Lazic Z. Med Pregl. 2008;61(5-6):295-8. |
| Recurrent upper respiratory tract infections Recurrent sinusitis | ||
| Adult Females Homo sapiens Kartagener Syndrome Lung Diseases, Obstructive Respiratory Function Tests Respiratory Tract Infections | ||
| 9 (42.2%) |
3224158 |
From Fernand Widal rhinitis syndrome and chronic sinusitis to total muco-ciliary disease. Mathe G, Abitol J. Biomed Pharmacother. 1988;42(8):489-92. |
| Chronic sinusitis Rhinitis | ||
| Homo sapiens Male Medicine Mucociliary Clearance Rhinitis Sinusitis Specialization Syndrome |
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001651 | Dextrocardia | Obligate (100%) |
| HP:0001627 | Abnormal heart morphology | Very frequent (99-80%) |
| HP:0003115 | Abnormal EKG | Very frequent (99-80%) |
| HP:0010872 | T-wave inversion | Very frequent (99-80%) |
| HP:0001696 | Situs inversus totalis | Frequent (79-30%) |
| HP:0011603 | Congenital malformation of the great arteries | Frequent (79-30%) |
| HP:0000069 | Abnormality of the ureter | Occasional (29-5%) |
| HP:0001743 | Abnormality of the spleen | Occasional (29-5%) |
| HP:0002101 | Abnormal lung lobation | Occasional (29-5%) |
| HP:0002566 | Intestinal malrotation | Occasional (29-5%) |
| HP:0004414 | Abnormality of the pulmonary artery | Occasional (29-5%) |
| HP:0011615 | Abnormal pulmonary situs morphology | Occasional (29-5%) |
| HP:0011620 | Abnormality of abdominal situs | Occasional (29-5%) |
| HP:0012210 | Abnormal renal morphology | Occasional (29-5%) |
| HP:0012243 | Abnormal reproductive system morphology | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Very rare (4-1%) |
| HP:0000384 | Preauricular skin tag | Very rare (4-1%) |
| HP:0000465 | Webbed neck | Very rare (4-1%) |
| HP:0000772 | Abnormality of the ribs | Very rare (4-1%) |
| HP:0001263 | Global developmental delay | Very rare (4-1%) |
| HP:0001374 | Congenital hip dislocation | Very rare (4-1%) |
| HP:0001760 | Abnormality of the foot | Very rare (4-1%) |
| HP:0002245 | Meckel diverticulum | Very rare (4-1%) |
| HP:0002594 | Pancreatic hypoplasia | Very rare (4-1%) |
| HP:0003006 | Neuroblastoma | Very rare (4-1%) |
| HP:0008771 | Aplasia/Hypoplasia of the ear | Very rare (4-1%) |
Total: 175
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001629 | Ventricular septal defect | 29 |
| HP:0002110 | Bronchiectasis | 22 |
| HP:0001658 | Myocardial infarction | 16 |
| HP:0000246 | Sinusitis | 10 |
| HP:0001746 | Asplenia | 10 |
| HP:0001750 | Single ventricle | 9 |
| HP:0001643 | Patent ductus arteriosus | 8 |
| HP:0005301 | Persistent left superior vena cava | 8 |
| HP:0011109 | Chronic sinusitis | 8 |
| HP:0100790 | Hernia | 8 |
| HP:0001649 | Tachycardia | 7 |
| HP:0001718 | Mitral stenosis | 7 |
| HP:0001748 | Polysplenia | 7 |
| HP:0005110 | Atrial fibrillation | 7 |
| HP:0000822 | Hypertension | 5 |
| HP:0001635 | Congestive heart failure | 5 |
| HP:0002650 | Scoliosis | 5 |
| HP:0005160 | Total anomalous pulmonary venous return | 5 |
| HP:0011565 | Common atrium | 5 |
| HP:0004757 | Paroxysmal atrial fibrillation | 4 |
| HP:0011537 | Left atrial isomerism | 4 |
| HP:0011704 | Sick sinus syndrome | 4 |
| HP:0030853 | Heterotaxy | 4 |
| HP:0031854 | Left Isomerism | 4 |
| HP:0100749 | Chest pain | 4 |
| HP:0001082 | Cholecystitis | 3 |
| HP:0001642 | Pulmonic stenosis | 3 |
| HP:0001667 | Right ventricular hypertrophy | 3 |
| HP:0001716 | Wolff-Parkinson-White syndrome | 3 |
| HP:0001962 | Palpitations | 3 |
| HP:0002023 | Anal atresia | 3 |
| HP:0002027 | Abdominal pain | 3 |
| HP:0002089 | Pulmonary hypoplasia | 3 |
| HP:0002098 | Respiratory distress | 3 |
| HP:0005180 | Tricuspid regurgitation | 3 |
| HP:0008633 | Agonadism | 3 |
| HP:0000086 | Ectopic kidney | 2 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000486 | Strabismus | 2 |
| HP:0000789 | Infertility | 2 |
| HP:0000824 | Growth hormone deficiency | 2 |
| HP:0000961 | Cyanosis | 2 |
| HP:0001640 | Cardiomegaly | 2 |
| HP:0001653 | Mitral regurgitation | 2 |
| HP:0001662 | Bradycardia | 2 |
| HP:0002094 | Dyspnea | 2 |
| HP:0002645 | Wormian bones | 2 |
| HP:0003298 | Spina bifida occulta | 2 |
| HP:0004415 | Pulmonary artery stenosis | 2 |
| HP:0004755 | Supraventricular tachycardia | 2 |
| HP:0004756 | Ventricular tachycardia | 2 |
| HP:0005162 | Left ventricular dysfunction | 2 |
| HP:0010301 | Spinal dysraphism | 2 |
| HP:0011675 | Arrhythmia | 2 |
| HP:0011712 | Right bundle branch block | 2 |
| HP:0012722 | Heart block | 2 |
| HP:0012735 | Cough | 2 |
| HP:0030731 | Carcinoma | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000452 | Choanal stenosis | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000767 | Pectus excavatum | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000836 | Hyperthyroidism | 1 |
| HP:0000891 | Cervical ribs | 1 |
| HP:0000892 | Bifid ribs | 1 |
| HP:0000952 | Jaundice | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001081 | Cholelithiasis | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001266 | Choreoathetosis | 1 |
| HP:0001279 | Syncope | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001349 | Facial diplegia | 1 |
| HP:0001537 | Umbilical hernia | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001650 | Aortic valve stenosis | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001680 | Coarctation of aorta | 1 |
| HP:0001688 | Sinus bradycardia | 1 |
| HP:0001698 | Pericardial effusion | 1 |
| HP:0001776 | Bilateral talipes equinovarus | 1 |
| HP:0001838 | Rocker bottom foot | 1 |
| HP:0001907 | Thromboembolism | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002018 | Nausea | 1 |
| HP:0002079 | Hypoplasia of the corpus callosum | 1 |
| HP:0002101 | Abnormal lung lobation | 1 |
| HP:0002107 | Pneumothorax | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0002204 | Pulmonary embolism | 1 |
| HP:0002205 | Recurrent respiratory infections | 1 |
| HP:0002410 | Aqueductal stenosis | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002435 | Meningocele | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002588 | Duodenal ulcer | 1 |
| HP:0002647 | Aortic dissection | 1 |
| HP:0002779 | Tracheomalacia | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0002937 | Hemivertebrae | 1 |
| HP:0003326 | Myalgia | 1 |
| HP:0003401 | Paresthesia | 1 |
| HP:0004059 | Radial club hand | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004469 | Chronic bronchitis | 1 |
| HP:0004763 | Paroxysmal supraventricular tachycardia | 1 |
| HP:0004952 | Pulmonary arteriovenous fistulas | 1 |
| HP:0005145 | Coronary artery stenosis | 1 |
| HP:0005815 | Supernumerary ribs | 1 |
| HP:0005857 | Cervical spina bifida | 1 |
| HP:0005912 | Biliary atresia | 1 |
| HP:0008110 | Equinovarus deformity | 1 |
| HP:0008439 | Lumbar hemivertebrae | 1 |
| HP:0008689 | Bilateral cryptorchidism | 1 |
| HP:0008905 | Rhizomelia | 1 |
| HP:0009800 | Maternal diabetes | 1 |
| HP:0010450 | Esophageal stenosis | 1 |
| HP:0010612 | Plantar pits | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0010882 | Pulmonary valve atresia | 1 |
| HP:0010960 | Bronchopulmonary sequestration | 1 |
| HP:0011278 | Intrapulmonary sequestration | 1 |
| HP:0011304 | Broad thumb | 1 |
| HP:0011458 | Abdominal symptom | 1 |
| HP:0011536 | Right atrial isomerism | 1 |
| HP:0011553 | Discordant atrioventricular connection | 1 |
| HP:0011611 | Interrupted aortic arch | 1 |
| HP:0011682 | Perimembranous ventricular septal defect | 1 |
| HP:0011706 | Second degree atrioventricular block | 1 |
| HP:0011713 | Left bundle branch block | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0012032 | Lipoma | 1 |
| HP:0012251 | ST segment elevation | 1 |
| HP:0012383 | Bidirectional shunt | 1 |
| HP:0012384 | Rhinitis | 1 |
| HP:0012387 | Bronchitis | 1 |
| HP:0012430 | Cerebral white matter hypoplasia | 1 |
| HP:0012730 | Aglossia | 1 |
| HP:0012854 | Midshaft hypospadias | 1 |
| HP:0025169 | Left ventricular systolic dysfunction | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0025406 | Asthenia | 1 |
| HP:0025615 | Abscess | 1 |
| HP:0030049 | Brain abscess | 1 |
| HP:0030148 | Heart murmur | 1 |
| HP:0031245 | Productive cough | 1 |
| HP:0031500 | Abdominal mass | 1 |
| HP:0031603 | Impaired nasal mucociliary clearance | 1 |
| HP:0031625 | Pseudoaneurysm | 1 |
| HP:0031671 | Typical atrial flutter | 1 |
| HP:0031673 | Orthodromic atrioventricular reentrant tachycardia | 1 |
| HP:0031678 | Atherosclerotic lesion | 1 |
| HP:0031834 | Aortopulmonary collateral arteries | 1 |
| HP:0031853 | Isomerism | 1 |
| HP:0031855 | Right isomerism | 1 |
| HP:0032092 | Left ventricular outflow tract obstruction | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
| HP:0100548 | Exstrophy | 1 |
| HP:0100584 | Endocarditis | 1 |
| HP:0100632 | Pulmonary sequestration | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|