| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.8%) |
23072190 |
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay. Chen CP, Lin SP, Chen MR, Su YN, Chern SR, Liu YP, Su JW, Lee MS, Wang W. Genet Couns. 2012;23(3):405-13. |
| Brachycephaly Oval face Long philtrum Clinodactyly of the thumb | ||
| CHL1 CNTN4 MSX2 NKX2-5 NSD1 | ||
| Chromosome Deletion Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 5 Congenital Heart Defects Cri-du-Chat Syndrome Developmental Disabilities Dwarfism Females Homo sapiens In Situ Hybridization Infant Microcephaly Trisomy | ||
| 2 (57.8%) |
15508879 |
49, XXXXY syndrome. Hou JW. Chang Gung Med J. 2004;27(7):551-4. |
| Microcephaly Micrognathia | ||
| Chromosomes, Human, X Congenital Hand Deformities Congenital Heart Defects Face Fluorescent in Situ Hybridization Homo sapiens Infant Klinefelter Syndrome Male Microcephaly Sex Chromosome Disorders Syndrome | ||
| 3 (42.2%) |
24267135 |
[Keutel syndrome with tracheal stenosis as the major symptom: case report and literature review]. Sun LF, Ju YF, Fu GJ, Wang JR, Feng YZ, Chen X. Zhonghua Er Ke Za Zhi. 2013;51(7):527-30. |
| Sinusitis Depressed nasal bridge | ||
| Bone and Bones Calcinosis Cartilage Cartilage Diseases Congenital Hand Deformities Differential Diagnosis Homo sapiens Infant Male Pulmonary Valve Stenosis Radiography, Thoracic Retrospective Studies Tracheal Stenosis X-Ray Computed Tomography | ||
| 4 (41.0%) |
8256808 |
Williams-Beuren syndrome in monozygotic twins with variable expression. Pankau R, Gosch A, Simeoni E, Wessel A. Am J Med Genet. 1993;47(4):475-7. |
| Inguinal hernia Cleft lip | ||
| Adult Aortic Valve Stenosis Child, Preschool DNA Fingerprinting Diseases in Twins Face Females Homo sapiens Infant, Newborn Kidney Syndrome | ||
| 5 (26.3%) |
26071298 |
Myriad manifestations of Williams syndrome. Bagul PK, Borgaonkar DV, Jaiswal V, Phadke MS, Lanjewar CP, Kerkar PG. Indian Heart J. 2015;67(2):156-8. |
| Cardiomyopathy Elfin facies | ||
| ELN | ||
| Differential Diagnosis Echocardiography, Doppler Homo sapiens Imaging, Three-Dimensional Infant Male Pulmonary Valve Stenosis Williams Syndrome X-Ray Computed Tomography | ||
| 5 (26.3%) |
22611639 |
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. Demirel G, Oguz SS, Celik IH, Erdeve O, Uras N, Dilmen U. Genet Couns. 2012;23(1):25-30. |
| Respiratory insufficiency Short nose | ||
| Calcinosis Cartilage Diseases Chondrodysplasia Punctata Congenital Hand Deformities Differential Diagnosis Fatal Outcome Homo sapiens Infant, Newborn Maxilla Maxillofacial Abnormalities Nose Pulmonary Valve Stenosis | ||
| 7 (21.2%) |
6468443 |
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. Fryns JP, van Fleteren A, Mattelaer P, van den Berghe H. Eur J Pediatr. 1984;142(3):201-3. |
| Calcification of cartilage | ||
| Calcinosis Cartilage Diseases Females Fingers Homo sapiens Intellectual Disability Pulmonary Valve Stenosis Syndrome | ||
| 8 (20.4%) |
27906097 (5134282) |
A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report. Pati GK, Singh A, Nath P, Narayan J, Padhi PK, Parida PK, Pattnaik K, Panda C, Singh SP. J Med Case Rep. 2016;10(1):342. |
| Posterior embryotoxon Recurrent fractures | ||
| Alagille Syndrome Child Differential Diagnosis Fatal Outcome Homo sapiens India Male | ||
| 9 (17.5%) |
25487726 |
A new patient with LACHT syndrome (Mardini-Nyhan association). Atik T, Torun HO, Cogulu O, Ozkinay F. Am J Med Genet A. 2015;167A(2):400-2. |
| Inguinal hernia | ||
| Facies Females Homo sapiens Infant Phenotype Radiography, Thoracic Syndrome | ||
| 9 (17.5%) |
23932425 |
Palliative balloon angioplasty in a cat with right pulmonary arterial branch stenoses and concurrent absence of the left pulmonary artery. McDevitt H, Stauthammer C, Leeder D, Hanson M, Olson J, Gruenstein D. J Vet Cardiol. 2013;15(3):211-6. |
| Respiratory distress Exercise intolerance | ||
| Angioplasty, Balloon, Coronary Animals Cat Diseases Felis catus Male Palliative Care Stenosis |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 28
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000822 | Hypertension | 4 |
| HP:0001643 | Patent ductus arteriosus | 4 |
| HP:0000627 | Posterior embryotoxon | 3 |
| HP:0000023 | Inguinal hernia | 2 |
| HP:0000316 | Hypertelorism | 2 |
| HP:0000248 | Brachycephaly | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000300 | Oval face | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000388 | Otitis media | 1 |
| HP:0000961 | Cyanosis | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0003072 | Hypercalcemia | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005133 | Right ventricular dilatation | 1 |
| HP:0005160 | Total anomalous pulmonary venous return | 1 |
| HP:0005164 | Dysplastic pulmonary valve | 1 |
| HP:0005180 | Tricuspid regurgitation | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0009792 | Teratoma | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030707 | Unilateral lung agenesis | 1 |
| HP:0040023 | Clinodactyly of the thumb | 1 |
| HP:0100593 | Calcification of cartilage | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|