| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (67.6%) |
22611642 |
Faciocardiorenal syndrome: a wide clinical spectrum? Brambila Tapia AJ, Vasquez Velasque AI, Gonzalez Mercado MG, Macias Chumacera A, Gutierrez-Amavizca BE, Lara Aguilar RA, Perez Juarez CR, Moreno Andrade A, Figuera LE. Genet Couns. 2012;23(1):51-6. |
| Microretrognathia Long philtrum Adducted thumb Metaphyseal widening | ||
| Cleft Palate Congenital Heart Defects Endocardial Fibroelastosis Face Homo sapiens Infant Kidney Male | ||
| 2 (60.4%) |
16523519 |
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity. Martinet D, Vial Y, Thonney F, Beckmann JS, Meagher-Villemure K, Unger S. Am J Med Genet A. 2006;140(7):769-74. |
| Pierre-Robin sequence Micrognathia | ||
| Abortion, Eugenic Chromosome Banding Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 20 Face Females Fetal Death Fluorescent in Situ Hybridization Homo sapiens Male Micrognathism | ||
| 3 (57.8%) |
15768861 |
Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbs. Wada DA, Szakacs J, Kennedy AM, Hafen BL, Opitz JM, Byrne JL. Fetal Pediatr Pathol. 2004;23(2-3):159-70. |
| Micrognathia | ||
| Adult Calcinosis Cardiomyopathies Females Genes, Recessive Gestational Age Homo sapiens Polynesia Pregnancy | ||
| 4 (39.0%) |
6105824 |
Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly. Jennings MT, Hall JG, Kukolich M. Am J Med Genet. 1980;5(3):271-6. |
| Macrocephaly | ||
| Cryptorchidism Endocardial Fibroelastosis Face Head Homo sapiens Infant Infant, Newborn Intellectual Disability Male | ||
| 4 (39.0%) |
1488976 |
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Frydman M, Etzioni A, Eidlitz-Markus T, Avidor I, Varsano I, Shechter Y, Orlin JB, Gershoni-Baruch R. Am J Med Genet. 1992;44(3):297-302. |
| Microcephaly | ||
| Child, Preschool Dwarfism Homo sapiens Infant, Newborn Male Microcephaly Psychomotor Disorders Syndrome | ||
| 6 (32.2%) |
9185226 |
Autopsy findings in the Wolcott-Rallison syndrome. Thornton CM, Carson DJ, Stewart FJ. Pediatr Pathol Lab Med. 1997;17(3):487-96. |
| Diabetes mellitus Epiphyseal dysplasia | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 15 Diabetes Mellitus, Insulin-Dependent Females Genes, Recessive Homo sapiens Liver Failure, Acute Mitral Valve Stenosis Osteochondrodysplasias Pancreas Syndrome | ||
| 7 (31.0%) |
2248295 |
Ulnar agenesis and endocardial fibroelastosis. Marles SL, Chudley AE. Am J Med Genet. 1990;37(2):258-60. |
| Oligodactyly | ||
| Endocardial Fibroelastosis Fingers Homo sapiens Male Syndrome Toes | ||
| 8 (20.4%) |
6893536 |
Idiopathic arterial calcification in infancy. Report of a case in a premature fetus. Liu CT, Singer DB, Frates R. Arch Pathol Lab Med. 1980;104(11):589-91. |
| Arterial calcification | ||
| Arteries Calcinosis Females Fetal Death Homo sapiens Male Myocardium Pregnancy | ||
| 9 (17.5%) |
20165845 |
Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) presenting as a complete heart block. Math RS, Parakh N, Sarin SS, Tyagi S. Pediatr Cardiol. 2010;31(4):526-9. |
| Myocardial infarction Scarring | ||
| Calcinosis Cardiomyopathies Coronary Vessel Anomalies Echocardiography Endocardial Fibroelastosis Endocardium Heart Block Heart Septum Homo sapiens Male Middle Aged Video Recording | ||
| 9 (17.5%) |
12536036 |
Centronuclear myopathy and cardiomyopathy requiring heart transplant. Al-Ruwaishid A, Vajsar J, Tein I, Benson L, Jay V. Brain Dev. 2003;25(1):62-6. |
| Cardiomyopathy Myopathy | ||
| Cardiomyopathies Child, Preschool Congenital Structural Myopathy Females Heart Transplantation Homo sapiens Myocardium |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000174 | Abnormal palate morphology | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0001635 | Congestive heart failure | Very frequent (99-80%) |
| HP:0001723 | Restrictive cardiomyopathy | Very frequent (99-80%) |
| HP:0001852 | Sandal gap | Very frequent (99-80%) |
| HP:0001943 | Hypoglycemia | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0011039 | Abnormality of the helix | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000830 | Anterior hypopituitarism | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0001706 | Endocardial fibroelastosis | Occasional (29-5%) |
Total: 44
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001638 | Cardiomyopathy | 11 |
| HP:0001650 | Aortic valve stenosis | 4 |
| HP:0002617 | Dilatation | 4 |
| HP:0000822 | Hypertension | 3 |
| HP:0001635 | Congestive heart failure | 3 |
| HP:0001718 | Mitral stenosis | 3 |
| HP:0012722 | Heart block | 3 |
| HP:0001678 | Atrioventricular block | 2 |
| HP:0005110 | Atrial fibrillation | 2 |
| HP:0005162 | Left ventricular dysfunction | 2 |
| HP:0005180 | Tricuspid regurgitation | 2 |
| HP:0012165 | Oligodactyly | 2 |
| HP:0100570 | Carcinoid tumor | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000201 | Pierre-Robin sequence | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000308 | Microretrognathia | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001640 | Cardiomegaly | 1 |
| HP:0001653 | Mitral regurgitation | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001688 | Sinus bradycardia | 1 |
| HP:0001712 | Left ventricular hypertrophy | 1 |
| HP:0001907 | Thromboembolism | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0004756 | Ventricular tachycardia | 1 |
| HP:0005143 | Anomalous origin of right pulmonary artery from ascending aorta | 1 |
| HP:0005164 | Dysplastic pulmonary valve | 1 |
| HP:0006671 | Paroxysmal atrial tachycardia | 1 |
| HP:0006685 | Endocardial fibrosis | 1 |
| HP:0006690 | Myocardial calcification | 1 |
| HP:0009730 | Rhabdomyoma | 1 |
| HP:0011623 | Muscular ventricular septal defect | 1 |
| HP:0011675 | Arrhythmia | 1 |
| HP:0011950 | Bronchiolitis | 1 |
| HP:0032092 | Left ventricular outflow tract obstruction | 1 |
| HP:0100242 | Sarcoma | 1 |
| HP:0100545 | Arterial stenosis | 1 |
| HP:0100584 | Endocarditis | 1 |
| HP:0100699 | Scarring | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|