Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... |
OMIM:158320 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... |
ORPHA:157794 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Colon cancer, Re... |
OMIM:174900 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... |
ORPHA:3092 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... |
ORPHA:2041 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... |
ORPHA:85451 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... |
OMIM:115197 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... |
ORPHA:615 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... |
ORPHA:860 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of the colon, Appendiceal mucinous neoplas... |
ORPHA:100079 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... |
OMIM:300257 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Ne... |
ORPHA:424016 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Third heart sound, Left ventricular diastolic dysfunction... |
ORPHA:57777 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... |
ORPHA:1677 |
Naxos Disease |
|
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Cardiomyopathy, Cardi... |
OMIM:261740 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neurofibromas, Dysphagia, Gastrointestinal stroma tumor |
OMIM:606764 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiomegaly, Congestive h... |
OMIM:212140 |
Paragangliomas 4 |
|
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... |
OMIM:115310 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... |
OMIM:618652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... |
ORPHA:324410 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, Gastrointestinal... |
ORPHA:97286 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... |
OMIM:235200 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Adenocarcinoma of the large intestine, Hepatocellular carcinoma, Ulcerative c... |
ORPHA:171 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:256550 |
Blackfan-Diamond Anemia |
|
High palate, Malignant genitourinary tract tumor, Adenocarcinoma of the colon, Myelodysplasia, Os... |
ORPHA:124 |
Turcot Syndrome With Polyposis |
|
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... |
ORPHA:99818 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... |
OMIM:620066 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly |
ORPHA:99931 |
Familial Aortic Dissection |
|
Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly |
ORPHA:229 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure |
OMIM:208000 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... |
ORPHA:363705 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... |
ORPHA:980 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Heart mur... |
ORPHA:308552 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Carney Triad |
|
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... |
ORPHA:139411 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Portal hypertension, Cardiomegaly, Cardiomyopathy, Conges... |
ORPHA:465508 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Reduced left ventricular ejection fraction, Abnormal EKG, Right bu... |
ORPHA:268 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... |
ORPHA:137675 |
Sickle Cell Anemia |
|
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Subarachnoid he... |
OMIM:232300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:616897 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:619259 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Cardiomyopathy, Cardiomegaly, Hypovolemic shock |
ORPHA:158687 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Cardiomegaly, Ventricular septal defect, Dilated... |
OMIM:614921 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Truncus Arteriosus |
|
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... |
ORPHA:3384 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Sandhoff Disease |
|
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormal left ventricular function, Bicuspid aortic valve, Hypovolemia, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Arrhythmia, Enlarged kidney, Dilated cardiomyopathy, Antenatal intracerebral hemorr... |
OMIM:608836 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... |
OMIM:602782 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa |
ORPHA:79280 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphoma, Gastrointestinal stroma tumor |
ORPHA:1572 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
17Q11 Microdeletion Syndrome |
|
Glomus jugular tumor, Optic nerve glioma, Plexiform neurofibroma, Glioma, Breast carcinoma, Gastr... |
ORPHA:97685 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Mitral regurgitation, Heart murmur, Enlarged kidney, Aortic regurgita... |
OMIM:252500 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Vasculiti... |
ORPHA:365 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Splenomegaly, Abnormal ao... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Dermatomyositis |
|
Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma |
ORPHA:221 |
Ogden Syndrome |
|
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Secundum atrial ... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly, Bradycardia |
ORPHA:97297 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure |
ORPHA:14 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Raynaud phenomenon |
ORPHA:51 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... |
ORPHA:904 |
Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Atrial septal defect, Hepatomegaly, Splenomegaly, Systolic he... |
OMIM:619991 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomegaly, Congestive heart failure |
OMIM:256040 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
|
Weak pulse, Retinal hemorrhage, Pericardial effusion, Left ventricular systolic dysfunction, Vent... |
ORPHA:51608 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |