Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Neuroendocrine Neoplasm Of Appendix |
|
Functional intestinal obstruction, Mechanical ileus, Midgut malrotation, Ovarian neoplasm, Intest... |
ORPHA:100079 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly |
OMIM:269920 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... |
OMIM:212140 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Neoplasm of the... |
ORPHA:171 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:256550 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... |
ORPHA:124 |
Pudendal Neuralgia |
|
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... |
OMIM:201475 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... |
ORPHA:139411 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Cardiomy... |
ORPHA:465508 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly |
ORPHA:158687 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly |
OMIM:603903 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Enlarged kidney, Antenatal intrac... |
OMIM:608836 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat... |
OMIM:602782 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Heart m... |
OMIM:252500 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Ogden Syndrome |
|
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... |
OMIM:300855 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly |
ORPHA:97297 |
Abetalipoproteinemia |
|
Hepatomegaly, Congestive heart failure, Cardiomegaly |
ORPHA:14 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Aicardi-Goutières Syndrome |
|
Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... |
ORPHA:3472 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Arrhythmia |
OMIM:256040 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... |
ORPHA:51608 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |