Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... |
ORPHA:247806 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Hereditary Mixed Polyposis Syndrome |
|
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... |
ORPHA:157794 |
Mismatch Repair Cancer Syndrome 1 |
|
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
Lung Cancer |
|
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma |
OMIM:211980 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... |
ORPHA:79501 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... |
ORPHA:220460 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... |
ORPHA:447877 |
Tumor Predisposition Syndrome |
|
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma |
OMIM:614327 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... |
ORPHA:733 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... |
ORPHA:247798 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation |
OMIM:618052 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... |
OMIM:174900 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Pericardial effusion, Ventricular hypertrophy... |
OMIM:115197 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... |
ORPHA:2041 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... |
ORPHA:85451 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... |
ORPHA:615 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... |
ORPHA:439 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... |
ORPHA:860 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Neuroendocrine Neoplasm Of Appendix |
|
Appendiceal mucinous neoplasm, Ovarian neoplasm, Midgut malrotation, Functional intestinal obstru... |
ORPHA:100079 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Gastrointestinal Stromal Tumor |
|
Dysphagia, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor, Neoplasm o... |
ORPHA:44890 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Wolff-Par... |
OMIM:300257 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the lung, Neoplasm of the rectum, Rectal prolapse, Neoplasm of the liver, Intestinal ... |
ORPHA:424016 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Gardner Syndrome |
|
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... |
ORPHA:79665 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... |
ORPHA:1457 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... |
ORPHA:555874 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... |
ORPHA:57777 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Atr... |
ORPHA:1677 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... |
OMIM:601005 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia |
OMIM:600649 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Bradycardia, Congestive heart failure, S... |
OMIM:261740 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor, Neurofibromas |
OMIM:606764 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Congestive h... |
OMIM:212140 |
Paragangliomas 4 |
|
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... |
OMIM:115310 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly |
OMIM:269920 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Atrial septal defect, Patent fo... |
OMIM:618652 |
Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Gastrointestinal... |
ORPHA:97286 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... |
ORPHA:324410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... |
OMIM:619051 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failur... |
OMIM:235200 |
Refsum Disease, Classic |
|
Congestive heart failure, Arrhythmia, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure, Myocardial fibrosis |
OMIM:253250 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Adenoc... |
ORPHA:171 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Arrhythmia |
OMIM:255120 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Blackfan-Diamond Anemia |
|
Malignant genitourinary tract tumor, Myelodysplasia, High palate, Cleft soft palate, Adenocarcino... |
ORPHA:124 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Heart murmur |
ORPHA:99931 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Reduced ejection fraction, Cardiomegaly, Sudden cardia... |
OMIM:201475 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... |
ORPHA:980 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Pul... |
ORPHA:363705 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Arrhythmia |
ORPHA:42 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Cardiomegaly |
OMIM:618886 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Low-output congestive heart failure, Cardiomegaly, Lef... |
ORPHA:308552 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopathy, Splenomegaly, Conge... |
ORPHA:465508 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Carney Triad |
|
Adrenocortical adenoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paraganglioma, Gastrointes... |
ORPHA:139411 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Wolff-Parkinson-White syndrome, Shortened PR interval |
OMIM:232300 |
Sickle Cell Anemia |
|
Hepatomegaly, Hypertension, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced ejection fraction, Right ventricular hypertrophy, Cardiomegaly, Right bundle branch block... |
ORPHA:268 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Cardiomegaly, Cardiomyopathy, Hypovolemic shock |
ORPHA:158687 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventr... |
ORPHA:137675 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Congestive heart failure, Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Aborted sudden cardiac death, Ca... |
OMIM:614921 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Overriding aorta |
OMIM:617022 |
Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Antenatal intracerebral hemorrhage, Cardiomegaly, Arrhythmi... |
OMIM:608836 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... |
ORPHA:99125 |
Sandhoff Disease |
|
Orthostatic hypotension, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Cardiomegaly, Transient ischemic attac... |
ORPHA:91387 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Heart block, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Pulmonary ... |
OMIM:602782 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Cardiomegaly, Telangiectasia of the oral mucosa, Lip telangiectasia |
ORPHA:79280 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Aortic regurgitation, Cardiomegaly, Splenomegaly, Cong... |
OMIM:252500 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect |
ORPHA:79330 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
17Q11 Microdeletion Syndrome |
|
Pheochromocytoma, Myelodysplasia, Gastrointestinal stroma tumor, Rhabdomyosarcoma, Plexiform neur... |
ORPHA:97685 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Pulmonary a... |
ORPHA:95430 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Transient ... |
ORPHA:365 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Reduced ejection fraction, Abnormal mitral valve morphology, Abnormal aortic valve ... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lung adenocarcinoma, Neoplasm, Lymphoma, Breast carcinoma |
ORPHA:221 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia |
ORPHA:97297 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure |
ORPHA:14 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:215140 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon |
ORPHA:51 |
Williams Syndrome |
|
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... |
ORPHA:904 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Arrhythmia |
OMIM:256040 |
Yunis-Varon Syndrome |
|
Hypertension, Ventricular septal defect, Renovascular hypertension, Pulmonary arterial hypertensi... |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Congestive heart failure, ... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Hypertension, Myocardial calcification, Pericardial effusion, Ventricular hypertrophy, Pulmonary ... |
ORPHA:51608 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Enlarged kidney, Viscerome... |
ORPHA:116 |