Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Congenital Tricuspid Valve Dysplasia |
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Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Familial Atrial Myxoma |
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Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea |
ORPHA:615 |
Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... |
OMIM:613320 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal def... |
ORPHA:439 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Respiratory arrest, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:600649 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Respiratory failure, ... |
ORPHA:158687 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Metaphyseal irregularity, Cardiomegaly |
OMIM:269920 |
Timothy Syndrome |
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Ventricular septal defect, Pneumonia, Cardiomegaly, Cutaneous syndactyly, Pulmonary arterial hype... |
OMIM:601005 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Cardiomegaly |
OMIM:300886 |
Coronary Arterial Fistula |
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Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Mulibrey Nanism |
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Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... |
OMIM:253250 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Cardiomegaly, Abnormality of the palmar creases, Atrial septal defect,... |
OMIM:618652 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Short femur, Ventricular septal defect, Fractured radius, Decreased fibular diameter, Cardiomegal... |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly |
OMIM:614702 |
Carnitine Deficiency, Systemic Primary |
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Respiratory distress, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hyp... |
OMIM:212140 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... |
ORPHA:99931 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Camptodactyly of fing... |
OMIM:602782 |
Neuraminidase Deficiency |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy |
OMIM:256550 |
Cantú Syndrome |
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Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... |
ORPHA:95430 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... |
OMIM:245600 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... |
ORPHA:324410 |
Attrv122I Amyloidosis |
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Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short long bone, Talip... |
OMIM:617022 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Mucopolysaccharidosis, Type Iiib |
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Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion |
OMIM:235200 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... |
OMIM:306955 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Cardiomegaly |
OMIM:266500 |
Craniofaciofrontodigital Syndrome |
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Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Long toe, Hepatomegaly, Neonatal respiratory distress, Apnea, Tapered toe, Cardiomegaly, Tapered ... |
OMIM:608836 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory arrest, Hypertrophic cardiomyopathy |
OMIM:201475 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Exertional dyspnea |
ORPHA:42 |
Familial Aortic Dissection |
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Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea |
ORPHA:229 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomeg... |
ORPHA:308552 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Respiratory insufficiency, Cardiomegaly |
OMIM:618886 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Cardiomegaly, Hepatosplenomegaly, Atr... |
ORPHA:79330 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega... |
OMIM:618143 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, Flared iliac ... |
OMIM:252500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... |
ORPHA:2463 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... |
ORPHA:268 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Abnor... |
ORPHA:980 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Elevated pulmonary artery pressure, Left ven... |
ORPHA:57777 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... |
ORPHA:3472 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cardiomegaly, Splenomegaly, Cardiomy... |
ORPHA:465508 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Splenomega... |
OMIM:232300 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Dilated cardiomyopathy, Pulmonary... |
OMIM:614921 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... |
ORPHA:3384 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
Sickle Cell Disease |
|
Hypoxemia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:603903 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional... |
ORPHA:91387 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Pleural effusion, Atrial septal di... |
ORPHA:1677 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Cardiomyopathy, Abnormal myocardium mo... |
ORPHA:228308 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Up... |
ORPHA:581 |
Ogden Syndrome |
|
Congenital hip dislocation, Apnea, Left atrial enlargement, Bicuspid aortic valve, Cardiomegaly, ... |
OMIM:300855 |
Bohring-Opitz Syndrome |
|
Apnea, Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist flexion contracture, Fixed elb... |
ORPHA:97297 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Coxa valga, Cardiomegaly |
OMIM:230000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato... |
OMIM:618278 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to mus... |
ORPHA:365 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom... |
OMIM:256040 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Cough |
ORPHA:137675 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Abetalipoproteinemia |
|
Hepatomegaly, Respiratory failure, Talipes equinovarus, Cardiomegaly |
ORPHA:14 |
Tropical Endomyocardial Fibrosis |
|
Orthopnea, Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly,... |
ORPHA:75565 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Williams Syndrome |
|
Abnormal endocardium morphology, Hallux valgus, Overriding aorta, Bicuspid aortic valve, Ventricu... |
ORPHA:904 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... |
OMIM:619991 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial cal... |
ORPHA:51608 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |