Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... |
OMIM:614096 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Intrauterine growth retardation, Hydrocephalus, Cardiomegaly |
ORPHA:858 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Metaphyseal irregularity |
OMIM:269920 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Left ventricular hypertrophy, Left a... |
OMIM:300280 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Bardet-Biedl Syndrome 20 |
|
Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Hypercholesterolemia |
OMIM:619471 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly |
OMIM:613576 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia |
OMIM:619170 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Reduced muscle carnitine level, Endocardial... |
OMIM:212140 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Intrauterine growth re... |
OMIM:253250 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Tetralog... |
OMIM:601005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Fractured radius, Cardiomegaly, Decreased fibular diamete... |
OMIM:616897 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatocellular necrosis, Hypertrophi... |
OMIM:201475 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... |
ORPHA:2041 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... |
ORPHA:85451 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anomalous pulmonary v... |
ORPHA:555874 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine ... |
OMIM:617713 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... |
ORPHA:324410 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal t... |
ORPHA:228308 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Cardiomegaly, ... |
OMIM:618143 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Atrial septal defect, Paten... |
OMIM:245600 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Incr... |
OMIM:617022 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomy... |
OMIM:608836 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Rocker bottom fo... |
OMIM:602782 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide distal femoral metaphysis, Metaphyseal cupping, Micromelia, Cardiomegaly |
OMIM:613320 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Coxa valga, Myelopathy, Splenomegaly, Metaphyseal wi... |
OMIM:252500 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Um... |
ORPHA:96191 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Cardiomegaly |
ORPHA:229 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... |
ORPHA:158687 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... |
ORPHA:1457 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Abnormal metacarpophalangeal joint morphology, Cardiomegaly,... |
ORPHA:465508 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Intrauterine growth... |
OMIM:608013 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Hydrocephalus, Flexion ... |
ORPHA:581 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia |
OMIM:118450 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu... |
ORPHA:2463 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:619259 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertroph... |
ORPHA:79330 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Hypokalemia, Hyperaldosteronism, Hypophosph... |
ORPHA:534 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Talipes equinovarus, Short tibia, Limb hypertonia |
OMIM:620306 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... |
OMIM:232300 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy |
OMIM:614921 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... |
ORPHA:308552 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu... |
ORPHA:3384 |
Absence Of The Pulmonary Artery |
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Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphol... |
ORPHA:980 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly |
OMIM:618886 |
Ogden Syndrome |
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Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Lipodystrophy, Familial Partial, Type 7 |
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Pigmentary retinopathy, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Bohring-Opitz Syndrome |
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Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Lowe... |
ORPHA:97297 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... |
ORPHA:365 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Arachnodactyly, Patent ductus arteriosus, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, L... |
ORPHA:116 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis |
OMIM:618278 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Hydrocephalus, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Myopathy, Talipes equinovarus, Distal lower limb muscle weakness |
ORPHA:14 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Pat... |
OMIM:619991 |
Williams Syndrome |
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Bicuspid aortic valve, Cardiomegaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina ... |
ORPHA:904 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Sple... |
OMIM:256040 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... |
OMIM:130650 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Abnormal c... |
ORPHA:51608 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy |
OMIM:619690 |