| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Stargardt Disease 1 |
|
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa |
OMIM:248200 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... |
OMIM:312700 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... |
ORPHA:231736 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... |
ORPHA:75376 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Lipemia retinalis, Hypercholesterolemia, Decreas... |
OMIM:207750 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... |
OMIM:600059 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... |
OMIM:618654 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina... |
OMIM:238600 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Retinal degeneration, Decreased LDL... |
OMIM:615558 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal detachment, Retinal dots, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Neonat... |
OMIM:614096 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... |
OMIM:239850 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly, Intrauterine growth retardation, Hydrocephalus |
ORPHA:858 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Abetalipoproteinemia |
|
Retinopathy, Abetalipoproteinemia, Retinal degeneration |
OMIM:200100 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, Metaphyseal irregularity |
OMIM:269920 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... |
OMIM:620135 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Hypercholesterolemia, Retinal vascular tortuosity, Rod-cone dystrophy |
OMIM:619471 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... |
OMIM:618652 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Syndactyly |
OMIM:613576 |
| Neuhauser Syndrome |
|
Retinal detachment, Hypercholesterolemia |
OMIM:249310 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Aq... |
OMIM:306955 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Cardiomegaly, ... |
OMIM:212140 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial... |
OMIM:253250 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn... |
OMIM:601005 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly |
OMIM:619051 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Intrauterine growth r... |
OMIM:616897 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Polymicrogyria, Ventricular septal defect,... |
OMIM:620609 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepatomegaly |
ORPHA:42 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... |
ORPHA:91495 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... |
ORPHA:555874 |
| Refsum Disease, Classic |
|
Cardiomegaly, Short fourth metatarsal, Limb muscle weakness, Cardiomyopathy |
OMIM:266500 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Intrauterine growth retardation, Myopathy, Cardiomegaly, Left ventricular hypertr... |
OMIM:617713 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Abnormal thumb morphology, Mitral valve ... |
ORPHA:324410 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Bicuspi... |
OMIM:245600 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Finger joint hypermobility, Ventricular s... |
ORPHA:363705 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short distal phalanx of finger, Short fourth metatarsal, Umbilical hernia, Clinodactyly of the 5t... |
OMIM:618143 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Overlapping fing... |
OMIM:617022 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v... |
OMIM:614643 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Dilated cardiomyopathy, Polymicrogyria, Elbow flexion contracture, Increased muscle ... |
OMIM:608836 |
| Pierson Syndrome |
|
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... |
OMIM:609049 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Myelopathy, Varus deformity of humeral neck, Umbilical herni... |
OMIM:252500 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Polymicrogyria, Abnormality of neuronal migration, Cardiomegaly, Hepatomegaly, Ab... |
ORPHA:228308 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Hemochromatosis, Type 1 |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Camptodactyly of finger, Elbow flexion contracture, Tibial torsion, Hepatosplenomeg... |
OMIM:602782 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Exercise-induced rhabdomyolysis |
OMIM:201475 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis |
OMIM:613320 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Hepat... |
ORPHA:96191 |
| Familial Aortic Dissection |
|
Cardiomegaly, Patent ductus arteriosus |
ORPHA:229 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Intrauterine growth retardation |
OMIM:618838 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... |
ORPHA:268 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Myopathy, C... |
OMIM:261740 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Intrauterine growth retardation, Camptodactyly of toe, Cardiomegaly, 2-3 finger s... |
ORPHA:158687 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Decreased muscle mass, Splenomegaly, Cardiomegaly, Abnormal metacarpophalangeal j... |
ORPHA:465508 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Mucopolysaccharidosis Type 3 |
|
Umbilical hernia, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Splenomegaly,... |
ORPHA:581 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Neonatal death, Cardiomegaly, ... |
OMIM:608013 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Decreased muscle mass |
ORPHA:349 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Sandhoff Disease |
|
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia |
OMIM:268800 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Alagille Syndrome 1 |
|
Pigmentary retinopathy, Hypercholesterolemia, Chorioretinal atrophy, Hypertriglyceridemia |
OMIM:118450 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Polymicrogyria, Patent foramen ovale, Cardiomegaly, Talipes equinovarus, Limb hy... |
OMIM:620371 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Thin metatarsal cortices, Thin metacarp... |
ORPHA:2463 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Overlapping fingers, Cardiomegaly, Left ventricular hypertrophy, Atrial septa... |
ORPHA:79330 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:619259 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Cardiomegaly, Talipes equinovarus, Limb hypertonia, Short femur |
OMIM:620306 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammone... |
ORPHA:534 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, Cardiomegaly, Hepatomegaly |
OMIM:614921 |
| Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen... |
ORPHA:980 |
| Glycogen Storage Disease Ii |
|
Firm muscles, Limb muscle weakness, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Incre... |
OMIM:232300 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy, Facial hyp... |
ORPHA:308552 |
| Truncus Arteriosus |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... |
ORPHA:3384 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Sandal gap, Broad hallux, Umbilical hernia, Intrauterine growth re... |
OMIM:300855 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Fucosidosis |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Coxa valga, Generali... |
OMIM:230000 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Bohring-Opitz Syndrome |
|
Congenital contracture, Intrauterine growth retardation, Cardiomegaly, Abnormal cardiac septum mo... |
ORPHA:97297 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Aplasia of the distal pha... |
ORPHA:3472 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Lower limb muscle weakness, Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventric... |
ORPHA:365 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Optic neuropathy |
ORPHA:391665 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system |
OMIM:620185 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Patent ductus arteriosus, Arachnodactyly |
ORPHA:91387 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Diastasis recti, Co... |
ORPHA:116 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Hydrocephalus, Ventricular septal defect |
ORPHA:137675 |
| Abetalipoproteinemia |
|
Myopathy, Distal lower limb muscle weakness, Talipes equinovarus, Cardiomegaly, Hepatomegaly |
ORPHA:14 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Full Nf2-Related Schwannomatosis |
|
Epiretinal membrane, Retinal hamartoma, Abnormal optic nerve morphology, Remnants of the hyaloid ... |
ORPHA:637 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Williams Syndrome |
|
Genu valgum, Myopathy, Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic valve, O... |
ORPHA:904 |
| Liver Disease, Severe Congenital |
|
Umbilical hernia, Dilatation of the ventricular cavity, Intrauterine growth retardation, Splenome... |
OMIM:619991 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Finger swelling, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Clu... |
OMIM:256040 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... |
OMIM:130650 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly |
OMIM:618278 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myositis |
ORPHA:51 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:620376 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Norrie Disease |
|
Optic atrophy, Abnormal vitreous humor morphology, Abnormal retinal vascular morphology, Retinal ... |
ORPHA:649 |
| Microphthalmia, Syndromic 2 |
|
Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system |
OMIM:300166 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Expanded metatarsals with widened medullary ca... |
OMIM:182250 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Holoprosencephaly 2 |
|
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Neuroocular Syndrome 1 |
|
Hypoplasia of the fovea, Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:619539 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Abnormal calcification of the carpal bones, Pericardial ef... |
ORPHA:51608 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy |
OMIM:619690 |
