Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia |
ORPHA:436182 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Hyperalaninemia |
OMIM:617228 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... |
OMIM:615779 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
OMIM:615238 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... |
OMIM:253300 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis |
ORPHA:1909 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... |
OMIM:603075 |
Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy |
OMIM:600059 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Apolipoprotein C-Ii Deficiency |
|
Lipemia retinalis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprote... |
OMIM:207750 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... |
OMIM:616501 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect |
OMIM:613751 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... |
OMIM:616468 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:249670 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... |
ORPHA:1209 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... |
ORPHA:1354 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration, Abnormality of iron homeost... |
ORPHA:79230 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... |
OMIM:607598 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:610717 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:614947 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Elevated transferrin saturation, Cardiomyopathy, Increased circulating ferr... |
OMIM:613313 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Increased serum zinc |
OMIM:601979 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... |
OMIM:619167 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... |
OMIM:614262 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy |
OMIM:606721 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... |
ORPHA:99095 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Congestive hea... |
OMIM:605676 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Increased serum iron, Cardiomyopathy, Increased circulating ferritin conc... |
OMIM:602390 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Oligohydramnios, Arrhythmia |
OMIM:617021 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Polyhydramnios |
ORPHA:3469 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased serum zinc, Decreased serum iron, Abno... |
ORPHA:89842 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
Transaldolase Deficiency |
|
Abnormal circulating glutamine concentration, Telangiectasia, Biventricular hypertrophy, Edema, A... |
ORPHA:101028 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios |
ORPHA:3405 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger |
ORPHA:1388 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Elevated transferrin saturation, Cardiomyopathy, Increased circulating ferr... |
OMIM:604250 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Hypercholesterolemia, Increased circulating ... |
OMIM:238600 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:251076 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... |
OMIM:601005 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... |
OMIM:108800 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... |
OMIM:617300 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... |
OMIM:618901 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydramnios |
OMIM:263630 |
Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Decreased circul... |
OMIM:615474 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Pedal edema |
OMIM:126320 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Nonimmune hydrops fetalis, Increased circu... |
OMIM:231100 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Arrhythmia, Cardiomyopathy, Increased circulating ferritin conce... |
OMIM:606069 |
Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... |
OMIM:618782 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, Biventricular ... |
ORPHA:860 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus, Neonatal death |
OMIM:228940 |
Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot, Polyhydramnios |
OMIM:618624 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Polyhydramnios, Pul... |
OMIM:615355 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Telangiectasia, Ascites, Cardiomegaly, Cardiomyopathy, Increased circulatin... |
OMIM:235200 |
16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... |
ORPHA:261243 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Atrial septal defect, Oligohydramnios, Atrial flutter, Overriding aort... |
OMIM:601927 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... |
ORPHA:439 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Ascites, Edema, Cardiomyopathy, Polyhydramnios, Arthrogryposis multiplex... |
OMIM:232500 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia |
OMIM:182290 |
Slc39A8-Cdg |
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Abnormal blood zinc concentration, Knee flexion contracture, Hypomanganesemia, Elbow flexion cont... |
ORPHA:468699 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Primary Non-Essential Cutis Verticis Gyrata |
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Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Lcat Deficiency |
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Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:650 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Decreased serum zinc, Oligohydramnios |
ORPHA:541423 |
Ventricular Septal Defect 2 |
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Perimembranous ventricular septal defect |
OMIM:614431 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect |
OMIM:616901 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2476 |
Lipodystrophy, Familial Partial, Type 1 |
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Hypertriglyceridemia |
OMIM:608600 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... |
ORPHA:49827 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia |
OMIM:307030 |
Lysinuric Protein Intolerance |
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Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... |
ORPHA:470 |
Akt2-Related Familial Partial Lipodystrophy |
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Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Criss-Cross Heart |
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Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Supravalvular ao... |
ORPHA:1461 |
Focal Segmental Glomerulosclerosis 1 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Citrullinemia, Type Ii, Adult-Onset |
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Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia |
OMIM:603471 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615279 |
Griscelli Syndrome Type 1 |
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Retinopathy, Hyperlipidemia |
ORPHA:79476 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... |
ORPHA:2299 |
Congenitally Corrected Transposition Of The Great Arteries |
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Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios, Pulmonic stenosis |
ORPHA:139466 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Decreased muscle mass, Abnormality of iron homeostasis, Elevated jugular venous pressure, Cardiom... |
ORPHA:465508 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Ventricular septal defect, Right ventricular hypertrophy, Arthrogryposis multiplex congenita, Atr... |
OMIM:208085 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Prolonged QT interval, Perica... |
ORPHA:26793 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis |
ORPHA:848 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot |
OMIM:612946 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Diastasis recti, Polyhydramnios |
ORPHA:254534 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... |
ORPHA:1686 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate |
OMIM:603358 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Tachycardia, Atrial septal defect, Contractures of the i... |
OMIM:613870 |
Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:1455 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Ventricular hypertrophy, ... |
OMIM:612561 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Atrial septal defect, Patent fo... |
OMIM:618652 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... |
OMIM:220210 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... |
ORPHA:99094 |
Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Aortic valve... |
OMIM:248950 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:619189 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia |
OMIM:617885 |
Lipe-Related Familial Partial Lipodystrophy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435660 |
Lymphedema-Distichiasis Syndrome |
|
Lymphedema, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia, Predominantly lower limb ... |
OMIM:153400 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Truncus arteriosus |
ORPHA:401935 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation |
OMIM:616589 |
Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Mitral valve prolapse, Edema, Mitral stenosis, Tricuspid valve prolapse, Tricu... |
OMIM:212093 |
Atrioventricular Septal Defect 3 |
|
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... |
OMIM:600309 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Tachycardia, Pulmon... |
ORPHA:3426 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:1166 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia, Edema |
OMIM:618348 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Pulmonic... |
OMIM:179613 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dilated cardiomyopathy, Decreased serum zinc, Joint contractures involving the joints of the feet... |
ORPHA:79408 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia, Arthrogr... |
OMIM:613404 |
King-Denborough Syndrome |
|
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Elevated circulatin... |
OMIM:619542 |
Fetal Trimethadione Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... |
ORPHA:1913 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration |
ORPHA:446 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... |
ORPHA:363705 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pulmonic stenosis |
OMIM:615102 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypokalemia, Ventricular hypert... |
ORPHA:369929 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Elevated circulatin... |
OMIM:618775 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Ventricular septal defect, Atrial septal defect, Pulmonary arterial hypertension |
OMIM:608406 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect |
OMIM:207620 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Cardiomegaly, Polyhydramnios, Fl... |
OMIM:616897 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systolic heart murmur, Elevated... |
OMIM:617478 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia |
ORPHA:819 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Hematochezia, Polyhydramnios |
OMIM:243150 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... |
ORPHA:284169 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased... |
ORPHA:766 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia, Pigmentary retinopa... |
OMIM:203800 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... |
ORPHA:1457 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Atrioventricular canal defect, Atrioventricular block, Atrial septal d... |
ORPHA:392 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:614261 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Torticollis, Cardiomegaly, Oligohydramnios, Overriding aorta, Hydrops ... |
OMIM:617022 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:278000 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
Desbuquois Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... |
ORPHA:1425 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Lipemia retinalis, Increased circulating chylomicron concen... |
ORPHA:444490 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Abnormal circulating copper concentration, Facial diplegia, Foot... |
ORPHA:521411 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Scimitar Syndrome |
|
Dextrocardia, Left-to-right shunt, Ventricular septal defect, Truncus arteriosus, Tricuspid atres... |
ORPHA:185 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Roifman Syndrome |
|
Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy |
OMIM:616651 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Ventricular septal defect, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contractur... |
OMIM:603387 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fall... |
OMIM:618316 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Pulmonary arteri... |
ORPHA:210122 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormal heart morphology, Pulmonary arterial hypertension, Decreased serum iron, Flexion contrac... |
ORPHA:391372 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... |
ORPHA:97214 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Ventricular septal defect |
OMIM:617164 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Neonatal death, Aplasia of the le... |
OMIM:608978 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Truncus arteriosus |
ORPHA:2516 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... |
OMIM:616564 |
Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... |
OMIM:616843 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:600987 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hypomimic face |
OMIM:608572 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture |
OMIM:147800 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Brachydactyly, Type B1 |
|
Ventricular septal defect, Joint contracture of the hand, Camptodactyly |
OMIM:113000 |
Prune Belly Syndrome |
|
Ventricular septal defect, Oligohydramnios, Atrial septal defect, Tetralogy of Fallot, Aplasia of... |
ORPHA:2970 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Transketolase Deficiency |
|
Ventricular septal defect, Elevated circulating ribitol concentration, Abnormal heart morphology,... |
ORPHA:488618 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Transaldolase Deficiency |
|
Telangiectasia, Ventricular septal defect, Oligohydramnios, Atrial septal defect, Patent foramen ... |
OMIM:606003 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:617360 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Poly... |
ORPHA:3071 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Congenital muscular torticollis |
ORPHA:2345 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Polyhydramnios, Pulmonic stenosis, Di... |
OMIM:608149 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:618142 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal heart morphology, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale |
ORPHA:500159 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Double outlet right ... |
ORPHA:477817 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Noonan Syndrome 2 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Mitral ste... |
OMIM:605275 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Glycogen Storage Disease Iii |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia |
OMIM:232400 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:290 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... |
OMIM:618619 |
African Iron Overload |
|
Elevated hepatic iron concentration, Abnormal heart morphology, Elevated transferrin saturation, ... |
ORPHA:139507 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
3C Syndrome |
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Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... |
ORPHA:7 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Ventricular septal defect, Tricuspid regurgitation, Increased nuchal translucency, Atrial septal ... |
OMIM:618870 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Ventricular septal defect |
OMIM:601357 |
Obesity Due To Congenital Leptin Deficiency |
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Hypertriglyceridemia |
ORPHA:66628 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
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Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot |
OMIM:600123 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Teebi Hypertelorism Syndrome 1 |
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Ventricular septal defect, Atrial septal defect |
OMIM:145420 |
Noonan Syndrome 4 |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial... |
OMIM:610733 |
Contractural Arachnodactyly, Congenital |
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Bicuspid aortic valve, Ventricular septal defect, Distal arthrogryposis, Mitral valve prolapse, H... |
OMIM:121050 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypoproteinemia, Ventricular septal defect, Ascites, Polyhydramnios, Hypocalcemia, Lymphedema |
OMIM:235255 |
Catel-Manzke Syndrome |
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Dextrocardia, Ventricular septal defect, Overriding aorta, Camptodactyly |
OMIM:616145 |
Emanuel Syndrome |
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Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pulmonic stenosis... |
OMIM:609029 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Ritscher-Schinzel Syndrome 2 |
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Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:300963 |
Myopathy With Extrapyramidal Signs |
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Ventricular septal defect, Elevated circulating creatine kinase concentration, Hypervalinemia, Ex... |
OMIM:615673 |
Congenital Disorder Of Glycosylation, Type Iil |
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Elevated circulating creatine kinase concentration, Ventricular septal defect, Atrial septal defe... |
OMIM:614576 |
Trichohepatoenteric Syndrome 1 |
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Increased serum iron, Ventricular septal defect, Abnormality of iron homeostasis, Aortic regurgit... |
OMIM:222470 |
Keutel Syndrome |
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Ventricular septal defect, Pulmonary arterial hypertension |
ORPHA:85202 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Ventricular septal defect, Atrial septal defect, Mitral regurgitation, Camptodactyly |
OMIM:301039 |
Donnai-Barrow Syndrome |
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Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Macroglossia |
OMIM:612938 |
Heterotaxy, Visceral, 1, X-Linked |
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Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
Seckel Syndrome 10 |
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Retinal detachment, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:617253 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Ventricular septal defect, Patent foramen ovale |
OMIM:610338 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Ventricular septal defect, Macroglossia, Abnormal heart morphology, Camptodactyly, Patent foramen... |
ORPHA:369891 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:370 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
22Q11.2 Duplication Syndrome |
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Transposition of the great arteries, Ventricular septal defect, Hypoplastic left heart, Tetralogy... |
ORPHA:1727 |
Cooper-Jabs Syndrome |
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Congenital diaphragmatic hernia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1488 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
Inverted Duplicated Chromosome 15 Syndrome |
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Ventricular septal defect, Tetralogy of Fallot |
ORPHA:3306 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
ORPHA:329224 |
Visceral Steatosis, Congenital |
|
Neonatal death, Myocardial steatosis, Hypocalcemia |
OMIM:228100 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Ventricular septal defect, Flexion contracture |
ORPHA:79243 |
Trisomy 13 |
|
Ventricular septal defect, Atrial septal defect, Hydrops fetalis |
ORPHA:3378 |
Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... |
ORPHA:3097 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia |
OMIM:169400 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Secundum atrial septal defect, Sm... |
OMIM:612562 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect |
OMIM:218350 |
Seckel Syndrome 9 |
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Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Polyhydramnios |
OMIM:616777 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Mitral regurgitation, Hyperlipidemia, Aortic regurgitation, Arthrogryp... |
ORPHA:254346 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
Diabetic Embryopathy |
|
Transposition of the great arteries, Ventricular septal defect, Aplasia/Hypoplasia of the abdomin... |
ORPHA:1926 |
Heart Block, Congenital |
|
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... |
OMIM:234700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:613327 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:75389 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Elevated circulating creatine kinase concentra... |
OMIM:614921 |
Candidiasis, Familial, 2 |
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Decreased serum iron |
OMIM:212050 |
Emanuel Syndrome |
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Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pulmonic stenosis... |
ORPHA:96170 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Macroglossia, Ab... |
ORPHA:354 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Abnormal circulating copper concentration |
OMIM:121270 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Decreased circulating ferritin concentration, Abnormal blood inorgan... |
ORPHA:309854 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Double outlet righ... |
OMIM:301056 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Camptodactyly, Pulmonic stenosis |
OMIM:619123 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618950 |
Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... |
OMIM:609942 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Ventricular septal defect, Pericardial effusion, Joint contracture of the hand, Pleur... |
OMIM:235510 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Aortic regurgitation, Edema, Congestive heart failure, Heart murmur |
ORPHA:1054 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... |
ORPHA:371428 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Increased serum bile acid concentration, Hyperbilirubinemia, Increased total... |
OMIM:616278 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Polyhydramnios, Camptodactyly of finger |
OMIM:616920 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:613398 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:601186 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Endocardial fibroelastosis, Polyhydramnios, Atrial septa... |
ORPHA:99776 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
Aceruloplasminemia |
|
Torticollis, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Ogden Syndrome |
|
Torticollis, Ventricular septal defect, Arrhythmia, Cardiogenic shock |
ORPHA:276432 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Methanol Poisoning |
|
Abnormality of the optic nerve, Hyperlipidemia |
ORPHA:31825 |