| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Vein Of Galen Aneurysmal Malformation |
|
Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology |
ORPHA:1053 |
| Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous fistula, Arteriovenous malformation |
OMIM:608354 |
| Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
| Arterial Dissection-Lentiginosis Syndrome |
|
Arteriovenous malformation, Arterial dissection |
ORPHA:1682 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:205950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... |
OMIM:616689 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... |
ORPHA:2133 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:206100 |
| Wyburn-Mason Syndrome |
|
Retinal vascular malformation, Vascular dilatation, Arteriovenous malformation, Peripheral arteri... |
ORPHA:53719 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... |
OMIM:612561 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, H... |
OMIM:185000 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... |
ORPHA:411527 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume |
OMIM:617948 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... |
OMIM:305390 |
| Non-Involuting Congenital Hemangioma |
|
Peripheral arteriovenous fistula, Prominent superficial veins |
ORPHA:141179 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... |
OMIM:608850 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Th... |
OMIM:617021 |
| Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean... |
OMIM:616860 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... |
OMIM:613839 |
| Rapidly Involuting Congenital Hemangioma |
|
Peripheral arteriovenous fistula, Prominent superficial veins |
ORPHA:141184 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased ... |
OMIM:615234 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... |
ORPHA:891 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
| Blue Rubber Bleb Nevus |
|
Arteriovenous malformation |
ORPHA:1059 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency |
ORPHA:624 |
| Parkes Weber Syndrome |
|
Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila... |
ORPHA:90307 |
| Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation |
ORPHA:2875 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Venous insufficiency |
ORPHA:137608 |
| Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... |
ORPHA:97339 |
| Majeed Syndrome |
|
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... |
OMIM:609628 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology |
ORPHA:1110 |
| Currarino Syndrome |
|
Arteriovenous malformation |
ORPHA:1552 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Arteriovenous malformation |
ORPHA:702 |
| Eales Disease |
|
Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ... |
ORPHA:40923 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... |
OMIM:620135 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Optic atrophy, Arteriovenous malformation |
ORPHA:60040 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, Arteriovenous fistula, Peripheral arteriovenous fistula, Vein of Gale... |
ORPHA:137667 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of... |
OMIM:612562 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
| Glomuvenous Malformation |
|
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation |
ORPHA:83454 |
| Melorheostosis |
|
Peripheral arteriovenous fistula |
ORPHA:2485 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... |
OMIM:193220 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Ischemic stroke, Spinal arteriovenous malformation, Dilatation of celiac artery, Arteriovenous fi... |
OMIM:610655 |
| Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Arteriovenous malformation, Tetralogy of Fallot |
ORPHA:974 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Thro... |
ORPHA:124 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus |
ORPHA:90308 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Arteriovenous malformation, Retinal detachment, Abnormality of retinal pigmentatio... |
ORPHA:394 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... |
ORPHA:811 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Dilated cardiomyopathy, Ventricular septal defect, Thrombocyto... |
ORPHA:261250 |
| Mucopolysaccharidosis Type 7 |
|
Arteriovenous malformation |
ORPHA:584 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hepatic arteriovenous malformation, Gastrointestinal arteriovenous malformation, Arteriovenous ma... |
ORPHA:774 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal optic nerve morphology, Arteriovenous malformation, Intracranial hemorrhage, Aortic aneu... |
ORPHA:109 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Arteriovenous malformation, Arterial stenosis, Patent ductus arteriosus |
ORPHA:1556 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... |
OMIM:127550 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia |
ORPHA:858 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Thrombocytosis, Macrocytic anemia, Increased mean... |
OMIM:105650 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatos... |
ORPHA:231222 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Chronic hemolytic anemia, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... |
OMIM:618278 |
| Klippel-Trenaunay-Weber Syndrome |
|
Arteriovenous fistula |
OMIM:149000 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hepatomegaly, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... |
ORPHA:231214 |
| Superficial Siderosis |
|
Arteriovenous malformation, Subarachnoid hemorrhage, Abnormal vertebral artery morphology |
ORPHA:247245 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
| Attrv122I Amyloidosis |
|
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... |
ORPHA:85451 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly |
OMIM:269920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Sickle Cell Disease |
|
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... |
OMIM:603903 |
| Fanconi Anemia |
|
Abnormal carotid artery morphology, Arteriovenous malformation, Abnormal aortic morphology, Tetra... |
ORPHA:84 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Hennekam Syndrome |
|
Arteriovenous malformation, Pulmonary lymphangiectasia |
ORPHA:2136 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi... |
OMIM:256550 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Pulmonary Arteriovenous Malformation |
|
Ischemic stroke, Pulmonary arteriovenous fistulas, Transient ischemic attack |
ORPHA:2038 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Hepatomegaly, Iron deficiency anemia, Hypochromic microcytic anemi... |
ORPHA:97214 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... |
OMIM:300280 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spinal arteriovenous malformation, Hepatic arteriovenous malformation, Gastroint... |
OMIM:187300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Juvenile Polyposis Syndrome |
|
Hepatic arteriovenous malformation, Arteriovenous malformation, Transient ischemic attack, Cerebr... |
ORPHA:2929 |
| Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Proteus Syndrome |
|
Retinal hamartoma, Arteriovenous malformation, Venous malformation, Retinal nonattachment, Abnorm... |
ORPHA:744 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Castleman Disease |
|
Thrombocytopenia, Restrictive cardiomyopathy, Anemia, Decreased mean corpuscular volume |
ORPHA:160 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Hemochromatosis, Type 1 |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:235200 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Timothy Syndrome |
|
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601005 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascula... |
ORPHA:247691 |
| Vascular Ehlers-Danlos Syndrome |
|
Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Arteriovenous fistulas of celiac... |
ORPHA:286 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Classical Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Arteriovenous fistula, Dilatation of the cerebral artery, Arterial dissection |
ORPHA:287 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... |
ORPHA:324410 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Ischemic stroke, Spinal arteriovenous malformation, Hepatic arteriovenous malformation, Gastroint... |
OMIM:600376 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly |
OMIM:608013 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... |
ORPHA:57777 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... |
ORPHA:363705 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Mogs-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Thrombocytopenia, Left ventricular hypertrophy, Cardiomegaly, A... |
ORPHA:79330 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Cerebral arteriov... |
OMIM:175050 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:465508 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus |
OMIM:617022 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... |
OMIM:602782 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Enlarged kidney, Hepatomegaly, Dilated cardiomyopathy |
OMIM:608836 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Phace Syndrome |
|
Abnormal carotid artery morphology, Retinal vascular malformation, Aortic root aneurysm, Optic ne... |
ORPHA:42775 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect |
OMIM:614921 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:308552 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Abetalipoproteinemia |
|
Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Acanthocytosis |
ORPHA:14 |
| Fucosidosis |
|
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly |
OMIM:230000 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... |
ORPHA:3384 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Anemia, Increased B cell count, Increased T cell count, Leukocytosis, Hepatosplenom... |
OMIM:620376 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Abnormal myocar... |
ORPHA:581 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... |
ORPHA:95430 |
| Ogden Syndrome |
|
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... |
OMIM:300855 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:252500 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... |
OMIM:300967 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale, Splenic cyst |
OMIM:620371 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Aicardi-Goutières Syndrome |
|
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, He... |
ORPHA:51 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:137675 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Hepatomegaly, Anemia, Lymphocytosis, Patent foramen ovale, Dilatation of... |
OMIM:619991 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:365 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:96191 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... |
ORPHA:75565 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly |
OMIM:130650 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia |
OMIM:256040 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Polycythemia, Splenome... |
ORPHA:116 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Te... |
ORPHA:904 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect |
ORPHA:3472 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification |
ORPHA:51608 |
| Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
|
OMIM:615506 |
