Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... |
ORPHA:1209 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1296 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment |
ORPHA:90050 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Hypoxemia, Right-to-left ... |
ORPHA:439 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Congenital Heart Defects, Multiple Types, 4 |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow ... |
OMIM:615779 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... |
ORPHA:860 |
Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, Right atrial enlargement,... |
OMIM:619371 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal bleeding, Splenomegaly |
ORPHA:231393 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Thrombocytopenia, Abnormal bleeding, Epistaxis, Splenomegaly |
ORPHA:721 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... |
OMIM:619897 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1937 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Epidural hemorrhage, Bruising susceptibility, Enlarged kidney, Abnormal splee... |
ORPHA:464329 |
Atrial Septal Defect 2 |
|
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... |
OMIM:607941 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Microphthalmia, Ventricular septal defect |
OMIM:615297 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Criss-Cross Heart |
|
Pulmonic stenosis, Ventricular septal defect, Supravalvular aortic stenosis, Abnormal mitral valv... |
ORPHA:1461 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Death in infancy, Ventricular septal defect |
OMIM:614876 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... |
OMIM:614980 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement |
OMIM:612422 |
Cardiac Valvular Dysplasia 2 |
|
Left ventricular diastolic dysfunction, Systolic heart murmur, Pulmonic stenosis, Dysplastic aort... |
OMIM:620067 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... |
ORPHA:216694 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Verheij Syndrome |
|
Ventricular septal defect, Short neck, Intrauterine growth retardation, Short stature, Branchial ... |
OMIM:615583 |
Congenital Heart Defects, Multiple Types, 5 |
|
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Splenomegaly, Neutropenia |
OMIM:602079 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Death in childhood, Ventricular septal defect |
OMIM:253300 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Biventricular hypertrophy... |
OMIM:619424 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Posterior retinal... |
OMIM:193235 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death in infan... |
ORPHA:1354 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Complete atrioventricular canal defect, Cyanosis, Abnormal EKG, Th... |
ORPHA:1329 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... |
OMIM:618719 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Bruising susceptibility, Hemolytic anemia, Reduced platelet alpha granules, Incr... |
OMIM:314050 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Chylopericardium, Tricuspid regurgitation, Co... |
ORPHA:2414 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Fixed Subaortic Stenosis |
|
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... |
ORPHA:3092 |
Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hyp... |
ORPHA:555874 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Restrictive cardiomyopathy, Splenomegaly |
OMIM:607685 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... |
OMIM:614096 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormal mitral valve morphology, Short stature, Branchial anomaly, Webbed neck |
ORPHA:1131 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:79301 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Leukocytosis, Hepatomegaly, Acute pancreatitis, Bundle branch blo... |
ORPHA:99827 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Syncope, Palpita... |
ORPHA:99104 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Cyanosis, Atrial fibrillation, Pulmonary arterial hypertension, Third he... |
ORPHA:99106 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Ventricular septal defect, Intrauterine growth retardation, Patent ductus... |
OMIM:616276 |
Polycythemia Vera |
|
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Gastrointestinal ... |
OMIM:263300 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Abnormal bleeding, Thrombocytopenia, ... |
ORPHA:231401 |
Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Anophthalmia, Microphthalmia, Ventricular septal defect |
OMIM:615524 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... |
OMIM:618782 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Idiopathic Aplastic Anemia |
|
Gingival bleeding, Anemia, Bone marrow hypocellularity, Neutropenia, Reticulocytopenia, Ecchymosi... |
ORPHA:88 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia |
ORPHA:83461 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Remnants of the hyaloid vascular system, Glial remnants anterior t... |
ORPHA:91495 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Hematochezia, Cervical lymphadenopathy, Subconjunctival hemorrhage, Thrombocytopenia,... |
OMIM:617718 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... |
ORPHA:444013 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Ventricular septal defect |
OMIM:613759 |
Adams-Oliver Syndrome 5 |
|
Pulmonic stenosis, Umbilical hernia, Right atrial enlargement, Right ventricular hypertrophy, Pat... |
OMIM:616028 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Grange Syndrome |
|
Patent ductus arteriosus, Hypertension, Aortic regurgitation, Ventricular septal defect |
ORPHA:79094 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement |
OMIM:617047 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Tractional retinal detachment |
OMIM:601813 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Abnormality o... |
ORPHA:464321 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg... |
OMIM:619313 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage, Macular degeneration, Geographic atrophy |
OMIM:603075 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Ventricu... |
OMIM:212093 |
Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplasia of right ventricle, Atrial septal defect, Total ... |
OMIM:616749 |
Hemochromatosis, Type 2B |
|
Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Congestive heart failure, Sple... |
OMIM:613313 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Ecchymosis, Portal hypertension, Thrombocytopenia, Nodula... |
OMIM:619463 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double... |
ORPHA:3426 |
Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... |
OMIM:108900 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Deat... |
OMIM:617478 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Peripheral retinal neovascularization, Ischemic stroke, Optic ... |
ORPHA:40923 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites |
OMIM:271500 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial... |
ORPHA:75249 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defect, Myofiber d... |
OMIM:115197 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:614480 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... |
ORPHA:453499 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased red blood cell mass, Hypertension, Splenomegaly, Increased hematoc... |
OMIM:133100 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Fish-Eye Disease |
|
Lymphadenopathy, Angina pectoris, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Bacterial endocarditis, Palpitations, Isch... |
ORPHA:2038 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Ventricular septal defect, Death in infancy, Hypertrophic cardiomyopathy |
OMIM:616277 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal he... |
ORPHA:335 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Leukopenia, Hypotension, Fulminant hepatitis, Lymphopenia, Ecchymosis,... |
ORPHA:319213 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus |
ORPHA:231736 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Increased myocardial glycogen content, ... |
OMIM:261740 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Atrial septal... |
ORPHA:99050 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Hypoxemia, Arrhythmia, Cyanosis, Tachycardia |
ORPHA:464453 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Neonatal death, Ventricular septal defect |
OMIM:613730 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Asbestos Intoxication |
|
Hypoxemia, Hepatojugular reflux, Cor pulmonale, Right ventricular failure, Myocardial fibrosis, C... |
ORPHA:2302 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... |
ORPHA:980 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Congestive heart failure, Dilated cardiomyop... |
OMIM:602390 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Rhegmatogenous retinal detachment, Tractional retinal detachment,... |
ORPHA:891 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Hypotension, Hypoxemia, Bradycardia, Cyanosis, Tachycardia |
ORPHA:70587 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Double outlet rig... |
ORPHA:3304 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Petechiae, Abnormal bleeding, Mediastinal... |
ORPHA:158029 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Mitral regurgitation, Ventricular septal defect |
ORPHA:83473 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Hypotension, Anemia, Palpitations, Intracranial hemorrhage, Hypertension, Capillary... |
ORPHA:340 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Anemia, Hepatomegaly, Optic disc pallor, Thrombocytopenia, Petechiae, Optic atro... |
OMIM:611490 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Hyphema |
OMIM:221900 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Vitreous hemorrhage, Retinal neovascularization, Pigmentary retinopathy |
OMIM:193220 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Amyloidosis, Familial Visceral |
|
Cholestasis, Hypertension, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Immunodeficiency 76 |
|
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615996 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Branchiogenic Deafness Syndrome |
|
Branchial fistula, Branchial cyst, Short stature |
ORPHA:50815 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Abnormal bleeding, Bradycardia, Prolonged prothrombin time... |
ORPHA:99826 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... |
ORPHA:49827 |
Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot,... |
OMIM:613854 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Leptospirosis |
|
Jaundice, Hypotension, Arrhythmia, Papilledema, Hepatomegaly, First degree atrioventricular block... |
ORPHA:509 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
OMIM:620010 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Prolonged prothrombin time, Abnormality of the hepatic vasculature, Jau... |
ORPHA:64743 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Macular atrophy, Mitral regurgitation, Anemia, Hypertension, Hep... |
OMIM:230800 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Abnormal bleeding, Thrombocytopenia, Menorrhagia, Epistaxis, Prolonged b... |
OMIM:139090 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... |
OMIM:108800 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614262 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Hypoxemia, Intrauterine growth retardation, Cyanosis |
ORPHA:2257 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Bruising susceptibility, Hemolytic... |
OMIM:153670 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites |
ORPHA:100025 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... |
ORPHA:97214 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... |
OMIM:109730 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia, Atrial septal defect |
OMIM:300887 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Mitral valve prolapse, Bicuspid aortic valve, Patent ductus arteriosus, Right atrial enlargement |
ORPHA:555877 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Microphthalmia, Pericardial effusion, Anophthalmia |
OMIM:613885 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Uveal Melanoma |
|
Vitreous hemorrhage, Retinal detachment |
ORPHA:39044 |
Holoprosencephaly |
|
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Cyclopia, Iris coloboma, V... |
ORPHA:2162 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation |
OMIM:615616 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder, Hyphema |
ORPHA:158000 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Congestive heart failure, Pericarditis, Splenomegaly |
ORPHA:163596 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Mitral regurgitation, Aortic regurgitation, Pulmonary insufficiency, Double outlet right ventricl... |
ORPHA:2326 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenomegaly |
OMIM:615085 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bruising susceptibility, Bone marrow hypocellularity, ... |
ORPHA:3226 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly |
OMIM:619658 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Ecchymosis,... |
ORPHA:824 |
Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Leukemia, Retinal calcification, Abnormality of retinal... |
ORPHA:790 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Tricuspid regurgitation, Portal hypertension, Cutis marmorata, Truncus... |
OMIM:616589 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:613101 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Palpitations, Bone marrow... |
ORPHA:86839 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Vasculitis, Increased proportion of HLA DR+... |
OMIM:601859 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... |
OMIM:601005 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Transposition of the great arteries, Tetralogy of Fallot, Ventricular septa... |
ORPHA:261243 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Heart murmur, Abnormal heart morphology |
ORPHA:1867 |
Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect |
OMIM:614435 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Microphthalmia, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Laubry-Pezzi Syndrome |
|
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... |
ORPHA:99094 |
Schnitzler Syndrome |
|
Vasculitis, Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:214900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular s... |
ORPHA:137675 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Left atrial enlargement, Left ventricular hypertrophy |
ORPHA:57777 |
Nephronophthisis 19 |
|
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... |
OMIM:616217 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Polycythemia Vera |
|
Gingival bleeding, Bruising susceptibility, Hypertension, Pulmonary embolism, Intermittent claudi... |
ORPHA:729 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Pulmonary arterial hypertension, Death in infancy, Neonatal death |
OMIM:265120 |
Truncus Arteriosus |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... |
ORPHA:3384 |
Oligomeganephronia |
|
Optic disc coloboma, Secundum atrial septal defect, Branchial cyst |
ORPHA:2260 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Unilateral microphthalmos, Optic disc hypoplasia, Optic nerve hyp... |
ORPHA:137902 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia, Orbital encephalocele |
OMIM:164180 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Atrioventricular canal d... |
OMIM:306955 |
Waldenström Macroglobulinemia |
|
Vasculitis, Gingival bleeding, Normocytic anemia, Abnormality of neutrophils, Leukemia, Hepatomeg... |
ORPHA:33226 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenomegaly... |
ORPHA:79312 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Vasculitis, Increased proportion of HLA DR+... |
OMIM:603909 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect |
OMIM:231060 |
Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Myelofibrosis |
|
Purpura, Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Central Retinal Vein Occlusion |
|
Papilledema, Macular degeneration, Pigmentary retinopathy, Intraretinal hemorrhage, Retinal neova... |
ORPHA:411527 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Li-Campeau Syndrome |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619189 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Supraventricular arrhythmia, Lacunar stroke, Retinal hemorrhage |
OMIM:611773 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Microphthalmia |
ORPHA:858 |
Diamond-Blackfan Anemia 6 |
|
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventr... |
OMIM:612561 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Microphthalmia |
OMIM:613155 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, En... |
ORPHA:183 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Pulmonary embolism, Hepatomegaly, Prolonged neonatal... |
OMIM:185000 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... |
ORPHA:352665 |
Pulmonary Capillary Hemangiomatosis |
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Diffuse alveolar hemorrhage, Hypoxemia, Elevated pulmonary artery pressure, Pericardial effusion,... |
ORPHA:199241 |
Griscelli Syndrome Type 2 |
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Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,... |
ORPHA:79477 |
Obesity-Hypoventilation Syndrome |
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Cyanosis |
OMIM:257500 |
Cardiac Diverticulum |
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Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... |
ORPHA:1686 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Ventricular tachycardia, Hypotension, Arrhythmia, Cardiomyopathy, Cyanosis |
ORPHA:159 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Atrial septal defect, Ventricular septal defect, Hypertension, Patent ductus arteriosus, Tachycardia |
OMIM:613870 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopathy |
OMIM:249270 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... |
OMIM:235700 |
Pseudoxanthoma Elasticum |
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Macular degeneration, Hypertension, Intermittent claudication, Weak pulse, Angina pectoris, Restr... |
OMIM:264800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Sinus bradycardia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
Neonatal Lupus Erythematosus |
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Abnormal electrophysiology of sinoatrial node origin, Hemolytic anemia, Aplastic anemia, Heart bl... |
ORPHA:398124 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Distal 22Q11.2 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... |
ORPHA:261330 |
Right Atrial Isomerism |
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Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... |
OMIM:208530 |
Hereditary Methemoglobinemia |
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Cyanosis |
ORPHA:621 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Noonan Syndrome 8 |
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Mitral regurgitation, Palmoplantar cutis laxa, Pulmonic stenosis, Ventricular septal defect, Atri... |
OMIM:615355 |
Laryngeal Abductor Paralysis |
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Cyanosis |
OMIM:150260 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Ventricular septal defect |
OMIM:616816 |
Beta-Thalassemia |
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Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Hypert... |
ORPHA:848 |
Hurler-Scheie Syndrome |
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Cardiomyopathy, Abnormality of the tonsils, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Ritscher-Schinzel Syndrome 1 |
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Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Tetra... |
OMIM:220210 |
Familial Drusen |
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Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Granular macular appearan... |
ORPHA:75376 |
Autosomal Dominant Coarctation Of Aorta |
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Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:1455 |
Congenital Rubella Syndrome |
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Jaundice, Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Paten... |
ORPHA:290 |
Leishmaniasis |
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Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... |
ORPHA:507 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
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Acrocyanosis |
ORPHA:2400 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Intrauterine growth retardation, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... |
OMIM:211600 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Right atrial enlargement, Atrial septal defect |
OMIM:615219 |
17Q12 Microduplication Syndrome |
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Microphthalmia, Atrial septal defect |
ORPHA:261272 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Microphthalmia, Ventricular septal defect |
OMIM:602501 |
Cholesteryl Ester Storage Disease |
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Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis |
ORPHA:75234 |
Fetal Trimethadione Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intrauterine growth retarda... |
ORPHA:1913 |
Microphthalmia, Syndromic 11 |
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Microphthalmia |
OMIM:614402 |
Spherocytosis, Type 4 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Atelis Syndrome 2 |
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Pulmonic stenosis, Anemia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Thrombocytopenia,... |
OMIM:620185 |
Acute Interstitial Pneumonia |
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Hypoxemia, Cyanosis, Hypertension, Pericardial effusion |
ORPHA:79126 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Overhydrated Hereditary Stomatocytosis |
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Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
Branchiootorenal Syndrome 1 |
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Branchial fistula, Branchial cyst |
OMIM:113650 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90037 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... |
OMIM:619375 |
Hadziselimovic Syndrome |
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Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Glycogen Storage Disease Ixb |
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Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Typhoid |
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Cardiac arrest, Arrhythmia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Splenomegaly |
ORPHA:99745 |
Waardenburg Syndrome Type 3 |
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Acrocyanosis, Atrial septal defect |
ORPHA:896 |
Cardiofaciocutaneous Syndrome 3 |
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Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy |
OMIM:615279 |
Spherocytosis, Type 1 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Microphthalmia, Dilated cardiomyopathy |
OMIM:618805 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Cyanotic episode, Intrauterine growth retardation |
ORPHA:284417 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Raynaud phenomenon, Telangiectasia, Gastrointestinal hemorrhage, Micronodular cirrhosis, Vasculit... |
OMIM:192315 |
Chronic Myeloid Leukemia |
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Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Acquired Purpura Fulminans |
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Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage, Acrocyanosis |
ORPHA:49566 |
Cat-Eye Syndrome |
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Microphthalmia |
ORPHA:195 |
Spherocytosis, Type 2 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Indolent Systemic Mastocytosis |
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Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... |
ORPHA:98848 |
Cryoglobulinemic Vasculitis |
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Vasculitis, Abnormality of the liver, Viral hepatitis, Hepatomegaly, Purpura, Gastrointestinal he... |
ORPHA:91138 |
Fetal Gaucher Disease |
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Intracranial hemorrhage, Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen,... |
ORPHA:85212 |
Meckel Syndrome, Type 4 |
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Encephalocele, Atrial septal defect, Meningocele, Ventricular septal defect, Microphthalmia, Anen... |
OMIM:611134 |
Holt-Oram Syndrome |
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Paroxysmal atrial fibrillation, Hypoplastic left heart, Ventricular septal defect, Atrial septal ... |
ORPHA:392 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Essential Thrombocythemia |
|
Transient ischemic attack, Acute leukemia, Myocardial infarction, Abnormal platelet morphology, P... |
ORPHA:3318 |
Ulnar Agenesis And Endocardial Fibroelastosis |
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Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Prolonged prothrombin time, Ductal bile plugs, Hematochezia, Jaundice, Intrahepatic cholestasis, ... |
OMIM:613812 |
Sclerosing Cholangitis, Neonatal |
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Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Microphthalmia, Ventricular septal defect |
ORPHA:93267 |
Lymphoproliferative Syndrome 2 |
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Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... |
OMIM:615122 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Meacham Syndrome |
|
Death in childhood, Dextrocardia, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fall... |
OMIM:608978 |
Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Hydrocephalus, Tricuspid valve prolapse, Low posterior hairline, Branc... |
ORPHA:261337 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Arrhythmia, Congestive heart failure, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Death in childhood, Ventricular septal defect, Intrauterine growth retardation, Patent ductus art... |
OMIM:612938 |
Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
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Ventricular septal defect |
OMIM:618506 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Vasculitis, Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocytopeni... |
OMIM:308240 |
Restrictive Dermopathy 2 |
|
Cyanosis, Intrauterine growth retardation |
OMIM:619793 |
Budd-Chiari Syndrome |
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Peritonitis, Jaundice, Hepatomegaly, Cirrhosis, Portal hypertension, Gastrointestinal hemorrhage,... |
ORPHA:131 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... |
OMIM:613751 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn... |
OMIM:150550 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Death in infancy, Acrocyanosis |
OMIM:602473 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:618495 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia, Tetralogy of Fallot |
OMIM:136760 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... |
OMIM:615234 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Acrocyanosis |
OMIM:614407 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
ORPHA:255241 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... |
OMIM:613470 |
Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia |
OMIM:617255 |
Recombinant Chromosome 8 Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Double o... |
OMIM:179613 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:2117 |
Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Telangiectasia, Co... |
OMIM:235200 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:99125 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmi |